Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes [3]

American Journal of Human Genetics

Volumn 63, Issue 4, 1998, Pages 1224-1227

  Friedman, E ^a   Bruchim, R B S ^a   Kruglikova, A ^a   Risel, S ^a   Levy Lahad, E ^a   Halle, D ^a   Bar On, E ^a   Gershoni Baruch, R ^a   Dagan, E ^a   Kepten, I ^a   Peretz, T ^a   Lerer, I ^a   Wienberg, N ^a   Shushan, A ^a   Abeliovich, D ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

BREAST CANCER; CANCER GENETICS; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; JEW; LETTER; ONCOGENE; PRIORITY JOURNAL;

EID: 0032231918     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302040     Document Type: Letter

References (10)

1. D Abeliovich L Kaduri I Lerer N Weinberg G Amir M Sagi J Zlotogora 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 60 1997 505 514
2. M Boyd F Harris R McFarlene RH Davidson DM Black A human BRCA1 gene knockout Nature 375 1995 541 542
3. R Bruchim Bar-Sade A Kruglikova B Modan E Gak G Hirsh-Yechezkel L Theodor I Novikov The 185delAG BRCA1 mutation originated before the dispersion of Jews in the Diaspora and is not limited to Ashkenazim Hum Mol Genet 7 1998 801 805
4. R Gershoni-Baruch E Dagan I Kepten G Fried Co-segregation of BRCA1 185delAG mutation and BRCA2 6174delT in one single family Eur J Cancer 33 1997 2283 2284
5. E Levy-Lahad R Catane S Eisenberg B Kaufman G Hornreich E Lishinsky M Shohat Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and breast-ovarian cancer families Am J Hum Genet 60 1997 1059 1067
6. T Ludwig D Chapman VE Papaioannou A Efstratiadis Targeted mutations of breast cancer susceptibility gene homologes in mice: lethal phenotypes of BRCA1, BRCA2, BRCA1/BRCA2, BRCA1/p53, and BRCA2/p53 nullizygous embryos Genes Dev 11 1997 1226 1241
7. C Oddux JP Strewing MC Clayton S Neuhausen LC Brody M Kaback B Haas The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1% Nat Genet 14 1996 188 190
8. SJ Ramus LS Friedman SA Gayther AJ Ponder LG Bobrow van der Looji J Papp A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2 Nat Genet 15 1997 14 15
9. BB Roa AA Boyd K Volcik CS Richards Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2 Nat Genet 14 1996 185 187
10. JP Struewing D Abeliovich T Peretz N Avishai MK Kaback FS Collins LC Brody The carrier frequency of the BRCA1 185delAG is approximately 1 percent in Ashkenazi Jewish individuals Nat Genet 11 1995 198 200