Gene: APC

Alternate names for this Gene: BTPS2|DESMD|DP2|DP2.5|DP3|GS|PPP1R46

Gene Summary: This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Mutations in the APC gene have been found to occur in most colorectal cancers. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product.

Gene is located in Chromosome: 5

Location in Chromosome : 5q22.2

Description of this Gene: APC regulator of WNT signaling pathway

Type of Gene: protein-coding

rs755229494 in APC gene and Adenocarcinoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs121913331 in APC gene and Adenocarcinoma of lung (disorder) PMID 18948947 2008 Somatic mutations affect key pathways in lung adenocarcinoma.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs755229494 in APC gene and Adenoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1064794163 in APC gene and Adenomatous Polyposis Coli PMID 28349240 2017 The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

PMID 20223039 2005 Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

PMID 15459959 2004 Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

PMID 17026565 2006 Singapore familial adenomatous polyposis (FAP) patients with classical adenomatous polyposis but undetectable APC mutations have accelerated cancer progression.

PMID 7906810 1994 Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer.

PMID 14523376 2004 Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.

PMID 14729851 2004 Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis.

PMID 10213492 1999 Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis.

PMID 11247896 2001 Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families.

PMID 23159591 2013 APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.

PMID 10768871 2000 The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis.

PMID 19029688 2008 APC gene mutations causing familial adenomatous polyposis in Polish patients.

PMID 1316610 1992 Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.

PMID 12172928 2002 Preliminary results of the molecular diagnosis of familial adenomatous polyposis in Cuban families.

PMID 10470088 1999 The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.

PMID 1651563 1991 Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 25645574 2015 ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

PMID 21643010 2011 Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.

PMID 24310308 2014 ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).

PMID 27217144 2016 Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis.

PMID 25452455 2015 Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 11598466 2001 Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation.

PMID 7833931 1994 Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients.

PMID 7833149 1994 Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene.

PMID 1338904 1992 Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene.

PMID 1338764 1992 Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients.

PMID 1338691 1992 Somatic mutation of the APC gene in gastric cancer: frequent mutations in very well differentiated adenocarcinoma and signet-ring cell carcinoma.

PMID 21368914 2011 Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP).

PMID 7661930 1995 The molecular basis of Turcot's syndrome.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 8990002 1997 Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.

PMID 15108286 2004 Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP).

PMID 15951963 2005 A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.

PMID 12357334 2002 De novo mutations in familial adenomatous polyposis (FAP).

PMID 1324223 1992 Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis.

PMID 20924072 2011 Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.

PMID 10083733 1999 Germline mutations of the APC gene in Korean familial adenomatous polyposis patients.

PMID 17411426 2007 Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

PMID 16134147 2005 Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

PMID 17785554 2007 Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis.

PMID 16292097 2005 We identified a mutation in the APC gene that results in a truncated protein (Y935X) in the FAP proband, and subsequently in 12 FAP-affected members.

PMID 12173026 2002 Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD).

PMID 19444466 2009 APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

PMID 10713886 2000 APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients.

PMID 15024739 2004 Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.

PMID 8381579 1993 Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.

PMID 15300853 2004 Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.

PMID 19793053 2009 APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.

PMID 16088911 2005 Four of the included FAP patients had papillary thyroid cancers; all were female and had germline APC mutations (c.1863_1865delTTAincCT, c.2805C>A, c.3183_3187delACAAA and c.3927_3931delAAAGA).

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 18433509 2008 Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

PMID 25604157 2015 High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.

PMID 20564245 2010 APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis.

PMID 9101302 1997 Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques.

PMID 12007223 2002 Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.

PMID 21110124 2011 Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype.

PMID 17963004 2007 Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations.

PMID 9664575 1998 Rapid RT-PCR-based protein truncation test in the screening for 5' located mutations of the APC gene.

PMID 20649969 2010 Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.

PMID 9342373 1997 Alternative genetic pathways in colorectal carcinogenesis.

PMID 17604324 2008 Somatic APC mosaicism: an underestimated cause of polyposis coli.

