Turnbull, C. & Rahman, N. Genetic predisposition to breast cancer: past, present, and future. Annu. Rev. Genomics Hum. Genet. 9, 321–345 (2008).
Ciccia, A., McDonald, N. & West, S.C. Structural and functional relationships of the XPF/MUS81 family of proteins. Annu. Rev. Biochem. 77, 259–287 (2008).
Wang, W. Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat. Rev. Genet. 8, 735–748 (2007).
Neveling, K., Endt, D., Hoehn, H. & Schindler, D. Genotype-phenotype correlations in Fanconi anemia. Mutat. Res. 668, 73–91 (2009).
Vaz, F. et al. Mutation of the RAD51C gene in Fanconi anemia. Nat. Genet. advance online publication, doi:10.1038/ng.570 (18 April 2010).
Howlett, N.G. et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297, 606–609 (2002).
Reid, S. et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat. Genet. 39, 162–164 (2007).
Xia, B. et al. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat. Genet. 39, 159–161 (2007).
Thacker, J. The RAD51 gene family, genetic instability and cancer. Cancer Lett. 219, 125–135 (2005).
Arking, D.E. et al. A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat. Genet. 38, 644–651 (2006).
Freund, M. et al. A novel approach to describe a U1 snRNA binding site. Nucleic Acids Res. 31, 6963–6975 (2003).
Betz, B. et al. Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. J. Cancer Res. Clin. Oncol. published online (8 August 2009).
Hanenberg, H. et al. Colocalization of retrovirus and target cells on specific fibronectin fragments increases genetic transduction of mammalian cells. Nat. Med. 2, 876–882 (1996).
Takata, M. et al. Chromosome instability and defective recombinational repair in knockout mutants of the five Rad51 paralogs. Mol. Cell. Biol. 21, 2858–2866 (2001).
Badie, S. et al. RAD51C facilitates checkpoint signaling by promoting CHK2 phosphorylation. J. Cell Biol. 185, 587–600 (2009).
Liu, Y., Masson, J.Y., Shah, R., O′Regan, P. & West, S.C. RAD51C is required for Holliday junction processing in mammalian cells. Science 303, 243–246 (2004).
Katsura, M. et al. The ATR-Chk1 pathway plays a role in the generation of centrosome aberrations induced by Rad51C dysfunction. Nucleic Acids Res. 37, 3959–3968 (2009).
King, M.C., Marks, J.H. & Mandell, J.B. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302, 643–646 (2003).
Lakhani, S.R. et al. Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J. Natl. Cancer Inst. 90, 1138–1145 (1998).
Lakhani, S.R. et al. Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin. Cancer Res. 10, 2473–2481 (2004).
Lakhani, S.R. et al. Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin. Cancer Res. 11, 5175–5180 (2005).
Dosanjh, M.K. et al. Isolation and characterization of RAD51C, a new human member of the RAD51 family of related genes. Nucleic Acids Res. 26, 1179–1184 (1998).
Kuznetsov, S.G., Haines, D.C., Martin, B.K. & Sharan, S.K. Loss of Rad51c leads to embryonic lethality and modulation of Trp53-dependent tumorigenesis in mice. Cancer Res. 69, 863–872 (2009).
Thomas, G. et al. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat. Genet. 41, 579–584 (2009).
Jones, S. et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 324, 217 (2009).
Walsh, T. & King, M.C. Ten genes for inherited breast cancer. Cancer Cell 11, 103–105 (2007).
Meindl, A. & German Consortium for Hereditary Breast and Ovarian Cancer Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int. J. Cancer 97, 472–480 (2002).
Engert, S. et al. MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases. Hum. Mutat. 29, 948–958 (2008).
Holle, R., Happich, M., Lowel, H. & Wichmann, H.E. KORA–a research platform for population based health research. Gesundheitswesen 67 (Suppl. 1), S19–S25 (2005).
Wichmann, H.E., Gieger, C. & Illig, T. KORA-gen–resource for population genetics, controls and a broad spectrum of disease phenotypes. Gesundheitswesen 67 (Suppl. 1), S26–S30 (2005).
Tang, K. et al. Chip-based genotyping by mass spectrometry. Proc. Natl. Acad. Sci. USA 96, 10016–10020 (1999).
Freund, M. et al. Extended base pair complementarity between U1 snRNA and the 5′ splice site does not inhibit splicing in higher eukaryotes, but rather increases 5′ splice site recognition. Nucleic Acids Res. 33, 5112–5119 (2005).
Hanenberg, H. et al. Optimization of fibronectin-assisted retroviral gene transfer into human CD34+ hematopoietic cells. Hum. Gene Ther. 8, 2193–2206 (1997).
Hanenberg, H. et al. Phenotypic correction of primary Fanconi anemia T cells from patients with retroviral vectors as a diagnostic tool. Exp. Hematol. 30, 410–420 (2002).
Rio, P. & Hanenberg, H. Functional knock-down of human RAD51 for testing the Fanconi anemia-BRCA connection. in Fanconi Anemia: A Paradigmatic Disease for the Understanding of Cancer and Aging (eds. Schindler, D. & Hoehn, H.) 211–225 (Karger, Basel, Switzerland, 2007).