Population BRCA1 and BRCA2 Mutation Frequencies and Cancer Penetrances: A Kin–Cohort Study in Ontario, Canada

Abstract

BRCA1 and BRCA2 mutations may be more frequent in general populations than previously thought and may be associated with various types of cancers.

Keywords

Ovarian cancerMedicinePopulationCancerOncologyInternal medicineBreast cancerIncidence (geometry)Cancer registryGermline mutationRelative riskConfidence intervalGeneticsMutationBiologyGene

Affiliated Institutions

Yale University US

Related Publications

Multifactorial Analysis of Differences Between Sporadic Breast Cancers and Cancers Involving BRCA1 and BRCA2 Mutations

Sunil R. Lakhani , J Jacquemier , J P Sloane +38 more

Our study has identified key features of the histologic phenotypes of breast cancers in carriers of mutant BRCA1 and BRCA2 genes. This information may improve the classification...

1998 JNCI Journal of the National Cancer I... 692 citations

Gene-Expression Profiles in Hereditary Breast Cancer

Ingrid Hedenfalk , David Duggan , Y Chen +23 more

Significantly different groups of genes are expressed by breast cancers with BRCA1 mutations and breast cancers with BRCA2 mutations. Our results suggest that a heritable mutati...

2001 New England Journal of Medicine 1733 citations

TP53 Mutations in Human Cancers: Origins, Consequences, and Clinical Use

Magali Olivier , Monica Hollstein , Pierre Hainaut

Somatic mutations in the TP53 gene are one of the most frequent alterations in human cancers, and germline mutations are the underlying cause of Li-Fraumeni syndrome, which pred...

2009 Cold Spring Harbor Perspectives in Bi... 2114 citations

The landscape of cancer genes and mutational processes in breast cancer

Philip J. Stephens , Patrick Tarpey , Helen Davies +59 more

All cancers carry somatic mutations in their genomes. A subset, known as driver mutations, confer clonal selective advantage on cancer cells and are causally implicated in oncog...

2012 Nature 1700 citations

BRCA1 mediates ligand-independent transcriptional repression of the estrogen receptor

Lei Zheng , Lois A. Annab , Cynthia A. Afshari +2 more

Mutational inactivation of BRCA1 confers a cumulative lifetime risk of breast and ovarian cancers. However, the underlying basis for the tissue-restricted tumor-suppressive prop...

2001 Proceedings of the National Academy o... 211 citations

Publication Info

Year: 2006
Type: article
Volume: 98
Issue: 23
Pages: 1694-1706
Citations: 672
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

Population BRCA1 and BRCA2 Mutation Frequencies and Cancer Penetrances: A Kin–Cohort Study in Ontario, Canada

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

672

OpenAlex

Cite This

APA Style

                            
                                
                                    Harvey A. Risch, 
                                
                                    Esther M. John, 
                                
                                    David E.C. Cole
                                
                                et al.
                            
                            (2006). 
                            Population BRCA1 and BRCA2 Mutation Frequencies and Cancer Penetrances: A Kin–Cohort Study in Ontario, Canada. 
                            JNCI Journal of the National Cancer Institute
                            , 98
                            (23)
                            , 1694-1706.
                            https://doi.org/10.1093/jnci/djj465
                        

Identifiers

DOI: 10.1093/jnci/djj465