PMID 8187091 1994 Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors.

PMID 8118461 1994 Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families.

PMID 9824584 1998 Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene.

PMID 20434453 2010 Allele-specific expression of APC in adenomatous polyposis families.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 26138249 2015 Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis.

PMID 20685668 2010 Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.

PMID 15857185 2005 APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 10094547 1999 Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation.

PMID 8625067 1995 Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP.

PMID 15300576 2004 Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis.

PMID 18063416 2008 American founder mutation for attenuated familial adenomatous polyposis.

PMID 8252630 1993 Alleles of the APC gene: an attenuated form of familial polyposis.

PMID 21970370 2011 Activating mutation in MET oncogene in familial colorectal cancer.

PMID 10077047 1999 Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli.

PMID 19331226 2009 Initial results of colorectal polyposis research in Latvia.

PMID 15095859 2004 A case of Gardner syndrome with a mutation at codon 1556 of APC: a suggested case of genotype-phenotype correlation in dental abnormality.

PMID 21779980 2011 A survey of APC mutations in Quebec.

PMID 21476993 2012 Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists.

PMID 9298819 1997 Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene-specific isoforms.

PMID 12408524 2002 APC and CTNNB1 mutations in a large series of sporadic colorectal carcinomas stratified by the microsatellite instability status.

PMID 12494469 2003 Analysis of the human APC mutation spectrum in a saccharomyces cerevisiae strain with a mismatch repair defect.

PMID 25159915 2014 Diverse modes of genomic alteration in hepatocellular carcinoma.

PMID 9585611 1998 Genotype-phenotype correlations in attenuated adenomatous polyposis coli.

PMID 11247895 2001 Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity.

PMID 16461775 2006 Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.

rs35130225 in APC gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs459552 in APC gene and Body mass index PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs755229494 in APC gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs755229494 in APC gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs755229494 in APC gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs755229494 in APC gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1801155 in APC gene and Colorectal Carcinoma PMID 23896379 2013 The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.

PMID 9731533 1998 The I1307K allele was found in 6.1% of unselected Ashkenazi Jews and higher proportions of Ashkenazim with family or personal histories of CRC (ref.2).

PMID 9724771 1998 The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.

PMID 11159880 2001 To further address the pathogenic significance of I1307K, we offered both a genetic test and a screening program to individuals considered to be at increased risk for colorectal cancer.

PMID 9288102 1997 Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs121913326 in APC gene and Colorectal Neoplasms PMID 24861525 2015 Genetic analysis in APC, KRAS, and TP53 in patients with stomach and colon cancer.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 22810696 2012 Comprehensive molecular characterization of human colon and rectal cancer.

PMID 1528264 1992 APC mutations occur early during colorectal tumorigenesis.

PMID 8187091 1994 Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors.

PMID 10737795 2000 "APC mutations in sporadic colorectal tumors: A mutational ""hotspot"" and interdependence of the ""two hits""."

PMID 1338904 1992 Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene.

PMID 23204322 2012 A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.

PMID 24518971 2014 A unique profile of adenomatous polyposis coli gene mutations in Iranian patients suffering sporadic colorectal cancer.

PMID 17704924 2008 Genetic alterations of APC, K-ras, p53, MSI, and MAGE in Korean colorectal cancer patients.

PMID 18992635 2008 Prevalence of mutations in APC, CTNNB1, and BRAF in Tunisian patients with sporadic colorectal cancer.

PMID 23700467 2013 Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.

PMID 21901162 2011 Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients.

PMID 2281069 1990 [The effect of occlusion time in the measurement of compliance and resistance of the respiratory system using passive expiration in infants].

PMID 12374230 2002 Mutations of the APC gene in human sporadic colorectal cancers.

PMID 24651453 2014 HD chromoendoscopy coupled with DNA mass spectrometry profiling identifies somatic mutations in microdissected human proximal aberrant crypt foci.

