title: RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.
abstract: RAD51C is an integral part of the DNA double-strand repair through homologous recombination, and monoallelic mutations were found in ~1.3% of BRCA1/2-negative breast cancer (BC) and/or ovarian cancer (OC) families. Several studies confirmed the occurrence of RAD51C mutations predominantly in BC and/or OC families, although with varying frequencies, clearly establishing RAD51C as a cancer-predisposing gene. There is ongoing debate whether pathogenic RAD51C alterations increase the relative risk for BC in addition to that for OC, which was estimated to be 5.88 (95% confidence interval = 2.91 to 11.88; P = 7.65 × 10(-7)).
authors.forename: Gioia
authors.initials: G
authors.lastname: Schnurbein
authors.forename: Jan
authors.initials: J
authors.lastname: Hauke
authors.forename: Barbara
authors.initials: B
authors.lastname: Wappenschmidt
authors.forename: Nana
authors.initials: N
authors.lastname: Weber-Lassalle
authors.forename: Stefanie
authors.initials: S
authors.lastname: Engert
authors.forename: Heide
authors.initials: H
authors.lastname: Hellebrand
authors.forename: Lutz
authors.initials: L
authors.lastname: Garbes
authors.forename: Alexandra
authors.initials: A
authors.lastname: Becker
authors.forename: Guido
authors.initials: G
authors.lastname: Neidhardt
authors.forename: Kerstin
authors.initials: K
authors.lastname: Rhiem
authors.forename: Alfons
authors.initials: A
authors.lastname: Meindl
authors.forename: Rita K
authors.initials: RK
authors.lastname: Schmutzler
authors.forename: Eric
authors.initials: E
authors.lastname: Hahnen
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D051135:Rad51 Recombinase / Q000235:genetics*
chemical_list: C495153:RAD51 protein, human; D051135:Rad51 Recombinase