Article
A common Greenlandic Inuit BRCA1 RING domain founder mutation.
Breast cancer research and treatment - 1 May 2009
Hansen Thomas V O, Ejlertsen Bent, Albrechtsen Anders, Bergsten Eva, Bjerregaard Peter, Hansen Torben, Myrhøj Torben, Nielsen Peter B, Timmermans-Wielenga Vera, Andersen Mette K, Jønson Lars, Nielsen Finn C
Abstract excerpt
Germ-line mutations in the tumour suppressor proteins BRCA1 and BRCA2 predispose to breast and ovarian cancer. We examined 32 breast and/or ovarian cancer patients from Greenland for mutations in BRCA1 and BRCA2. Whereas no mutations were identified in 19 families, 13 families exhibited a BRCA1 exon 3 nucleotide 234 T > G mutation, which has not previously been reported in the breast cancer information core (BIC)...
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