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| A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families |
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| Author(s): Peelen T, vanVliet M, PetrijBosch A, Mieremet R, Szabo C, vandenOuweland AMW, Hogervorst F, Brohet R, Ligtenberg MJL, Teugels E, vanderLuijt R, vanderHout AH, Gille JJP, Pals G, Jedema I, Olmer R, vanLeeuwen I, Newman B, Plandsoen M, vanderEst M, Brink G, Hageman S, Arts PJW, Bakker MM, Willems HW, vanderLooij E, Neyns B, Bonduelle M, Jansen R, Oosterwijk JC, Sijmons R, Smeets HJM, vanAsperen CJ, MeijersHeijboer H, Klijn JGM, deGreve J, King MC, Menko FH, Brunner HG, Halley D, vanOmmen GJB, Vasen HFA, Cornelisse CJ, vantVeer LJ, deKnijff P, Bakker E, Devilee P |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 60 Issue: 5 Pages: 1041-1049 Published: MAY 1997 |
| Times Cited: 110 References: 35 |
| Abstract: 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 outside the Netherlands. A common haplotype spanning greater than or equal to 375 kb could be identified for each of the nine examined recurrent mutations, indicating the presence of multiple BRCA1 founder mutations in the Dutch population. The 2804delAA mutation has been estimated to have originated similar to 32 generations ago, No specific breast or ovarian cancer phenotype could be assigned to any of the common mutations, and the ovarian cancer incidence among 18 families with the 2804delAA mutation was heterogeneous. |
| Document Type: Article |
| Language: English |
Addresses:
1. LEIDEN UNIV, MED CTR, DEPT HUMAN GENET, NL-2333 AL LEIDEN, NETHERLANDS
2. LEIDEN UNIV, MED CTR, DEPT PATHOL, NL-2333 AL LEIDEN, NETHERLANDS
3. LEIDEN UNIV, MED CTR, DEPT CLIN GENET, NL-2333 AL LEIDEN, NETHERLANDS
4. FDN DETECT HEREDITARY TUMORS, LEIDEN, NETHERLANDS
5. UNIV WASHINGTON, DEPT MED, DIV MED GENET, SEATTLE, WA 98195 USA
6. ERASMUS UNIV ROTTERDAM, DEPT CLIN GENET, NL-3000 DR ROTTERDAM, NETHERLANDS
7. UNIV HOSP, ROTTERDAM, NETHERLANDS
8. DANIEL DEN HOED CANC CLIN, ROTTERDAM, NETHERLANDS
9. NETHERLANDS CANC INST, DEPT PATHOL, NL-1066 CX AMSTERDAM, NETHERLANDS
10. NETHERLANDS CANC INST, DEPT EPIDEMIOL, AMSTERDAM, NETHERLANDS
11. FREE UNIV AMSTERDAM, DEPT CLIN GENET, AMSTERDAM, NETHERLANDS
12. UNIV HOSP, DEPT HUMAN GENET, NIJMEGEN, NETHERLANDS
13. UNIV HOSP, DEPT PATHOL, NIJMEGEN, NETHERLANDS
14. FREE UNIV BRUSSELS, ACAD HOSP, DEPT MED GENET & ONCOL, MOL ONCOL LAB, B-1090 BRUSSELS, BELGIUM
15. UNIV UTRECHT, DEPT HUMAN GENET, UTRECHT, NETHERLANDS
16. UNIV GRONINGEN, DEPT MED GENET, GRONINGEN, NETHERLANDS
17. UNIV N CAROLINA, CHAPEL HILL, NC USA
18. DEPT CLIN GENET, MAASTRICHT, NETHERLANDS |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: WX760 |
| ISSN: 0002-9297 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |