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Rare mutations in XRCC2 increase the risk of breast cancer.
Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, Neuhausen SL, John EM, Andrulis IL, Terry MB, Daly M, Buys S, Le Calvez-Kelm F, Lonie A, Pope BJ, Tsimiklis H, Voegele C, Hilbers FM, Hoogerbrugge N, Barroso A, Osorio A; Breast Cancer Family Registry; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Giles GG, Devilee P, Benitez J, Hopper JL, Tavtigian SV, Goldgar DE, Southey MC. Park DJ, et al. Among authors: tsimiklis h. Am J Hum Genet. 2012 Apr 6;90(4):734-9. doi: 10.1016/j.ajhg.2012.02.027. Epub 2012 Mar 29. Am J Hum Genet. 2012. PMID: 22464251 Free PMC article.
Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.
Park DJ, Tao K, Le Calvez-Kelm F, Nguyen-Dumont T, Robinot N, Hammet F, Odefrey F, Tsimiklis H, Teo ZL, Thingholm LB, Young EL, Voegele C, Lonie A, Pope BJ, Roane TC, Bell R, Hu H, Shankaracharya, Huff CD, Ellis J, Li J, Makunin IV, John EM, Andrulis IL, Terry MB, Daly M, Buys SS, Snyder C, Lynch HT, Devilee P, Giles GG, Hopper JL, Feng BJ, Lesueur F, Tavtigian SV, Southey MC, Goldgar DE. Park DJ, et al. Among authors: tsimiklis h. Cancer Discov. 2014 Jul;4(7):804-15. doi: 10.1158/2159-8290.CD-14-0212. Epub 2014 May 2. Cancer Discov. 2014. PMID: 25050558 Free PMC article.
Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.
Nguyen-Dumont T, Hammet F, Mahmoodi M, Tsimiklis H, Teo ZL, Li R, Pope BJ, Terry MB, Buys SS, Daly M, Hopper JL, Winship I, Goldgar DE, Park DJ, Southey MC. Nguyen-Dumont T, et al. Among authors: tsimiklis h. Breast Cancer Res Treat. 2015 Jan;149(2):547-54. doi: 10.1007/s10549-014-3260-8. Epub 2015 Jan 10. Breast Cancer Res Treat. 2015. PMID: 25575445 Free PMC article.
Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.
Myszka A, Nguyen-Dumont T, Karpinski P, Sasiadek MM, Akopyan H, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Kitsera N, Siekierzynska A, Southey MC. Myszka A, et al. Among authors: tsimiklis h. Fam Cancer. 2018 Jul;17(3):345-349. doi: 10.1007/s10689-017-0050-6. Fam Cancer. 2018. PMID: 29052111 Free PMC article.
Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?
Nguyen-Dumont T, Teo ZL, Hammet F, Roberge A, Mahmoodi M, Tsimiklis H, Park DJ, Pope BJ, Lonie A, Kapuscinski MK, Mahmood K; ABCFR; Goldgar DE, Giles GG, Winship I, Hopper JL, Southey MC. Nguyen-Dumont T, et al. Among authors: tsimiklis h. BMC Cancer. 2018 Feb 8;18(1):165. doi: 10.1186/s12885-018-4028-z. BMC Cancer. 2018. PMID: 29422015 Free PMC article.
Rare germline genetic variants and risk of aggressive prostate cancer.
Nguyen-Dumont T, MacInnis RJ, Steen JA, Theys D, Tsimiklis H, Hammet F, Mahmoodi M, Pope BJ, Park DJ, Mahmood K, Severi G, Bolton D, Milne RL, Giles GG, Southey MC. Nguyen-Dumont T, et al. Among authors: tsimiklis h. Int J Cancer. 2020 Oct 15;147(8):2142-2149. doi: 10.1002/ijc.33024. Epub 2020 May 8. Int J Cancer. 2020. PMID: 32338768 Free article.
Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?
Nguyen-Dumont T, Karpinski P, Sasiadek MM, Akopyan H, Steen JA, Theys D, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Stembalska A, Pesz K, Kitsera N, Siekierzynska A, Southey MC, Myszka A. Nguyen-Dumont T, et al. Among authors: tsimiklis h. Genet Res (Camb). 2020 Aug 10;102:e6. doi: 10.1017/S0016672320000075. Genet Res (Camb). 2020. PMID: 32772980 Free PMC article.
Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry.
Nguyen-Dumont T, Dowty JG, Steen JA, Renault AL, Hammet F, Mahmoodi M, Theys D, Rewse A, Tsimiklis H, Winship IM, Giles GG, Milne RL, Hopper JL, Southey MC. Nguyen-Dumont T, et al. Among authors: tsimiklis h. Cancers (Basel). 2021 Mar 18;13(6):1378. doi: 10.3390/cancers13061378. Cancers (Basel). 2021. PMID: 33803639 Free PMC article.
Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer.
Nguyen-Dumont T, Dowty JG, MacInnis RJ, Steen JA, Riaz M, Dugué PA, Renault AL, Hammet F, Mahmoodi M, Theys D, Tsimiklis H, Severi G, Bolton D, Lacaze P, Sebra R, Schadt E, McNeil J, Giles GG, Milne RL, Southey MC. Nguyen-Dumont T, et al. Among authors: tsimiklis h. Cancers (Basel). 2021 Mar 24;13(7):1495. doi: 10.3390/cancers13071495. Cancers (Basel). 2021. PMID: 33804961 Free PMC article.
45 results