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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)).

journal_name

Breast Cancer Res

journal_title

Breast cancer research : BCR

authors

Schnurbein G,Hauke J,Wappenschmidt B,Weber-Lassalle N,Engert S,Hellebrand H,Garbes L,Becker A,Neidhardt G,Rhiem K,Meindl A,Schmutzler RK,Hahnen E

doi

10.1186/bcr3589

subject

Has Abstract

pub_date

2013-12-20 00:00:00

pages

R120

issue

6

eissn

1465-5411

issn

1465-542X

pii

bcr3589

journal_volume

15

pub_type

信件

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