Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

BRCA1/BRCA2 Germline Mutations and Breast Cancer Risk

  • Peter Devilee
Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_713-2


Mutations in the breast cancer genes BRCA1 and BRCA2 cause elevated risks to breast cancer and ovarian cancer. BRCA1 maps to chromosome 17 (band q21); BRCA2 maps to chromosome 13 (band q12).

At the genetic level there are interesting analogies between the two genes, even though they are not detectably related by sequence. Both genes are large (coding regions of 5.6 and 10.2 kb, respectively), complex (22 and 26 coding exons, respectively), and span about 80 kb of genomic DNA. Both have extremely large central exons encoding >50 % of the protein. The majority of the mutations in both genes detected to date lead to premature termination of protein translation, presumably resulting in an inactive truncated protein. Gene changes are distributed nearly ubiquitously over the coding exons and immediate flanking introns. Even though more than half of all mutations are found only once, many mutations have been detected repeatedly in certain populations. For most of these, this has...


Breast Cancer Ovarian Cancer Breast Cancer Risk BRCA2 Mutation Deleterious Mutation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
This is a preview of subscription content, log in to check access.


  1. Devilee P (1999) BRCA1 and BRCA2 testing: weighing the demand against the benefits. Am J Hum Genet 64:943–948CrossRefPubMedPubMedCentralGoogle Scholar
  2. Ford D et al (1994) Risks of cancer in BRCA1-mutation carriers. Lancet 343:692–695CrossRefPubMedGoogle Scholar
  3. Ford D, Easton DF, Stratton M et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 62:676–689CrossRefPubMedPubMedCentralGoogle Scholar
  4. Lakhani SR, Jacquemier J, Sloane JP et al (1998) Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst 90:1138–1145CrossRefPubMedGoogle Scholar
  5. Ponder B (1997) Genetic testing for cancer risk. Science 278:1050–1054CrossRefPubMedGoogle Scholar
  6. The Breast Cancer Linkage Consortium (1997) Pathology of familial lung cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet 349:1505–1510CrossRefGoogle Scholar
  7. Welcsh PL, Owens KN, King MC (2000) Insights into the functions of BRCA1 and BRCA2. Trends Genet 16:69–74CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Human GeneticsLeiden University Medical CenterLeidenThe Netherlands