Article
Clinical significance of large rearrangements in BRCA1 and BRCA2.
Cancer - 1 Nov 2012
Judkins Thaddeus, Rosenthal Eric, Arnell Christopher, Burbidge Lynn Anne, Geary Wade, Barrus Toby, Schoenberger Jeremy, Trost Jeffrey, Wenstrup Richard J, Roa Benjamin B
Abstract excerpt
BACKGROUND: Current estimates of the contribution of large rearrangement (LR) mutations in the BRCA1 (breast cancer 1, early onset) and BRCA2 (breast cancer 2, early onset) genes responsible for hereditary breast and ovarian cancer are based on limited studies of relatively homogeneous patient populations. The prevalence of BRCA1/2 LRs was investigated in 48,456 patients with diverse clinical histories and...
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