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Page 1
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.
Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, Roeb W, Agnew KJ, Stray SM, Wickramanayake A, Norquist B, Pennington KP, Garcia RL, King MC, Swisher EM. Walsh T, et al. Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18032-7. doi: 10.1073/pnas.1115052108. Epub 2011 Oct 17. Proc Natl Acad Sci U S A. 2011. PMID: 22006311 Free PMC article.
Breast cancer genetics in African Americans.
Olopade OI, Fackenthal JD, Dunston G, Tainsky MA, Collins F, Whitfield-Broome C. Olopade OI, et al. Cancer. 2003 Jan 1;97(1 Suppl):236-45. doi: 10.1002/cncr.11019. Cancer. 2003. PMID: 12491487 Free article. Review.
Evidence for a BRCA1 founder mutation in families of West African ancestry.
Mefford HC, Baumbach L, Panguluri RC, Whitfield-Broome C, Szabo C, Smith S, King MC, Dunston G, Stoppa-Lyonnet D, Arena F. Mefford HC, et al. Am J Hum Genet. 1999 Aug;65(2):575-8. doi: 10.1086/302511. Am J Hum Genet. 1999. PMID: 10417303 Free PMC article. No abstract available.
Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).
Lecarpentier J, Noguès C, Mouret-Fourme E, Gauthier-Villars M, Lasset C, Fricker JP, Caron O, Stoppa-Lyonnet D, Berthet P, Faivre L, Bonadona V, Buecher B, Coupier I, Gladieff L, Gesta P, Eisinger F, Frénay M, Luporsi E, Lortholary A, Colas C, Dugast C, Longy M, Pujol P, Tinat J; GENEPSO; Lidereau R, Andrieu N. Lecarpentier J, et al. Breast Cancer Res. 2012 Jul 3;14(4):R99. doi: 10.1186/bcr3218. Breast Cancer Res. 2012. PMID: 22762150 Free PMC article.
Founder mutations in BRCA1 and BRCA2 genes.
Ferla R, Calò V, Cascio S, Rinaldi G, Badalamenti G, Carreca I, Surmacz E, Colucci G, Bazan V, Russo A. Ferla R, et al. Ann Oncol. 2007 Jun;18 Suppl 6:vi93-8. doi: 10.1093/annonc/mdm234. Ann Oncol. 2007. PMID: 17591843 Free article. Review.
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.
Caux-Moncoutier V, Castéra L, Tirapo C, Michaux D, Rémon MA, Laugé A, Rouleau E, De Pauw A, Buecher B, Gauthier-Villars M, Viovy JL, Stoppa-Lyonnet D, Houdayer C. Caux-Moncoutier V, et al. Hum Mutat. 2011 Mar;32(3):325-34. doi: 10.1002/humu.21414. Epub 2011 Feb 8. Hum Mutat. 2011. PMID: 21120943