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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. 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.
Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.
Nguyen-Dumont T, Teo ZL, Pope BJ, Hammet F, Mahmoodi M, Tsimiklis H, Sabbaghian N, Tischkowitz M, Foulkes WD; 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. BMC Med Genomics. 2013 Nov 8;6:48. doi: 10.1186/1755-8794-6-48. BMC Med Genomics. 2013. PMID: 24206657 Free PMC article.
Abridged adapter primers increase the target scope of Hi-Plex.
Nguyen-Dumont T, Hammet F, Mahmoodi M, Pope BJ, Giles GG, Hopper JL, Southey MC, Park DJ. Nguyen-Dumont T, et al. Biotechniques. 2015 Jan 1;58(1):33-6. doi: 10.2144/000114247. eCollection 2015 Jan. Biotechniques. 2015. PMID: 25605578 Free article.
COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration.
COMPLEXO; Southey MC, Park DJ, Nguyen-Dumont T, Campbell I, Thompson E, Trainer AH, Chenevix-Trench G, Simard J, Dumont M, Soucy P, Thomassen M, Jønson L, Pedersen IS, Hansen TV, Nevanlinna H, Khan S, Sinilnikova O, Mazoyer S, Lesueur F, Damiola F, Schmutzler R, Meindl A, Hahnen E, Dufault MR, Chris Chan T, Kwong A, Barkardóttir R, Radice P, Peterlongo P, Devilee P, Hilbers F, Benitez J, Kvist A, Törngren T, Easton D, Hunter D, Lindstrom S, Kraft P, Zheng W, Gao YT, Long J, Ramus S, Feng BJ, Weitzel JN, Nathanson K, Offit K, Joseph V, Robson M, Schrader K, Wang S, Kim YC, Lynch H, Snyder C, Tavtigian S, Neuhausen S, Couch FJ, Goldgar DE. COMPLEXO, et al. Breast Cancer Res. 2013 Jun 21;15(3):402. doi: 10.1186/bcr3434. Breast Cancer Res. 2013. PMID: 23809231 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.
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.