Condition: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2


rs1057517565 in BRCA2 gene and BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 PMID 26187060 2016 Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

PMID 8524414 1996 Identification of the breast cancer susceptibility gene BRCA2.

PMID 20736950 2010 Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis.

PMID 8988179 1997 Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene.

PMID 9585613 1998 Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study.

PMID 17850627 2007 Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families.

PMID 23199084 2010 Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

PMID 21324516 2011 Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

PMID 22009639 2012 Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.

PMID 12698193 2003 BRCA1 and BRCA2 mutations in Scotland and Northern Ireland.

PMID 12955716 2003 Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

PMID 11359068 2001 Mutation analysis of a Mauritian hereditary breast cancer family reveals the BRCA2 6503deITT mutation previously found to recur in different ethnic populations.

PMID 11597388 2001 Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 10595255 1999 Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G.

PMID 10433620 1999 Cancer risks in BRCA2 mutation carriers.

PMID 25940717 2015 Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma.

PMID 22798144 2012 Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

PMID 9150154 1997 Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.

PMID 22762150 2012 Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

PMID 12142080 2002 Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed.

PMID 24578176 2014 Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.

PMID 23683081 2013 Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).

PMID 15146557 2004 A high proportion of founder BRCA1 mutations in Polish breast cancer families.

PMID 20151322 2010 Comparative disease pattern of a patient with a novel BRCA2 truncation and knockout models for BRCA2.

PMID 19949853 2010 Two founder BRCA2 mutations predispose to breast cancer in young women.

PMID 16758124 2006 High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain).

PMID 12065746 2002 Biallelic inactivation of BRCA2 in Fanconi anemia.

PMID 24156927 2014 Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.

PMID 22729890 2012 A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 18627636 2008 Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

PMID 20807450 2010 Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age.

PMID 25382762 2015 Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.

PMID 31131967 2019 Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

PMID 15026808 2004 BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

PMID 22486713 2012 Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan.

PMID 18451181 2008 Functional assays for classification of BRCA2 variants of uncertain significance.

PMID 16115142 2005 Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia.

PMID 18489799 2008 Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

PMID 21719596 2011 A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

PMID 24312913 2013 A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

PMID 20215541 2010 A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

PMID 16792514 2006 A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13.

PMID 22505045 2012 Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

PMID 17924331 2007 A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

PMID 22632462 2012 Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.

PMID 23451180 2013 Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.

PMID 10638982 2000 Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families.

PMID 24728577 2014 Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.

PMID 21990134 2012 A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

PMID 20383589 2010 Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland.

PMID 22678057 2012 Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

PMID 23108138 2013 A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

PMID 25428789 2015 Inherited predisposition to breast cancer among African American women.

PMID 15728167 2005 Prevalence of BRCA1 and BRCA2 mutations in women diagnosed with ductal carcinoma in situ.

PMID 26004055 2016 BRCA-associated pancreatico-biliary neoplasms: Four cases illustrating the emerging clinical impact of genotyping.

PMID 29707112 2018 Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

PMID 18497862 2008 BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

PMID 26635394 2016 RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins.

PMID 21702907 2011 A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

PMID 28678401 2017 Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.

PMID 29446198 2018 Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

PMID 25682074 2015 Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

PMID 24010542 2014 High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.

PMID 15131399 2004 Cancer variation associated with the position of the mutation in the BRCA2 gene.

PMID 15918047 2005 Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families.

PMID 25371446 2015 Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.

PMID 24607278 2014 Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families.

PMID 25151137 2015 Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.

PMID 21120943 2011 EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

PMID 18006916 2007 BRCA1 and BRCA2 mutations in an Asian clinic-based population detected using a comprehensive strategy.

PMID 16683254 2006 A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

PMID 19818148 2009 Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers.

PMID 25236687 2015 Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico.

PMID 26843898 2016 Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.

PMID 24728189 2014 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

PMID 16826315 2006 BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.

PMID 10978364 2000 BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease.

PMID 17636422 2008 BRCA1/2 mutation analysis in male breast cancer families from North West England.

PMID 22682623 2012 Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico.

PMID 11802209 2002 Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

PMID 21204799 2012 A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa.

PMID 24152768 2014 Genetic risk transmission in a family affected by familial breast cancer.

PMID 25948282 2015 New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

PMID 24784157 2014 The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 24123850 2014 Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

PMID 24249303 2015 Prevalence and differentiation of hereditary breast and ovarian cancers in Japan.

PMID 25348012 2014 Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

PMID 27157322 2016 Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel.

