Article
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.
American journal of human genetics - 1 May 1997
Peelen T, van Vliet M, Petrij-Bosch A, Mieremet R, Szabo C, van den Ouweland A M, Hogervorst F, Brohet R, Ligtenberg M J, Teugels E, van der Luijt R, van der Hout A H, Gille J J, Pals G, Jedema I, Olmer R, van Leeuwen I, Newman B, Plandsoen M, van der Est M, Brink G, Hageman S, Arts P J, Bakker M M, Devilee P
Abstract excerpt
We have identified 79 mutations in BRCA1 in a set of 643 Dutch and 23 Belgian hereditary breast and ovarian cancer families collected either for research or for clinical diagnostic purposes. Twenty-eight distinct mutations have been observed, 18 of them not previously reported and 12 of them occurring more than once. Most conspicuously, a 2804delAA mutation has been found 19 times and has never been reported...
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