The emerging landscape of breast cancer susceptibility

• Published in: Nature genetics Vol. 40; no. 1; pp. 17 - 22
• Main Authors: Stratton, Michael R, Rahman, Nazneen
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.01.2008; Nature Publishing Group
• Subjects: Agriculture; Alleles; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Breast cancer; Breast Neoplasms - genetics; Cancer Research; Disease susceptibility; Female; Fundamental and applied biological sciences. Psychology; Gene Function; Genetic aspects; Genetic Predisposition to Disease; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; Gynecology. Andrology. Obstetrics; Human Genetics; Humans; Mammary gland diseases; Medical sciences; Mutation; Penetrance; perspective; Risk factors; Tumors; United Kingdom; Mammary gland diseases; Breast cancer; Malignant tumor; Cancer
• ISSN: 1061-4036; 1546-1718; 1546-1718
• DOI: 10.1038/ng.2007.53

The genetic basis of inherited predisposition to breast cancer has been assiduously investigated for the past two decades and has been the subject of several recent discoveries. Three reasonably well-defined classes of breast cancer susceptibility alleles with different levels of risk and prevalence in the population have become apparent: rare high-penetrance alleles, rare moderate-penetrance alleles and common low-penetrance alleles. The contribution of each component to breast cancer predisposition is still to be fully explored, as are the phenotypic characteristics of the cancers associated with them, the ways in which they interact, much of their biology and their clinical utility. These recent advances herald a new chapter in the exploration of susceptibility to breast cancer and are likely to provide insights relevant to other common, heterogeneous diseases.