Details

Autor(en) / Beteiligte

• Schnurbein, Gioia
• Hauke, Jan
• Wappenschmidt, Barbara
• Weber-Lassalle, Nana
• Engert, Stefanie
• Hellebrand, Heide
• Garbes, Lutz
• Becker, Alexandra
• Neidhardt, Guido
• Rhiem, Kerstin
• Meindl, Alfons
• Schmutzler, Rita K
• Hahnen, Eric

Titel

RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families

Ist Teil von

• Breast cancer research : BCR, 2013-12, Vol.15 (6), p.R120-R120

Ort / Verlag

England: BioMed Central

Erscheinungsjahr

2013

Quelle

MEDLINE

Beschreibungen/Notizen

• 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)).