PMID 28339459 2017 Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

PMID 26757417 2016 Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing.

PMID 26439132 2016 BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer.

PMID 18424508 2008 Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.

PMID 18703817 2008 The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families.

PMID 28111427 2017 Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

PMID 27741520 2016 Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.

PMID 18597679 2008 Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.

PMID 21990299 2011 Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer.

PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

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

PMID 16644204 2006 BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.

PMID 25366421 2015 Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing.

PMID 16912212 2006 Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years.

PMID 18284688 2008 Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

PMID 23524863 2013 Poly (ADP-ribose) polymerase (PARP) inhibitors for the treatment of advanced germline BRCA2 mutant prostate cancer.

PMID 21952622 2011 BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients.

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

PMID 11179017 2001 Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.

PMID 17262179 2007 Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.

PMID 18607349 2008 Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.

PMID 27886673 2016 In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 19043619 2008 Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

PMID 18724707 2008 Computational and structural investigation of deleterious functional SNPs in breast cancer BRCA2 gene.

PMID 20513136 2010 Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

PMID 25146914 2014 An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.

PMID 23893897 2013 Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

PMID 19200354 2009 A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.

PMID 26221963 2015 Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.

PMID 19563646 2009 A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.

PMID 20104584 2010 Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

PMID 22706548 2012 Lessons learned from a complete remission of advanced metastatic pancreatic ductal adenocarcinoma.

PMID 12960223 2003 Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families.

PMID 18824701 2008 Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.

PMID 16168118 2005 High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.

PMID 15024741 2004 BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 26296696 2015 Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening.

PMID 24830819 2014 The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay.

PMID 26681678 2016 Prospective phase II trial of trabectedin in BRCA-mutated and/or BRCAness phenotype recurrent ovarian cancer patients: the MITO 15 trial.

PMID 16455195 2007 BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations.

PMID 22217648 2012 Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.

PMID 12204006 2002 Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families.

PMID 25011685 2014 Rapid evolution of BRCA1 and BRCA2 in humans and other primates.

PMID 20167696 2010 Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.

PMID 23479189 2013 Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.

PMID 11389159 2001 BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

PMID 11857748 2002 Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain.

PMID 14985394 2004 The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation.

PMID 17445839 2007 Loss of nuclear BRCA1 protein staining in normal tissue cells derived from BRCA1 and BRCA2 mutation carriers.

PMID 18955455 2008 """BRCAness"" syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations."

PMID 25628955 2015 Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX.

PMID 16030099 2005 Prevalence of BRCA mutations and founder effect in high-risk Hispanic families.

PMID 15876480 2006 BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain.

PMID 18286383 2008 Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba.

PMID 22535016 2012 Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.

PMID 14647210 2003 A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer.

PMID 26296701 2015 Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

PMID 17688236 2007 Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.

PMID 18446624 2008 Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.

PMID 18393245 2008 [Analysis of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China].

PMID 25356972 2015 BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

PMID 24302565 2015 Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.

PMID 28807866 2017 BRCA1/2 missense mutations and the value of in-silico analyses.

PMID 26913838 2016 Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

PMID 18182601 2008 Variation of breast cancer risk among BRCA1/2 carriers.

PMID 21769658 2012 Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 17624602 2007 BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma.

PMID 22044689 2012 BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia.

PMID 23569316 2013 Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer.

PMID 12920083 2003 Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Breast Cancer Studies.

PMID 11056688 2000 BRCA1 and BRCA2 mutations in central and southern Italian patients.

PMID 25136594 2014 Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.

PMID 19654294 2009 Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma.

PMID 21895635 2012 BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica.

PMID 12048272 2002 Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO.

PMID 21913181 2012 Earlier age of onset of BRCA mutation-related cancers in subsequent generations.

PMID 12938098 2003 Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

PMID 26761715 2016 Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.

PMID 8673091 1996 BRCA2 germline mutations in male breast cancer cases and breast cancer families.

PMID 9150172 1997 BRCA2 mutations in hereditary breast and ovarian cancer in France.

PMID 9792861 1998 Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families.

PMID 20694749 2010 Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer.

PMID 19340607 2009 "Methylation not a frequent ""second hit"" in tumors with germline BRCA mutations."

PMID 26483394 2016 Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

PMID 24504028 2014 Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

PMID 27469594 2016 A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago.

PMID 11897832 2002 Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany.

PMID 16168123 2005 Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer.

PMID 17591842 2007 High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.

