Population attributes affecting the prevalence of BRCA mutation carriers in epithelial ovarian cancer cases in israel

Hirsh-Yechezkel, Galit; Chetrit, Angela; Lubin, Flora; Friedman, Eitan; Peretz, Tamar; Gershoni, Ruth; Rizel, Shulamit; Struewing, Jeffery P.; Modan, Baruch

doi:10.1016/s0090-8258(03)00152-5

Cited by 62 publications

(48 citation statements)

References 13 publications

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“…There were, however, cases of clear cell, mucinous, and undifferentiated carcinomas. Previous studies of clinical or population-based series of ovarian cancers have indicated that the distribution of the various histological types of ovarian cancer in BRCA1 gene mutation carriers is similar to that of non-carriers [4,6,20]. An unexpected finding among BRCA1 gene mutation carriers in our study was the occurrence of three cases of granulosa-theca cell tumors.…”

Section: Discussionsupporting

confidence: 62%

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Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from Western Sweden

et al. 2006

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Section: Discussionsupporting

confidence: 62%

“…A higher frequency of BRCA gene mutation carriers has been noted in certain populations [2][3][4] and in women with early onset of breast and ovarian cancers [5,6]. The incidence of BRCA gene mutations is much higher among women who seek genetic counseling because of a family history of breast and/or ovarian cancer [7,8].…”

Section: Introductionmentioning

confidence: 99%

Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from Western Sweden

et al. 2006

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“…In one series of nearly 800 cases of epithelial ovarian cancer reported in Israel, BRCA mutations were present in up to 55% of Ashkenazi Jewish women [70]. However, despite such a high mutation carrier rate in Ashkenazi Jews with ovarian cancer, the ovarian cancer incidence in Israel does not appear to be significantly higher than that of the general population in the US or other western countries, [70,71] and the ovarian cancer risk of an Ashkenazi woman with no family history of ovarian cancer is no higher than the risk of a nonAshkenazi woman [72]. This apparent incongruence has yet to be explained.…”

Section: Discussionmentioning

confidence: 99%

Hereditary ovarian cancer in Ashkenazi Jews

et al. 2004

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Ovarian cancer is the fourth leading cause of cancer deaths among American women. While women in both the Ashkenazi and non-Ashkenazi populations have an estimated 1.7% lifetime risk of acquiring malignancy, the proportion of hereditary ovarian cancer is much higher in the Ashkenazim. Most of this increased proportion of hereditary ovarian cancer risk is accounted for by inherited mutations in the BRCA1 and BRCA2 genes. In the Ashkenazi Jewish population, 29 to 41% of ovarian cancer is believed to be secondary to inheriting one of three founder mutations in BRCA 1 and BRCA 2, while only 10% of ovarian cancer is attributed to mutations of these genes in non-Ashkenazim. In the US population in general, it is estimated that between 1 out of 345 and 1 out of 1000 individuals carries a BRCA mutation, compared with approximately 1 in 40 individuals of Ashkenazi Jewish descent. The ovarian cancer risk up to age 70 associated with BRCA mutation carriers has been reported to be as high as 66% for BRCA1 and 27% for BRCA2 mutation carriers. Ovarian cancer in Ashkenazi kindreds has served as a model for the study of the histopathology of inherited ovarian cancers as well as for the study of risk reduction and screening among all women at inherited risk of ovarian cancer.

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“…In the AJ population, 2.5% of persons carry one of these three mutations (8), and the mutations account for 11% of breast cancer (3) and 40% of ovarian cancer (9,10). These observations suggest that genetic testing in the AJ population for these mutations fulfills WHO criteria for population screening (11,12): The disease is an important public health burden to the target population; prevalence and attributable risk of disease due to the mutations are known; and effective interventions exist.…”

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confidence: 99%

Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2

Gabai-Kapara

Lahad

Kaufman

et al. 2014

Proc. Natl. Acad. Sci. U.S.A.

319

275

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In the Ashkenazi Jewish (AJ) population of Israel, 11% of breast cancer and 40% of ovarian cancer are due to three inherited founder mutations in the cancer predisposition genes BRCA1 and BRCA2. For carriers of these mutations, risk-reducing salpingooophorectomy significantly reduces morbidity and mortality. Population screening for these mutations among AJ women may be justifiable if accurate estimates of cancer risk for mutation carriers can be obtained. We therefore undertook to determine risks of breast and ovarian cancer for BRCA1 and BRCA2 mutation carriers ascertained irrespective of personal or family history of cancer. Families harboring mutations in BRCA1 or BRCA2 were ascertained by identifying mutation carriers among healthy AJ males recruited from health screening centers and outpatient clinics. Female relatives of the carriers were then enrolled and genotyped. Among the female relatives with BRCA1 or BRCA2 mutations, cumulative risk of developing either breast or ovarian cancer by age 60 and 80, respectively, were 0.60 (± 0.07) and 0.83 (± 0.07) for BRCA1 carriers and 0.33 (± 0.09) and 0.76 (± 0.13) for BRCA2 carriers. Risks were higher in recent vs. earlier birth cohorts (P = 0.006). High cancer risks in BRCA1 or BRCA2 mutation carriers identified through healthy males provide an evidence base for initiating a general screening program in the AJ population. General screening would identify many carriers who are not evaluated by genetic testing based on family history criteria. Such a program could serve as a model to investigate implementation and outcomes of population screening for genetic predisposition to cancer in other populations. genomics I nherited mutations in BRCA1 and BRCA2 predispose to high risks of breast and ovarian cancer. Among female mutation carriers, presymptomatic surgical measures significantly reduce morbidity and mortality (1, 2). In particular, risk-reducing salpingo-oophorectomy (i.e., the removal of ovaries and fallopian tubes from a woman without ovarian cancer) reduces risk both of breast cancer and of ovarian cancer, as well as overall mortality (1). However, for many mutation carriers identified following their first cancer diagnosis, genetic testing was not previously indicated because family history did not suggest inherited cancer predisposition (3)(4)(5)6). From a prevention perspective, it is a missed opportunity to identify a woman as a BRCA1 or BRCA2 mutation carrier only after she develops cancer.Among Ashkenazi (European) Jews (AJ), three mutations, BRCA1 185delAG, BRCA1 5382insC, and BRCA2 6174delT, account for the great majority of inherited cancer risk due to BRCA1 and BRCA2 (7). In the AJ population, 2.5% of persons carry one of these three mutations (8), and the mutations account for 11% of breast cancer (3) and 40% of ovarian cancer (9, 10). These observations suggest that genetic testing in the AJ population for these mutations fulfills WHO criteria for population screening (11, 12): The disease is an important public health burden to the target popu...

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Population attributes affecting the prevalence of BRCA mutation carriers in epithelial ovarian cancer cases in israel

Cited by 62 publications

References 13 publications

Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from Western Sweden

Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from Western Sweden

Hereditary ovarian cancer in Ashkenazi Jews

Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2

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