PMID 22848674 2012 Comprehensive mutation analysis in colorectal flat adenomas.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs755229494 in APC gene and Malignant neoplasm of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs755229494 in APC gene and Malignant tumor of colon PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1291513037 in APC gene and Medulloblastoma PMID 10666372 2000 APC mutations in sporadic medulloblastomas.

rs1057519843 in APC gene and Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs1019221239 in APC gene and Neoplastic Syndromes, Hereditary PMID 9101302 1997 Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques.

PMID 20685668 2010 Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.

PMID 15459959 2004 Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

PMID 18433509 2008 Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

PMID 23159591 2013 APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.

PMID 20223039 2005 Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

PMID 18199528 2008 Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.

PMID 21078199 2010 Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis.

PMID 19036155 2008 Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.

PMID 25590978 2015 Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing.

PMID 21859464 2011 Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?

PMID 19196998 2009 Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

PMID 24599579 2014 The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.

PMID 17411426 2007 Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

PMID 8544194 1995 Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.

PMID 10083733 1999 Germline mutations of the APC gene in Korean familial adenomatous polyposis patients.

PMID 8252630 1993 Alleles of the APC gene: an attenuated form of familial polyposis.

PMID 11960572 2001 Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 9375853 1997 APC mutations in familial adenomatous polyposis families in the Northwest of England.

PMID 8990002 1997 Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.

PMID 8187091 1994 Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors.

PMID 8162022 1994 Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.

PMID 8730280 1996 Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene.

PMID 19029688 2008 APC gene mutations causing familial adenomatous polyposis in Polish patients.

PMID 10768871 2000 The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis.

PMID 20649969 2010 Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.

PMID 26446593 2016 Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.

PMID 11247896 2001 Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families.

PMID 16088911 2005 Mutation spectrum of the APC gene in 83 Korean FAP families.

PMID 12007223 2002 Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.

PMID 7833936 1994 Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene.

PMID 1316610 1992 Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.

PMID 19336753 2009 The role of pediatricians in families with a history of familial adenomatous polyposis.

PMID 22987206 2013 Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.

PMID 11933206 2002 APC germline mutations identified in Czech patients with familial adenomatous polyposis.

PMID 17135276 2007 APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.

PMID 19444466 2009 APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

PMID 18166348 2008 Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis.

PMID 23185543 2012 Structure of the human discs large 1 PDZ2- adenomatous polyposis coli cytoskeletal polarity complex: insight into peptide engagement and PDZ clustering.

PMID 21858148 2011 Molecular basis for the recognition of adenomatous polyposis coli by the Discs Large 1 protein.

PMID 11707392 2001 Molecular mechanisms of beta-catenin recognition by adenomatous polyposis coli revealed by the structure of an APC-beta-catenin complex.

PMID 18387968 2008 Functional definition of the mutation cluster region of adenomatous polyposis coli in colorectal tumours.

PMID 15024739 2004 Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.

PMID 20924072 2011 Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.

PMID 21653199 2011 Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the protein truncation test.

PMID 28533537 2017 Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

PMID 9950360 1999 Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition.

PMID 14961559 2003 The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.

PMID 26422110 2015 Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis.

PMID 24664542 2014 Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations.

PMID 23906606 2013 Identification of APC gene mutations in jejunal carcinomas from a patient with familial adenomatous polyposis.

PMID 1338764 1992 Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients.

PMID 23561487 2013 Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

PMID 21110124 2011 Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype.

PMID 8103406 1993 The APC (adenomatous polyposis coli) gene: a novel mutation in an FAP patient and a DdeI polymorphism in the 5' noncoding region.

PMID 26625971 2016 Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.

PMID 25832318 2015 Familial adenomatous polyposis-associated and sporadic pyloric gland adenomas of the upper gastrointestinal tract share common genetic features.

PMID 10646887 2000 APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis.

PMID 12581900 2003 Novel mutations of the APC gene in familial adenomatous polyposis in Greek patients.

PMID 10982189 2000 Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

PMID 16317745 2006 Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?

PMID 15857185 2005 APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations.

PMID 16134147 2005 Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

PMID 1651563 1991 Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients.

