Condition: Adenomatous Polyposis Coli


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.