Multigene testing of moderate-risk genes: be mindful of the missense.
Salt Lake City, United States. In J Med Genet, Feb 2016
METHODS: We evaluated rare missense substitutions identified from a mutation screen of ATM, CHEK2, MRE11A, RAD50, NBN, RAD51, RINT1, XRCC2 and BARD1 in 1297 cases of early-onset breast cancer and 1121 controls via scores from Align-Grantham Variation Grantham Deviation (GVGD), combined annotation dependent depletion (CADD), multivariate analysis of protein polymorphism (MAPP) and PolyPhen-2.
Inherited Mutations in Women With Ovarian Carcinoma.
Providence, United States. In Jama Oncol, Jan 2016
Mutations in BRIP1 (n = 26), RAD51C (n = 11), RAD51D (n = 11), PALB2 (n = 12), and BARD1 (n = 4) were significantly more common in patients with OC than in the ESP or ExAC, present in 3.3%.
Genetic characterization of early onset ovarian carcinoma.
Seattle, United States. In Gynecol Oncol, Jan 2016
We evaluated 11 genes associated with ovarian carcinoma (BARD1, BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51D, and RAD51C) and additional candidate genes in DNA repair (ATM, BAP1, CHEK2, MRE11A, NBN, PTEN, TP53).
Clinicopathological values of NBS1 and DNA damage response genes in epithelial ovarian cancers.
Seoul, South Korea. In Exp Mol Med, 2014
As ovarian cancers frequently respond to DNA-damaging agents, we assessed the clinicopathological significance of key double-strand DNA break (DSB) repair genes, including BRCA1, BRCA2, BARD1, ATM, RAD51 and NBS1 in EOC cell lines and paraffin-embedded tissue sections from 140 EOC patients treated with cytoreductive surgery, followed by platinum-based chemotherapy.
Luring BRCA1 to the scene of the crime.
New York City, United States. In Cancer Cell, 2013
In this issue of Cancer Cell, Li and Yu report that BRCA1 recruitment involves a novel interaction between its partner protein BARD1 and poly(ADP-ribose) chains at the DSB.
53BP1 regulates DSB repair using Rif1 to control 5' end resection.
New York City, United States. In Science, 2013
Rif1 inhibits resection involving CtIP, BLM, and Exo1; limits accumulation of BRCA1/BARD1 complexes at sites of DNA damage; and defines one of the mechanisms by which 53BP1 causes chromosomal abnormalities in Brca1-deficient cells.