PMID 10094547 1999 Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation.

PMID 1324223 1992 Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis.

PMID 19793053 2009 APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.

PMID 12357334 2002 De novo mutations in familial adenomatous polyposis (FAP).

PMID 21779980 2011 A survey of APC mutations in Quebec.

PMID 26613750 2016 Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.

PMID 27574554 2016 Immunohistochemical analysis of the Wnt/β-catenin signaling pathway in pancreatic neuroendocrine neoplasms.

PMID 26300997 2015 Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.

PMID 8381580 1993 Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene.

PMID 10811618 2000 Structural basis of the Axin-adenomatous polyposis coli interaction.

PMID 20434453 2010 Allele-specific expression of APC in adenomatous polyposis families.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 7833149 1994 Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene.

PMID 7853377 1994 APC mutation associated with late onset of familial adenomatous polyposis.

PMID 19768578 2010 Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families.

PMID 20333795 2010 APC gene mutations in Chinese familial adenomatous polyposis patients.

PMID 19828935 2009 Single cell analysis of mutations in the APC gene.

PMID 10077047 1999 Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli.

PMID 11768389 2001 A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour.

PMID 8381579 1993 Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.

PMID 9824584 1998 Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene.

PMID 27081525 2015 Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation.

PMID 22135120 2011 Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis?

PMID 28135145 2017 Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

PMID 9973276 1999 Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism.

PMID 9288102 1997 Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 16228836 2005 Colorectal polyps in carriers of the APC I1307K polymorphism.

PMID 28125075 2017 Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.

PMID 10938175 2000 Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps.

PMID 27146957 2016 Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.

PMID 26314409 2016 Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects.

PMID 23576677 2013 APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 18343606 2009 No evidence of the APC D1822V missense variant's pathogenicity in Tunisian patients with sporadic colorectal cancer.

PMID 23896379 2013 The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.

PMID 26421687 2016 The APC I1307K allele conveys a significant increased risk for cancer.

PMID 11159880 2001 APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews.

PMID 17486639 2007 Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

PMID 15108286 2004 Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP).

PMID 9521420 1998 Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene mutations.

PMID 10598803 1999 The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect.

PMID 24735542 2014 A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing.

PMID 8118461 1994 Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families.

PMID 17963004 2007 Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations.

PMID 8395941 1993 Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.

PMID 26840078 2016 Gardner Fibroma: Clinical and Histopathologic Implications of Germline APC Mutation Association.

PMID 15771908 2005 Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands.

PMID 12010888 2002 Genetic and clinical characterisation of familial adenomatous polyposis: a population based study.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 19531215 2009 Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

PMID 22150579 2012 Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli.

PMID 18063416 2008 American founder mutation for attenuated familial adenomatous polyposis.

PMID 22809634 2013 Inflammatory bowel disease and familial adenomatous polyposis.

PMID 19331226 2009 Initial results of colorectal polyposis research in Latvia.

PMID 24750145 2014 Duodenal adenomatosis in Japanese patients with familial adenomatous polyposis.

PMID 12173026 2002 Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD).

PMID 21142386 2010 Andalusian Registry for familial adenomatous polyposis. Analysis of patients included.

PMID 9585611 1998 Genotype-phenotype correlations in attenuated adenomatous polyposis coli.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

PMID 18629394 2008 Colonic interposition in a woman with attenuated familial adenomatosis polyposis: does the location of the colon affect polyp formation?

PMID 22658618 2012 ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

PMID 12901799 2003 A nonsense mutation in exon 8 of the APC gene (Arg283Ter) causes clinically variable FAP in a Malaysian Chinese family.

PMID 25123297 2015 Tumor genome analysis includes germline genome: are we ready for surprises?

PMID 10440612 1999 Germline and somatic mutations in exon 15 of the APC gene and K-ras mutations in duodenal adenomas in patients with familial adenomatous polyposis.

PMID 14729851 2004 Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis.

PMID 12702169 2003 Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography.

PMID 23715166 2013 Multifocal hepatic neoplasia in 3 children with APC gene mutation.

