Article
Rare germline mutations in PALB2 and breast cancer risk: a population-based study.
Human mutation - 1 Apr 2012
Tischkowitz Marc, Capanu Marinela, Sabbaghian Nelly, Li Lili, Liang Xiaolin, Vallée Maxime P, Tavtigian Sean V, Concannon Patrick, Foulkes William D, Bernstein Leslie, Bernstein Jonine L, Begg Colin B
Abstract excerpt
Germline mutations in the PALB2 gene are associated with an increased risk of developing breast cancer but little is known about the frequencies of rare variants in PALB2 and the nature of the variants that influence risk. We selected participants recruited to the Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study and screened lymphocyte DNA from cases with contralateral breast cancer (n =...
Topics
- Adult
- Breast Neoplasms
- Case-Control Studies
- Fanconi Anemia Complementation Group N Protein
- Female
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans
- Introns
- Middle Aged