Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

By A. Meindl, H. Hellebrand, C. Wiek, Verena Erven, B. Wappenschmidt, D. Niederacher, M. Freund, P. Lichtner, Linda Hartmann, H. Schaal and 14 more. Nature Genetics, 2010

754 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/163a440ac2b9ec7ff45ae9939badfc5941066c4f

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In Genetics

1. John D. Potter
2. Sean V. Tavtigian
3. M. Jasin
4. M. King

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1. Weiran Feng
2. Yu Zhang
3. Rohit Prakash
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Citations in the corpus

• A survey of tools for variant analysis of next-generation genome sequencing data (2013, neutral): “tion of families [47].”
• Homologous recombination and human health: the roles of BRCA1, BRCA2 and associated proteins (2015, background): “Truncating mutations have been reported for both RAD51C and RAD51D and, in addition, missense mutations that impair the ATP-binding site have been reported for RAD51C (Meindl et al. 2010; Loveday et al. 2011, 2012; Somyajit et al. 2012).”
• Germline and Somatic Mutations in Homologous Recombination Genes Predict Platinum Response and Survival in Ovarian, Fallopian Tube, and Peritoneal Carcinomas (2013, background): “Clin Cancer Res; 20(3) February 1, 2014 Clinical Cancer Research 770”
• Patterns of genomic loss of heterozygosity predict homologous recombination repair defects in epithelial ovarian cancer (2012, background): “In this study we analysed patterns of genome-wide LOH in three different EOC data sets extensively characterised for BRCA1 and BRCA2 defects.”
• RAD51 and Breast Cancer Susceptibility: No Evidence for Rare Variant Association in the Breast Cancer Family Registry Study (2012, background): “These include rare highly penetrant mutations in BRCA1 [2,3], BRCA2 [4], and TP53 [5], and rare intermediate-risk variants in ATM [6- 8], BRIP1 [9], CHEK2 [10,11], PALB2 [12-14], and XRCC2 [15].”
• DNA interstrand crosslink repair and cancer (2011, neutral): “RAD51C , like BRCA1 , BRCA2 and BRCA1-interacting protein 1 ( BRIP1 ; which encodes FANCJ), was recently shown to be a breast and ovarian cancer predisposition gene in heterozygous carriers, and it causes an FA-like syndrome when homozygously mutate”