PMID 23575299 2014 Fatal extraintestinal adrenal malignancy in a 12-year-old girl with familial adenomatous polyposis.

PMID 28185118 2017 Gastric cancer in FAP: a concerning rise in incidence.

PMID 17489848 2007 Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.

PMID 20682701 2010 The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.

PMID 24518971 2014 A unique profile of adenomatous polyposis coli gene mutations in Iranian patients suffering sporadic colorectal cancer.

PMID 10090483 1999 Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online.

PMID 11001924 2000 Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.

PMID 8968744 1996 Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.

PMID 23244118 2012 Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis.

PMID 11839722 2002 Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation.

PMID 17604324 2008 Somatic APC mosaicism: an underestimated cause of polyposis coli.

PMID 9341879 1997 Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds.

PMID 23460355 2013 Clinical characterization and mutation spectrum in Hispanic families with adenomatous polyposis syndromes.

PMID 15951963 2005 A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.

PMID 27158207 2016 Clinicopathological features of familial adenomatous polyposis in Korean patients.

PMID 17230660 2006 Gene symbol: APC. Disease: adenomatous polyposis coli.

PMID 16883523 2006 [A novel APC gene germline mutation in a familial adenomatous polyposis pedigree].

PMID 10656683 2000 The APC-hDLG complex negatively regulates cell cycle progression from the G0/G1 to S phase.

PMID 10951583 2000 The Adenomatous Polyposis Coli-protein (APC) interacts with the protein tyrosine phosphatase PTP-BL via an alternatively spliced PDZ domain.

PMID 25208568 2014 Self-association of the APC tumor suppressor is required for the assembly, stability, and activity of the Wnt signaling destruction complex.

PMID 8844222 1996 Four novel germline mutations of the APC gene.

PMID 20033787 2010 A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype.

PMID 22941256 2012 Ovarian metastases of colorectal and duodenal cancer in familial adenomatous polyposis.

PMID 27000756 2016 Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.

PMID 15300853 2004 Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.

PMID 15833136 2005 Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

rs1057517544 in APC gene and Polyposis, Adenomatous Intestinal PMID 20223039 2005 Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

PMID 10923044 2000 Eleven novel APC mutations identified in Portuguese FAP families.

PMID 8187091 1994 Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors.

PMID 20685668 2010 Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.

PMID 26309368 2015 Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil.

PMID 23159591 2013 APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.

PMID 15459959 2004 Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

PMID 1316610 1992 Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.

PMID 15311282 2004 EB1 and APC bind to mDia to stabilize microtubules downstream of Rho and promote cell migration.

PMID 22135120 2011 Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis?

PMID 17293347 2007 Regulated binding of adenomatous polyposis coli protein to actin.

PMID 9824584 1998 Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene.

PMID 27081525 2015 Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation.

PMID 8381579 1993 Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.

PMID 15131404 2004 Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype.

PMID 18433509 2008 Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

PMID 9452101 1998 Detection of five novel germline mutations of the APC gene in Irish familial adenomatous polyposis families.

PMID 10094547 1999 Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation.

PMID 15108286 2004 Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP).

PMID 14522379 2003 Familial hepatoblastoma and APC gene mutations: renewed call for molecular research.

PMID 7746201 1995 Genetic counselling and gene mutation analysis in familial adenomatous polyposis in Western Australia.

PMID 24599579 2014 The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.

PMID 25590978 2015 Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing.

PMID 18199528 2008 Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.

PMID 1843350 1991 Physiological mechanisms of pregnancy recognition in ruminants.

PMID 9067764 1997 Three novel germline mutations in the adenomatous polyposis coli gene.

PMID 8730280 1996 Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene.

PMID 8381580 1993 Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene.

PMID 8252630 1993 Alleles of the APC gene: an attenuated form of familial polyposis.

PMID 11960572 2001 Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.

PMID 21646762 2011 [A family with attenuated familial adenomatous polyposis identified because of fundic gland polyposis].

PMID 11001924 2000 Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.

