Article
Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.
PloS one - 1 Jan 2013
Gracia-Aznarez Francisco Javier, Fernandez Victoria, Pita Guillermo, Peterlongo Paolo, Dominguez Orlando, de la Hoya Miguel, Duran Mercedes, Osorio Ana, Moreno Leticia, Gonzalez-Neira Anna, Rosa-Rosa Juan Manuel, Sinilnikova Olga, Mazoyer Sylvie, Hopper John, Lazaro Conchi, Southey Melissa, Odefrey Fabrice, Manoukian Siranoush, Catucci Irene, Caldes Trinidad, Lynch Henry T, Hilbers Florentine S M, van Asperen Christi J, Vasen Hans F A, Goldgar David, Radice Paolo, Devilee Peter, Benitez Javier
Abstract excerpt
The identification of the two most prevalent susceptibility genes in breast cancer, BRCA1 and BRCA2, was the beginning of a sustained effort to uncover new genes explaining the missing heritability in this disease. Today, additional high, moderate and low penetrance genes have been identified in breast cancer, such as P53, PTEN, STK11, PALB2 or ATM, globally accounting for around 35 percent of the familial cases....
Topics
- Alleles
- Breast Neoplasms
- Exome
- Female
- Genes, BRCA1
- Genes, BRCA2
- Humans