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Page 1
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. 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.
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. 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.
Tumour morphology predicts PALB2 germline mutation status.
Teo ZL, Provenzano E, Dite GS, Park DJ, Apicella C, Sawyer SD, James PA, Mitchell G, Trainer AH, Lindeman GJ, Shackleton K, Cicciarelli L; kConFab; Buys SS, Andrulis IL, Mulligan AM, Glendon G, John EM, Terry MB, Daly M, Odefrey FA, Nguyen-Dumont T, Giles GG, Dowty JG, Winship I, Goldgar DE, Hopper JL, Southey MC. Teo ZL, et al. Among authors: park dj. Br J Cancer. 2013 Jul 9;109(1):154-63. doi: 10.1038/bjc.2013.295. Epub 2013 Jun 20. Br J Cancer. 2013. PMID: 23787919 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: park dj. 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: park dj. Fam Cancer. 2018 Jul;17(3):345-349. doi: 10.1007/s10689-017-0050-6. Fam Cancer. 2018. PMID: 29052111 Free PMC article.
FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer.
Park DJ, Odefrey FA, Hammet F, Giles GG, Baglietto L, ABCFS, MCCS, Hopper JL, Schmidt DF, Makalic E, Sinilnikova OM, Goldgar DE, Southey MC. Park DJ, et al. Breast Cancer Res Treat. 2011 Dec;130(3):1043-9. doi: 10.1007/s10549-011-1704-y. Epub 2011 Aug 21. Breast Cancer Res Treat. 2011. PMID: 21858661
FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets.
Pope BJ, Nguyen-Dumont T, Odefrey F, Hammet F, Bell R, Tao K, Tavtigian SV, Goldgar DE, Lonie A, Southey MC, Park DJ. Pope BJ, et al. Among authors: park dj. BMC Bioinformatics. 2013 Feb 25;14:65. doi: 10.1186/1471-2105-14-65. BMC Bioinformatics. 2013. PMID: 23441864 Free PMC article.
Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots.
Nguyen-Dumont T, Mahmoodi M, Hammet F, Tran T, Tsimiklis H; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab); Giles GG, Hopper JL; Australian Breast Cancer Family Registry; Southey MC, Park DJ. Nguyen-Dumont T, et al. Among authors: park dj. Anal Biochem. 2015 Feb 1;470:48-51. doi: 10.1016/j.ab.2014.10.010. Epub 2014 Oct 30. Anal Biochem. 2015. PMID: 25447460 Free PMC article.
1,268 results