PMID 19444466 2009 APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

PMID 26446593 2016 Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.

PMID 22987206 2013 Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.

PMID 11933206 2002 APC germline mutations identified in Czech patients with familial adenomatous polyposis.

PMID 17963004 2007 Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations.

PMID 25604157 2015 High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.

PMID 10612827 2000 UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

PMID 9375853 1997 APC mutations in familial adenomatous polyposis families in the Northwest of England.

PMID 20434453 2010 Allele-specific expression of APC in adenomatous polyposis families.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 24664542 2014 Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations.

PMID 8940264 1996 Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene.

PMID 16088911 2005 Mutation spectrum of the APC gene in 83 Korean FAP families.

PMID 11247896 2001 Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families.

PMID 8395941 1993 Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.

PMID 25317407 2014 Frameshift Mutations (Deletion at Codon 1309 and Codon 849) in the APC Gene in Iranian FAP Patients: a Case Series and Review of the Literature.

PMID 23561487 2013 Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

PMID 1338764 1992 Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients.

PMID 16134147 2005 Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

PMID 9950360 1999 Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition.

PMID 8990002 1997 Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.

PMID 8103406 1993 The APC (adenomatous polyposis coli) gene: a novel mutation in an FAP patient and a DdeI polymorphism in the 5' noncoding region.

PMID 26613750 2016 Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.

PMID 20924072 2011 Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.

PMID 21110124 2011 Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype.

PMID 28127413 2017 Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

PMID 11317365 2001 Nine novel APC mutations in Italian FAP patients.

PMID 16317745 2006 Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?

PMID 1651563 1991 Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients.

PMID 1324223 1992 Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis.

PMID 12357334 2002 De novo mutations in familial adenomatous polyposis (FAP).

PMID 15951963 2005 A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.

PMID 19036155 2008 Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.

PMID 15833136 2005 Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

PMID 19793053 2009 APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.

PMID 12173026 2002 Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD).

PMID 10713886 2000 APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients.

PMID 10083733 1999 Germline mutations of the APC gene in Korean familial adenomatous polyposis patients.

PMID 15024739 2004 Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.

PMID 11748858 2001 Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis.

PMID 15108288 2004 First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.

PMID 1944466 1991 Sources of concern about the Patient Self-Determination Act.

PMID 17411426 2007 Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

PMID 26300997 2015 Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.

PMID 28944238 2017 Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

PMID 9487968 1997 An unusually severe phenotype for familial adenomatous polyposis.

PMID 12007223 2002 Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.

PMID 21779980 2011 A survey of APC mutations in Quebec.

PMID 12034871 2002 Attenuated APC alleles produce functional protein from internal translation initiation.

PMID 16461775 2006 Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 19196998 2009 Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

PMID 7959691 1994 Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis.

PMID 17489848 2007 Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.

PMID 15300853 2004 Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.

PMID 18224684 2008 Difference in characteristics of APC mutations between colonic and extracolonic tumors of FAP patients: variations with phenotype.

PMID 23460355 2013 Clinical characterization and mutation spectrum in Hispanic families with adenomatous polyposis syndromes.

PMID 15771908 2005 Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands.

PMID 17064931 2007 Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.

PMID 9101302 1997 Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques.

PMID 8162022 1994 Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.

PMID 20564245 2010 APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis.

PMID 19029688 2008 APC gene mutations causing familial adenomatous polyposis in Polish patients.

PMID 12010888 2002 Genetic and clinical characterisation of familial adenomatous polyposis: a population based study.

PMID 27158207 2016 Clinicopathological features of familial adenomatous polyposis in Korean patients.

PMID 8111416 1993 Simple, rapid, and accurate determination of deletion mutations by automated DNA sequencing of heteroduplex fragments of the adenomatous polyposis coli (APC) gene generated by PCR amplification.

PMID 21643010 2011 Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.

PMID 17426470 2007 3' Mutation of the APC gene and family history of FAP in a patient with apparently sporadic desmoid tumors.

PMID 16736293 2006 A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family.

