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01.12.2013 | Letter

RAD51Cdeletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families

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

Erschienen in: Breast Cancer Research | Ausgabe 6/2013

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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 [1]. 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 [2‐4]. 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) [2]. …

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Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deissler H, Engel C, Müller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, Schmutzler RK, Hanenberg H: Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet. 2010, 42: 410-414. 10.1038/ng.569.CrossRefPubMed

Loveday C, Turnbull C, Ruark E, Xicola RM, Ramsay E, Hughes D, Warren-Perry M, Snape K, Evans DG ED, Gore M, Renwick A, Seal S, Antoniou AC, Rahman N, Breast Cancer Susceptibility Collaoration (UK): Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet. 2012, 44: 475-476. 10.1038/ng.2224. author reply 476CrossRefPubMed

Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomaki K, Butzow R, Nevanlinna H: RAD51C is a susceptibility gene for ovarian cancer. Hum Mol Genet. 2011, 20: 3278-3288. 10.1093/hmg/ddr229.CrossRefPubMed

Thompson ER, Boyle SE, Johnson J, Ryland GL, Sawyer S, Choong DY, ConFab K, Chenevix-Trench G, Trainer AH, Lindeman GJ, Mitchell G, James PA, Campbell IG: Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. Hum Mutat. 2012, 33: 95-99. 10.1002/humu.21625.CrossRefPubMed

Stevens KN, Vachon CM, Couch FJ: Genetic susceptibility to triple-negative breast cancer. Cancer Res. 2013, 73: 2025-2030. 10.1158/0008-5472.CAN-12-1699.CrossRefPubMedPubMedCentral

Wappenschmidt B, Becker AA, Hauke J, Weber U, Engert S, Köhler J, Kast K, Arnold N, Rhiem K, Hahnen E, Meindl A, Schmutzler RK: Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction. PLoS One. 2012, 7: e50800-10.1371/journal.pone.0050800.CrossRefPubMedPubMedCentral

Titel: RAD51Cdeletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families
verfasst von: Gioia Schnurbein
Jan Hauke
Barbara Wappenschmidt
Nana Weber-Lassalle
Stefanie Engert
Heide Hellebrand
Lutz Garbes
Alexandra Becker
Guido Neidhardt
Kerstin Rhiem
Alfons Meindl
Rita K Schmutzler
Eric Hahnen
Publikationsdatum: 01.12.2013
Verlag: BioMed Central
Erschienen in: Breast Cancer Research / Ausgabe 6/2013
Elektronische ISSN: 1465-542X
DOI: https://doi.org/10.1186/bcr3589

Springer Medizin

RAD51Cdeletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families

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Springer Medizin

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