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Page 1
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.
Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, McArthur-Morrison J, Nguyen K, Peng Y, Samson C, Schroeder M, Snyder SC, Steele L, Stringfellow M, Stroup C, Swedlund B, Swense J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AK, Shizuya H, Eyfjord JE, Cannon-Albright L, Tranchant M, Labrie F, Skolnick MH, Weber B, Kamb A, Goldgar DE. Tavtigian SV, et al. Nat Genet. 1996 Mar;12(3):333-7. doi: 10.1038/ng0396-333. Nat Genet. 1996. PMID: 8589730
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL. Borg A, et al. Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202. Hum Mutat. 2010. PMID: 20104584 Free PMC article.
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
Li J, Meeks H, Feng BJ, Healey S, Thorne H, Makunin I, Ellis J; kConFab Investigators; Campbell I, Southey M, Mitchell G, Clouston D, Kirk J, Goldgar D, Chenevix-Trench G. Li J, et al. J Med Genet. 2016 Jan;53(1):34-42. doi: 10.1136/jmedgenet-2015-103452. Epub 2015 Nov 3. J Med Genet. 2016. PMID: 26534844 Free PMC article.
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
Meisel C, Sadowski CE, Kohlstedt D, Keller K, Stäritz F, Grübling N, Becker K, Mackenroth L, Rump A, Schröck E, Arnold N, Wimberger P, Kast K. Meisel C, et al. Arch Gynecol Obstet. 2017 May;295(5):1227-1238. doi: 10.1007/s00404-017-4330-z. Epub 2017 Mar 21. Arch Gynecol Obstet. 2017. PMID: 28324225