PMID 10646887 2000 APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis.

PMID 19725996 2007 Recurrent APC gene mutations in Polish FAP families.

PMID 10090483 1999 Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online.

PMID 23085758 2013 Different APC genotypes in proximal and distal sporadic colorectal cancers suggest distinct WNT/β-catenin signalling thresholds for tumourigenesis.

PMID 23576677 2013 APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis.

PMID 24310308 2014 ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 18343606 2009 No evidence of the APC D1822V missense variant's pathogenicity in Tunisian patients with sporadic colorectal cancer.

PMID 9288102 1997 Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

PMID 23896379 2013 The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.

PMID 9751605 1998 Somatic instability of the APC I1307K allele in colorectal neoplasia.

PMID 15712637 2005 Colonic adenomas do not cosegregate with the I1307K APC missense mutation in an Israeli non-Ashkenazi family.

PMID 17854661 2007 How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population.

PMID 24416237 2014 Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract.

PMID 9724771 1998 The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.

PMID 24549056 2014 Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer.

PMID 10768871 2000 The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis.

PMID 8594558 1996 APC gene: database of germline and somatic mutations in human tumors and cell lines.

PMID 8162051 1994 Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.

PMID 24735542 2014 A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing.

PMID 8118461 1994 Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families.

PMID 17604324 2008 Somatic APC mosaicism: an underestimated cause of polyposis coli.

PMID 20513532 2010 Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis.

PMID 8381581 1993 Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis.

PMID 12486240 2002 Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC.

PMID 18794146 2008 One-hit effects in cancer: altered proteome of morphologically normal colon crypts in familial adenomatous polyposis.

PMID 20333795 2010 APC gene mutations in Chinese familial adenomatous polyposis patients.

PMID 19531215 2009 Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

PMID 24506336 2014 Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.

PMID 22150579 2012 Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli.

PMID 18063416 2008 American founder mutation for attenuated familial adenomatous polyposis.

PMID 15300576 2004 Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis.

PMID 10077047 1999 Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli.

PMID 10470088 1999 The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.

PMID 11768389 2001 A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour.

PMID 25559809 2015 Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

PMID 9585611 1998 Genotype-phenotype correlations in attenuated adenomatous polyposis coli.

PMID 18629394 2008 Colonic interposition in a woman with attenuated familial adenomatosis polyposis: does the location of the colon affect polyp formation?

PMID 8956059 1996 Three novel APC gene mutations in Portuguese FAP kindreds.

PMID 12702169 2003 Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography.

PMID 23575299 2014 Fatal extraintestinal adrenal malignancy in a 12-year-old girl with familial adenomatous polyposis.

PMID 23715166 2013 Multifocal hepatic neoplasia in 3 children with APC gene mutation.

PMID 22431159 2012 Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.

PMID 2068568 1991 Electrophoretic and nuclear magnetic resonance characterization of non-heparin glycosaminoglycans.

PMID 14961559 2003 The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.

PMID 16680592 2006 Mutational analysis of the APC gene in cribriform-morula variant of papillary thyroid carcinoma.

PMID 28533537 2017 Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

PMID 24518971 2014 A unique profile of adenomatous polyposis coli gene mutations in Iranian patients suffering sporadic colorectal cancer.

PMID 10982189 2000 Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

PMID 23244118 2012 Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis.

PMID 11839722 2002 Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation.

PMID 26414517 2016 Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes.

PMID 22164339 2011 Mutation Analysis of the APC Gene in a Chinese FAP Pedigree with Unusual Phenotype.

PMID 8844222 1996 Four novel germline mutations of the APC gene.

PMID 20033787 2010 A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype.

PMID 20649969 2010 Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.

PMID 27343414 2016 The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature.

PMID 27087319 2016 Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

PMID 8125478 1994 Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death.

PMID 27623068 2016 Age- and Gender-Specific Risk of Thyroid Cancer in Patients With Familial Adenomatous Polyposis.

rs28933379 in APC gene and Stomach Carcinoma PMID 23852704 2014 Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.