Familial Breast Cancer

Since the localization and discovery of the first high‐risk breast cancer (BC) genes in 1990, there has been a substantial progress in unravelling its familial component. Increasing numbers of women at risk of BC are coming forward requesting advice on their risk and what they can do about it. Three...

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Bibliographic Details
Published in:	Clinical genetics Vol. 82; no. 2; pp. 105 - 114
Main Authors:	Lalloo, F, Evans, D G
Format:	Journal Article
Language:	English
Published:	Oxford, UK Blackwell Publishing Ltd 01-08-2012 Wiley-Blackwell
Subjects:	Biological and medical sciences BRCA1 BRCA1 protein BRCA2 BRCA2 protein Breast cancer Breast Neoplasms - diagnosis Breast Neoplasms - genetics Breast Neoplasms - therapy familial Family Female Fundamental and applied biological sciences. Psychology Genes Genes, BRCA1 Genes, BRCA2 Genes, p53 Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Gynecology. Andrology. Obstetrics Humans Mammary gland diseases Medical genetics Medical sciences Molecular and cellular biology p53 protein Penetrance Risk factors Risk groups TP53 Tumors Breast disease Family study Breast cancer Malignant tumor BRCA2 Mammary gland diseases familial TP53 Gene Familial cancer Genetics BRCA 1 TP53 Cancer
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Summary:	Since the localization and discovery of the first high‐risk breast cancer (BC) genes in 1990, there has been a substantial progress in unravelling its familial component. Increasing numbers of women at risk of BC are coming forward requesting advice on their risk and what they can do about it. Three groups of genetic predisposition alleles have so far been identified with high‐risk genes conferring 40–85% lifetime risk including BRCA1, BRCA2 and TP53. Moderate risk genes (20–40% risk) including PALB1, BRIP, ATM and CHEK2, and a host of low‐risk common alleles identified largely through genome‐wide association studies. Currently, only BRCA1, BRCA2 and TP53 are used in clinical practice on a wide scale, although testing of up to 50–100 gene loci may be possible in the future utilizing next‐generation technology. A podcast of this article is available at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399‐0004/homepage/clinical_genetics_podcasts.htm
Bibliography:	istex:EA1B05EC3423AC301D6AB659CD31BF0F49035D61 ark:/67375/WNG-6D99HML8-V ArticleID:CGE1859 ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1 ObjectType-Feature-1
ISSN:	0009-9163 1399-0004
DOI:	10.1111/j.1399-0004.2012.01859.x