OVARIAN CANCER and US: XRCC2

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Showing posts with label XRCC2. Show all posts
Showing posts with label XRCC2. Show all posts

Tuesday, April 03, 2012

abstract: Rare Mutations in XRCC2 Increase the Risk of Breast Cancer.



 Blogger's Note: see recent post for a null finding XRCC/Lynch Syndrome

Rare Mutations in XRCC2 Increase the Risk of Breast Cancer.:

Rare Mutations in XRCC2 Increase the Risk of Breast Cancer.

Am J Hum Genet. 2012 Mar 28;


Abstract

An exome-sequencing study of families with multiple breast-cancer-affected individuals identified two families with XRCC2 mutations, one with a protein-truncating mutation and one with a probably deleterious missense mutation. We performed a population-based case-control mutation-screening study that identified six probably pathogenic coding variants in 1,308 cases with early-onset breast cancer and no variants in 1,120 controls (the severity grading was p<0.02). We also performed additional mutation screening in 689 multiple-case families. We identified ten breast-cancer-affected families with protein-truncating or probably deleterious rare missense variants in XRCC2. Our identification of XRCC2 as a breast cancer susceptibility gene thus increases the proportion of breast cancers that are associated with homologous recombination-DNA-repair dysfunction and Fanconi anemia and could therefore benefit from specific targeted treatments such as PARP (poly ADP ribose polymerase) inhibitors. This study demonstrates the power of massively parallel sequencing for discovering susceptibility genes for common, complex diseases.



Friday, March 30, 2012

science daily: New breast cancer susceptibility gene (brca)



New breast cancer susceptibility gene

"....XRCC2 may also provide a new target for chemotherapy. "A type of drug called a PARP inhibitor appears to kill tumor cells that have gene mutations in a particular DNA repair pathway. XRCC2 is in this pathway, as are BRCA1 and BRCA2. It's reasonably likely that a breast cancer patient who has a mutation in XRCC2 will respond well to treatment with PARP inhibitors," said Tavtigian......."