Article
Understanding germ-line mutations in BRCA1.
Cancer biology & therapy - 1 Jun 2004
Szabo Csilla I, Worley Terri, Monteiro Alvaro N A
Abstract excerpt
Germ-line mutations in BRCA1 account for the majority of familial breast and ovarian cancer cases and development of cancer in individuals who carry such mutations requires somatic inactivation of the normal allele. BRCA1 is highly polymorphic with more than 1,200 distinct documented variants. Approximately 70% of reported variants lead to absence of full-length BRCA1 protein, through loss of expression or...
Topics
- BRCA1 Protein
- Breast Neoplasms
- Female
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans