Rare Mutations in XRCC2 Increase the Risk of Breast Cancer

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Rare Mutations in XRCC2 Increase the Risk of Breast Cancer D.J. Park, F. Lesueur, T. Nguyen-Dumont, M. Pertesi, F. Odefrey, F. Hammet, S.L. Neuhausen, E.M. John, I.L. Andrulis, M.B. Terry, M. Daly, S. Buys, F. Le Calvez-Kelm, A. Lonie, B.J. Pope, H. Tsimiklis, C. Voegele, F.M. Hilbers, N. Hoogerbrugge, A. Barroso, A. Osorio, G.G. Giles, P. Devilee, J. Benitez, J.L. Hopper, S.V. Tavtigian, D.E. Goldgar, M.C. Southey The American Journal of Human Genetics Volume 90, Issue 4, Pages 734-739 (April 2012) DOI: 10.1016/j.ajhg.2012.02.027 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of Families Found to Carry XRCC2 Mutations Mutation status is indicated for all family members for whom a DNA sample was available. Cancer diagnosis and age of onset are indicated for affected members. Asterisks indicate that DNA underwent exome sequencing (libraries for 50 bp fragment reads were prepared according to the SOLiD Baylor protocol 2.1 and the Nimblegen exome-capture protocol v.1.2 with some variations). The following abbreviations are used: BC, breast cancer (black filled symbols); PC, pancreatic cancer; BwC, bowel cancer; UC, uterine cancer; MM, malignant melanoma; UK, unknown age; BlC, bladder cancer; OC, ovarian cancer; BCC, basal cell carcinoma; L, lung cancer; (all gray-filled symbols); V, verified cancer (via cancer registry or pathology report); and wt, wild-type. Some symbols represent more than one person as indicated by a numeral. The American Journal of Human Genetics 2012 90, 734-739DOI: (10.1016/j.ajhg.2012.02.027) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 2 XRCC2 Multiple-Sequence Alignment Centered on Position Arg91 Missense substitutions observed in this interval are given with the missense residue directly above the corresponding human reference sequence residue. The following abbreviations are used: Hsap, Homo sapiens; Mmul, Macaca mulatta; Mmus, Mus musculus; Cfam, Canis familiaris; Lafr, Loxodonta africana; Mdom, Monodelphis domestica; Oana, Ornithorhynchus anatinus; Ggal, Gallus gallus; Acar, Anolis coralinensis; Xtro, Xenopus tropicalis; Drer, Danio rerio; Bflo, Branchiostoma floridae; Spur, Strongylocentrotus purpuratus; Nvec, Nematostella vectensis; and Tadh, Trichoplax adhaerans. The alignment, or updated versions thereof, is available at the Align-GVGD website (see Web Resources). The American Journal of Human Genetics 2012 90, 734-739DOI: (10.1016/j.ajhg.2012.02.027) Copyright © 2012 The American Society of Human Genetics Terms and Conditions