Protein-truncating variants in moderate-risk breast cancer susceptibility genes: A meta-analysis of high-risk case-control screening studies

• Published in: Cancer genetics Vol. 208; no. 9; pp. 455 - 463
• Main Authors: Aloraifi, Fatima, McCartan, Damian, McDevitt, Trudi, Green, Andrew J, Bracken, Adrian, Geraghty, James
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.09.2015
• Subjects: Acid Anhydride Hydrolases; Ataxia Telangiectasia Mutated Proteins - genetics; ATM; Breast Neoplasms - ethnology; Breast Neoplasms - genetics; BRIP1; Case-Control Studies; Cell Cycle Proteins - genetics; Checkpoint Kinase 2 - genetics; CHEK2; DNA Repair Enzymes - genetics; DNA-Binding Proteins - genetics; Fanconi Anemia Complementation Group Proteins; Female; Genetic Predisposition to Disease; Germ-Line Mutation; Hematology, Oncology and Palliative Medicine; hereditary breast cancer; Humans; Medical Education; Nuclear Proteins - genetics; PALB2; Protein Serine-Threonine Kinases - genetics; Risk Factors; RNA Helicases - genetics; BRIP1; ATM; hereditary breast cancer; PALB2; CHEK2

Several “moderate-risk breast cancer susceptibility genes” have been conclusively identified. Pathogenic mutations in these genes are thought to cause a two to fivefold increased risk of breast cancer. In light of the current development and use of multigene panel testing, the authors wanted to syst...