Article
Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.
Breast cancer research and treatment - 1 Jan 2015
Nguyen-Dumont Tú, Hammet Fleur, Mahmoodi Maryam, Tsimiklis Helen, Teo Zhi L, Li Roger, Pope Bernard J, Terry Mary Beth, Buys Saundra S, Daly Mary, Hopper John L, Winship Ingrid, Goldgar David E, Park Daniel J, Southey Melissa C
Abstract excerpt
Loss-of-function mutations in PALB2 are associated with an increased risk of breast cancer, with recent data showing that female breast cancer risks for PALB2 mutation carriers are comparable in magnitude to those for BRCA2 mutation carriers. This study applied targeted massively parallel sequencing to characterize the mutation spectrum of PALB2 in probands attending breast cancer genetics clinics in the USA. The...
Topics
- Adult
- Aged
- Amino Acid Substitution
- Breast Neoplasms
- DNA Mutational Analysis
- Early Detection of Cancer
- Exons
- Fanconi Anemia Complementation Group N Protein
- Female