The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation

Author:

Bergman Annika,Einbeigi Zakaria,Olofsson Ulrica,Taib Ziad,Wallgren Arne,Karlsson Per,Wahlström Jan,Martinsson Tommy,Nordling Margareta

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference30 articles.

1. Miki Y, Swensen J, Shattuck-Eidens D et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 Science 1994 266: 66–71

2. Wooster R, Neuhausen SL, Mangion J et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13 Science 1994 265: 2088–2090

3. Abeliovich D, Kaduri L, Lerer I et al. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women Am J Hum Genet 1997 60: 505–514

4. Tonin P, Weber B, Offit K, et al. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families Nat Med 1996 2(11): 1179–1183

5. Levy-Lahad E, Catane R, Eisenberg S et al. Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families Am J Hum Genet 1997 60(5): 1059–1067

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