NDLI: Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families.

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Population genetics of BRCA1 and BRCA2.

BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group.

BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2.

A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.

A low proportion of BRCA2 mutations in Finnish breast cancer families.

Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families.

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.

Study of a single BRCA2 mutation with high carrier frequency in a small population.

Screening for 185delAG in the Ashkenazim.

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

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Cost-effective sib-pair designs in the mapping of quantitative-trait loci.

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Recurrent germ-line BRCA1 mutations in extended African American families with early-onset breast cancer.

BRCA2 mutations in hereditary breast and ovarian cancer in France.

Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia.

Analysis of BRCA1 and BRCA2 mutations in Hungarian families with breast or breast-ovarian cancer.

Noncomplementation of radiation-induced chromosome aberrations in ataxia-telangiectasia/ataxia-telangiectasia-variant heterodikaryons.

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Anticipation in pediatric malignancies.

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Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Hornreich, G. Weber, B. L. Levy-Lahad, E. Kaufman, B. Lahad, A. Shohat, M. Eisenberg, S. Catane, R. Halle, D. Beller, U. Lishinsky, E.
Spatial Coverage	Europe Iran Israel
Description	Country affiliation: Israel Author Affiliation: Levy-Lahad E ( Department of Medicine, Shaare Zedek Medical Center, Jerusalem, Israel. amnonl@cc.huji.ac.il)
Abstract	Germ-line BRCA1 and BRCA2 mutations account for most of familial breast-ovarian cancer. In Ashkenazi Jews, there is a high population frequency (approximately 2%) of three founder mutations: BRCA1 185delAG, BRCA1 5382insC, and BRCA2 6174delT. This study examined the frequency of these mutations in a series of Ashkenazi women with ovarian cancer unselected for family history, compared with the frequency of these mutations in families ascertained on the basis of family history of at least two affected women. Penetrance was compared, both according to the method of family ascertainment (i.e., on the basis of an unselected ovarian cancer proband vs. on the basis of family history) and for the BRCA1 founder mutations compared with the BRCA2 6174delT mutation. There was a high frequency (10/22; [45%]) of germ-line mutations in Ashkenazi women with ovarian cancer, even in those with minimal or no family history (7/18 [39%]). In high-risk Ashkenazi families, a founder mutation was found in 59% (25/42). Families with any case of ovarian cancer were significantly more likely to segregate a founder mutation than were families with site-specific breast cancer. Penetrance was higher in families ascertained on the basis of family history than in families ascertained on the basis of an unselected proband, but this difference was not significant. Penetrance of BRCA1 185delAG and BRCA1 5382insC was significantly higher than penetrance of BRCA2 6174delT (hazard ratio 2.1 [95% CI 1.2-3.8]; two-tailed P = .01). Thus, the high rate of germ-line BRCA1/BRCA2 mutations in Ashkenazi women and families with ovarian cancer is coupled with penetrance that is lower than previously estimated. This has been shown specifically for the BRCA2 6174delT mutation, but, because of ascertainment bias, it also may be true for BRCA1 mutations.
ISSN	00029297
e-ISSN	15376605
Journal	The American Journal of Human Genetics
Issue Number	5
Volume Number	60
Language	English
Publisher	Cell Press (on behalf of American Society of Human Genetics)
Publisher Date	1997-05-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Breast Neoplasms Genetics Genes, Brca1 Jews Neoplasm Proteins Ovarian Neoplasms Transcription Factors Brca2 Protein Epidemiology Ethnology Founder Effect Gene Frequency Heterozygote Israel Mutation Research Support, Non-u.s. Gov't Discipline Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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