title: Beyond BRCA: new hereditary breast cancer susceptibility genes.
abstract: Approximately 5-10% of breast cancer cases might be inheritable, up to 30% of which are due to BRCA1/2 mutations. During the past few years and thanks to technology evolution, we have been witnesses of an intensive search of additional genes with similar characteristics, under the premise that successful gene discovery will provide substantial opportunities for primary and secondary prevention of breast cancer. Consequently, new genes have emerged as breast cancer susceptibility genes, including rare germline mutations in high penetrant genes, such as TP53 and PTEN, and more frequent mutations in moderate penetrant genes, such as CHEK2, ATM and PALB2. This review will summarize current data on new findings in breast cancer susceptibility genes.
authors.affiliation: Oncology Unit, 2nd Department of Internal Medicine, Attikon University Hospital, National Kapodistrian University of Athens, Greece. Electronic address: panagiota_oiko@hotmail.com.
authors.forename: P
authors.initials: P
authors.lastname: Economopoulou
authors.affiliation: Oncology Unit, 2nd Department of Internal Medicine, Attikon University Hospital, National Kapodistrian University of Athens, Greece.
authors.forename: G
authors.initials: G
authors.lastname: Dimitriadis
authors.affiliation: Oncology Unit, 2nd Department of Internal Medicine, Attikon University Hospital, National Kapodistrian University of Athens, Greece.
authors.forename: A
authors.initials: A
authors.lastname: Psyrri
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics; D055088:Early Detection of Cancer; D005260:Female; D052138:Genes, Neoplasm; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D009363:Neoplasm Proteins / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D014408:Biomarkers, Tumor; D005819:Genetic Markers; D009363:Neoplasm Proteins
keywords: Breast cancer susceptibility genes; Hereditary breast cancer; PALB2; PTEN; TP53