BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome

Reflection on the Creighton University historical series of high risk families

Olga M. Sinilnikova, Sylvie Mazoyer, Colette Bonnardel, Henry T. Lynch, Steven A. Narod, Gilbert M. Lenoir

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Over the last four decades, Henry Lynch has collected pedigrees and samples from high risk breast and/or ovarian cancer families, generating a unique resource for the study of breast cancer susceptibility. These families have made a major contribution to increasing our knowledge in the cancer genetic susceptibility field, allowing the discovery of a genetic association between breast and ovarian cancer predisposition, contributing to the mapping of the BRCA1 and BRCA2 genes, advancing the idea of the existence of other breast cancer susceptibility genes, allowing the evaluation of BRCA-associated cancer risks and psychosocial aspects of BRCA testing and so on. Ten years after the cloning of BRCA1 and BRCA2, we report the current status of these families and compare the observed BRCA1/2 mutation detection rate with the estimations obtained by linkage analysis of the Breast Cancer Linkage Consortium families.

Original languageEnglish
Pages (from-to)15-20
Number of pages6
JournalFamilial Cancer
Volume5
Issue number1
DOIs
StatePublished - Mar 2006

Fingerprint

Ovarian Neoplasms
Breast Neoplasms
Mutation
BRCA2 Gene
BRCA1 Gene
Neoplasm Genes
Mutation Rate
Pedigree
Genetic Predisposition to Disease
Organism Cloning
Neoplasms

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Genetics

Cite this

BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome : Reflection on the Creighton University historical series of high risk families. / Sinilnikova, Olga M.; Mazoyer, Sylvie; Bonnardel, Colette; Lynch, Henry T.; Narod, Steven A.; Lenoir, Gilbert M.

In: Familial Cancer, Vol. 5, No. 1, 03.2006, p. 15-20.

Research output: Contribution to journalArticle

Sinilnikova, Olga M. ; Mazoyer, Sylvie ; Bonnardel, Colette ; Lynch, Henry T. ; Narod, Steven A. ; Lenoir, Gilbert M. / BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome : Reflection on the Creighton University historical series of high risk families. In: Familial Cancer. 2006 ; Vol. 5, No. 1. pp. 15-20.
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