Hereditary breast cancer in Jews

被引：51
作者：
Rubinstein W. [1 ]
机构：
[1] NW Univ. Feinberg Sch. Med. Chicago, 1000 Central Street
来源：
Familial Cancer | 2004年 / 3卷 / 3-4期
关键词：
BRCA2; breast neoplasms; breast neoplasms-male; founder effect; genetic predisposition to disease; genetic screening; Jews; penetrance; prevalence;
D O I：
10.1007/s10689-004-9550-2
中图分类号：
学科分类号：
摘要：
A family history of breast cancer poses higher risks for Jewish versus non-Jewish women, particularly for early-onset breast cancer. This appears to be due in large part to the high prevalence (2.5%) of three BRCA1 and BRCA2 founder mutations in Ashkenazi Jews. About 4 to 8% of non-Jewish male breast cancer cases versus 19% of Jewish male breast cancer cases carry germline BRCA mutations. Jewish women are disproportionately impacted by BRCA mutations throughout life, with a 10% carrier rate for breast cancer diagnosed at any age and a 21 to 30% carrier rate for breast cancer diagnosed by age 40. Comparable rates in non-Jewish populations are 6.1% for breast cancer diagnosed before age 50. Lifetime penetrance estimates based on genotyping of probands have ranged widely in Jewish and non-Jewish populations. However, a study of 1008 Jewish women with breast cancer which extended genotyping to relatives found high penetrance rates with considerably smaller standard errors. This study and studies of early-onset incident breast cancer in non-Jews have found that at least half of high-risk cases would be missed by family history screening alone. While the carrier rate in non-Jewish populations is too low to consider genetic screening, the carrier rate in Ashkenazi Jews is high and genetic screening poses fewer technical barriers. The high genetic attributable cancer risks of Ashkenazi BRCA founder mutations, the sobering lethality of ovarian and early onset breast cancers, and the increasing clarity about effectiveness of medical interventions make imperative further dialogue and research to keep guidelines for genetic screening up to date.
引用
收藏
页码：249 / 257
页数：8
相关论文
共 109 条
[1]  
Jemal A., Tiwari R.C., Murray T., Et al., Cancer statistics, 2004, CA Cancer J Clin, 54, 1, pp. 8-29, (2004)
[2]  
Rubinstein W.S., O'Neill S.M., Quantitative Risk Assessment. Advanced Therapy of Breast Disease, (2004)
[3]  
Struewing J.P., Abeliovich D., Peretz T., Et al., The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals, Nat Genet, 11, 2, pp. 198-200, (1995)
[4]  
Friedman L.S., Szabo C.I., Ostermeyer E.A., Et al., Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families, Am J Hum Genet, 57, 6, pp. 1284-1297, (1995)
[5]  
Tonin P., Serova O., Lenoir G., Et al., BRCA1 mutations in Ashkenazi Jewish women, Am J Hum Genet, 57, 1, (1995)
[6]  
Berman D.B., Wagner-Costalas J., Schultz D.C., Et al., Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: A genetic study of 15 185delAG-mutation kindreds, Am J Hum Genet, 58, 6, pp. 1166-1176, (1996)
[7]  
Berman D.B., Costalas J., Schultz D.C., Et al., A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals, Cancer Res, 56, 15, pp. 3409-3414, (1996)
[8]  
Fitzgerald M.G., MacDonald D.J., Krainer M., Et al., Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer, N Engl J Med, 334, 3, pp. 143-149, (1996)
[9]  
Neuhausen S., Gilewski T., Norton L., Et al., Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer, Nat Genet, 13, 1, pp. 126-128, (1996)
[10]  
Roa B.B., Boyd A.A., Volcik K., Richards C.S., Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2, Nat Genet, 14, 2, pp. 185-187, (1996)
12345678910