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A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization.

Jeyasekharan AD, Liu Y, Hattori H, Pisupati V, Jonsdottir AB, Rajendra E, Lee M, Sundaramoorthy E, Schlachter S, Kaminski CF, Ofir-Rosenfeld Y, Sato K, Savill J, Ayoub N, Venkitaraman AR. Jeyasekharan AD, et al. Nat Struct Mol Biol. 2013 Oct;20(10):1191-8. doi: 10.1038/nsmb.2666. Epub 2013 Sep 8. Nat Struct Mol Biol. 2013. PMID: 24013206 Free PMC article.

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

Infante M, Durán M, Acedo A, Sánchez-Tapia EM, Díez-Gómez B, Barroso A, García-González M, Feliubadaló L, Lasa A, de la Hoya M, Esteban-Cardeñosa E, Díez O, Martínez-Bouzas C, Godino J, Teulé A, Osorio A, Lastra E, González-Sarmiento R, Miner C, Velasco EA. Infante M, et al. Carcinogenesis. 2013 Nov;34(11):2505-11. doi: 10.1093/carcin/bgt272. Epub 2013 Aug 8. Carcinogenesis. 2013. PMID: 23929434 Free article.

Tumour diploidy and survival in breast cancer patients with BRCA2 mutations.

Tryggvadottir L, Olafsdottir EJ, Olafsdottir GH, Sigurdsson H, Johannsson OT, Bjorgvinsson E, Alexiusdottir K, Stefansson OA, Agnarsson BA, Narod SA, Eyfjord JE, Jonasson JG. Tryggvadottir L, et al. Breast Cancer Res Treat. 2013 Jul;140(2):375-84. doi: 10.1007/s10549-013-2637-4. Epub 2013 Jul 16. Breast Cancer Res Treat. 2013. PMID: 23857704

Loss of heterozygosity at 13q13 and 14q32 predicts BRCA2 inactivation in luminal breast carcinomas.

Pécuchet N, Popova T, Manié E, Lucchesi C, Battistella A, Vincent-Salomon A, Caux-Moncoutier V, Bollet M, Sigal-Zafrani B, Sastre-Garau X, Stoppa-Lyonnet D, Stern MH. Pécuchet N, et al. Int J Cancer. 2013 Dec 15;133(12):2834-42. doi: 10.1002/ijc.28315. Epub 2013 Jul 10. Int J Cancer. 2013. PMID: 23754601 Free article.

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.

Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T, McGuffog L, Barrowdale D, Dunning AM, Lee A, Dennis J, Healey S, Dicks E, Soucy P, Sinilnikova OM, Pankratz VS, Wang X, Eldridge RC, Tessier DC, Vincent D, Bacot F, Hogervorst FB, Peock S, Stoppa-Lyonnet D; KConFab Investigators; Peterlongo P, Schmutzler RK, Nathanson KL, Piedmonte M, Singer CF, Thomassen M; Ontario Cancer Genetics Network; Hansen Tv, Neuhausen SL, Blanco I, Greene MH, Garber J, Weitzel JN, Andrulis IL, Goldgar DE, D'Andrea E, Caldes T, Nevanlinna H, Osorio A, van Rensburg EJ, Arason A, Rennert G, van den Ouweland AM, van der Hout AH, Kets CM, Aalfs CM, Wijnen JT, Ausems MG; HEBON; EMBRACE; Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Jacobs C, Adlard J, Tischkowitz M, Porteous ME, Damiola F; GEMO Study Collaborators; Golmard L, Barjhoux L, Longy M, Belotti M, Ferrer SF, Mazoyer S, Spurdle AB, Manoukian S, Barile M, Genuardi M, Arnold N, Meindl A, Sutter C, Wappenschmidt B, Domchek SM, Pfeiler G, Friedman E, Jensen UB, Robson M, Shah S, Lazaro C, Mai PL, Benitez J, Southey MC, Schmidt MK, Fasching PA, Peto J, Humphreys MK, Wang Q, Michailidou K, Sawyer EJ, Burwinkel B, Guénel P, Bojesen SE, Milne RL… See abstract for full author list ➔ Gaudet MM, et al. PLoS Genet. 2013;9(3):e1003173. doi: 10.1371/journal.pgen.1003173. Epub 2013 Mar 27. PLoS Genet. 2013. PMID: 23544012 Free PMC article.

Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations.

Rouault A, Banneau G, Macgrogan G, Jones N, Elarouci N, Barouk-Simonet E, Venat L, Coupier I, Letouzé E, de Reyniès A, Bonnet F, Iggo R, Sévenet N, Longy M. Rouault A, et al. PLoS One. 2012;7(12):e52079. doi: 10.1371/journal.pone.0052079. Epub 2012 Dec 21. PLoS One. 2012. PMID: 23284877 Free PMC article.

Baseline E(2) levels are higher in BRCA2 mutation carriers: a potential target for prevention?

Kim J, Oktay K. Kim J, et al. Cancer Causes Control. 2013 Mar;24(3):421-6. doi: 10.1007/s10552-012-0127-3. Epub 2012 Dec 28. Cancer Causes Control. 2013. PMID: 23271408 Free PMC article.

Secondary mutations in BRCA2 associated with clinical resistance to a PARP inhibitor.

Barber LJ, Sandhu S, Chen L, Campbell J, Kozarewa I, Fenwick K, Assiotis I, Rodrigues DN, Reis Filho JS, Moreno V, Mateo J, Molife LR, De Bono J, Kaye S, Lord CJ, Ashworth A. Barber LJ, et al. J Pathol. 2013 Feb;229(3):422-9. doi: 10.1002/path.4140. J Pathol. 2013. PMID: 23165508

Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas.

Deb S, Jene N; Kconfab Investigators; Fox SB. Deb S, et al. BMC Cancer. 2012 Nov 9;12:510. doi: 10.1186/1471-2407-12-510. BMC Cancer. 2012. PMID: 23146383 Free PMC article.

High grade prostatic intraepithelial neoplasia does not display loss of heterozygosity at the mutation locus in BRCA2 mutation carriers with aggressive prostate cancer.

Willems-Jones A, Kavanagh L, Clouston D, Bolton D; kConFab Investigators; Fox S, Thorne H. Willems-Jones A, et al. BJU Int. 2012 Dec;110(11 Pt C):E1181-6. doi: 10.1111/j.1464-410X.2012.11519.x. Epub 2012 Oct 4. BJU Int. 2012. PMID: 23035815

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