PMID 27125725 2016 Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype Response to: Nagy PL, Mansukhani M. The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations. Expert Rev Mol Diagn 2015;15(9):1101-5.

PMID 19423647 2009 An unusual BRCA2 allele carrying two splice site mutations.

PMID 22962691 2012 Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.

PMID 19542536 2009 BRCA2 splice site mutations in an Italian breast/ovarian cancer family.

PMID 21523855 2011 Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.

PMID 19179552 2009 Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling.

PMID 21934105 2011 An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions.

PMID 27425403 2016 Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations.

PMID 29348823 2017 Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.

PMID 19787003 2009 Breast cancer in a BRCA2 mutation carrier with a history of prostate cancer.

PMID 12491487 2003 Breast cancer genetics in African Americans.

PMID 28637432 2017 Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers.

PMID 11836363 2002 Unique de novo mutation of BRCA2 in a woman with early onset breast cancer.

PMID 15340362 2004 Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations.

PMID 24131973 2013 BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups.

PMID 19491284 2009 Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups.

PMID 21735045 2012 Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.

PMID 9361038 1997 Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes.

PMID 21497495 2011 The Korean Hereditary Breast Cancer (KOHBRA) study: protocols and interim report.

PMID 25802882 2015 Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing.

PMID 15548363 2005 BRCA2 mutations in 154 finnish male breast cancer patients.

PMID 17100994 2006 Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer.

PMID 15117986 2004 Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients.

PMID 16284991 2005 BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases.

PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

PMID 25085752 2014 Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

PMID 26306726 2015 Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.

PMID 27062684 2016 Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.

PMID 21218378 2010 Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population.

PMID 21203900 2011 Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.

PMID 15695382 2005 Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.

PMID 22895246 2012 Hereditary inflammatory breast cancer associated with BRCA2 mutation: a rare disease presentation in mother and daughter.

PMID 26287763 2015 A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.

PMID 28294317 2017 The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.

PMID 25639900 2015 Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.

PMID 28176296 2017 BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer.

PMID 24735155 2014 Clear cell sarcoma of the kidney in a child with Fanconi anemia.

PMID 23096355 2012 BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela.

PMID 16528604 2006 BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families.

PMID 26250392 2015 Deleterious BRCA1/2 mutations in an urban population of Black women.

PMID 16489001 2006 Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

PMID 16170354 2006 Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene?

PMID 9167459 1997 Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium.

PMID 22720145 2012 Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing.

PMID 22711857 2012 BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group.

PMID 26824983 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

PMID 21671020 2011 Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells.

PMID 12442275 2002 BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

PMID 23233716 2013 Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network.

PMID 12624724 2003 Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1and BRCA2genes in familial breast cancer.

PMID 11149425 2001 Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.

PMID 18779604 2008 Performance of BRCA1/2 mutation prediction models in Asian Americans.

PMID 20927582 2011 Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States.

PMID 16764716 2006 Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.

PMID 28205045 2017 Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.

PMID 12649099 2003 Predictive testing for BRCA1 and 2 mutations: a male contribution.

PMID 21947752 2012 The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent.

PMID 23704879 2013 Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

PMID 22771033 2012 BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis.

PMID 25884701 2015 A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population.

PMID 16825431 2007 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

PMID 14559878 2003 Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

PMID 9667259 1998 Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.

PMID 16234499 2005 Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry.

PMID 15887246 2005 Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France.

PMID 17899372 2008 Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

PMID 22752604 2012 BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

PMID 16905680 2007 Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer.

PMID 15168169 2004 Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families.

PMID 22666503 2012 BRCA2 mutations and triple-negative breast cancer.

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

PMID 19478387 2009 BRCA2 heterozygosity delays cytokinesis in primary human fibroblasts.

PMID 22144684 2012 Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.

PMID 22034289 2012 High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.

PMID 10227398 1999 High frequency of BRCA1/2 germline mutations in 42 Belgian families with a small number of symptomatic subjects.

PMID 12161607 2002 Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families.

PMID 22923021 2012 Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.

PMID 12942367 2003 Inherited BRCA2 mutations in African Americans with breast and/or ovarian cancer: a study of familial and early onset cases.

PMID 9150150 1997 BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2.

PMID 8665505 1996 Mutations of the BRCA2 gene in ovarian carcinomas.

PMID 14757871 2004 Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families.

PMID 20201734 2010 Identifying pancreatic cancer patients for targeted treatment: the challenges and limitations of the current selection process and vision for the future.

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