Hereditary ovarian cancer in Ashkenazi Jews

Robles-Díaz, Luis; Goldfrank, Deborah J.; Kauff, Noah D.; Robson, Mark E.; Offit, Kenneth

doi:10.1007/s10689-004-9552-0

Cited by 39 publications

(28 citation statements)

References 68 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Approximately 40% of Jewish women who present with ovarian cancer will carry a founder mutation. 31 Even after removing those with a family history of breast or ovarian cancer, women with Jewish ethnic backgrounds remain at approximately a 30% increased in risk for ovarian cancer.…”

Section: Discussionmentioning

confidence: 99%

Assessing Ovarian Cancer Risk When Considering Elective Oophorectomy at the Time of Hysterectomy

Cramer¹

2011

Obstetrics &Amp; Gynecology

View full text Add to dashboard Cite

Objective-To develop a risk-factor score that may provide additional guidance to women and their physicians regarding elective bilateral salpingo-oophorectomy at the time of hysterectomy.Methods-From a case-control study conducted from 1992 to 2008 in women residing in eastern Massachusetts or New Hampshire, we selected 1,098 women with invasive ovarian cancer (case group) and 1,363 for the control group who were older than 40 years and had neither hysterectomy nor a personal or family history of breast or ovarian cancer. Using logistic regression, we identified key risk factors and built a risk score. The score was separately assessed in 126 women in the case group and 156 in the control group with excluded prior hysterectomy to determine whether women who developed ovarian cancer could have been distinguished.Results-Summing eight conditions found to be associated with ovarian cancer (Jewish ethnicity, less than 1 year of oral contraceptive use, nulliparity, no breastfeeding, no tubal ligation, painful periods or endometriosis, polycystic ovary syndrome or obesity, talc use), we created a five-level score. Assigning average risk to those with a score of 2, the odds ratios varied from 0.56 (95% confidence interval [CI] 0.42-0.74) for a score of 0-1 to 3.30 (95% CI 2.50-4.35) for a score of 5 or greater (P trend <.001). The risk score was higher for women who developed ovarian cancer after hysterectomy than those who did not (P=.01). Lifetime risks for ovarian cancer for a woman at age 40 years are changed from 1.2% with a 0-1 score to 6.6% with a score of 5 or higher.Conclusion-We developed a risk-assessment tool that can quantify women's risk for ovarian cancer and should be validated in other data sets.In the 1990s, there were approximately 600,000 hysterectomies performed in the United States annually and 55% of these also involved bilateral salpin-go-oophorectomy, 1 many done solely to reduce the risk for ovarian cancer. It has been suggested that elective bilateral salpingo-oophorectomy be considered for women older than 40 years, 2-4 whereas surveys in the United Kingdom revealed that 85-90% of physicians recommended bilateral salpingooophorectomy for postmenopausal women coming to hysterectomy. 5,6 However, Parker et al, 7 citing evidence that postmenopausal ovaries secrete androgens important to health, performed a risk-benefit analysis and concluded that ovarian conservation benefits longterm survival for women at "average risk" for ovarian cancer undergoing hysterectomy for benign disease. A subsequent study using observational data from the Nurses' Health Study In addressing the value of bilateral salpingo-oophorectomy, Parker et al distinguished average-risk women from those with known BRCA1 or BRCA2 mutations or a strong family history of breast and ovarian cancer. In the latter group, bilateral salpingooophorectomy may truly be beneficial in reducing risk for both breast and ovarian cancer. 9 Genetic or familial risk factors or both, however, account for a small proportion of ovarian cance...

show abstract

Section: Discussionmentioning

confidence: 99%

Assessing Ovarian Cancer Risk When Considering Elective Oophorectomy at the Time of Hysterectomy

Cramer¹

2011

Obstetrics &Amp; Gynecology

View full text Add to dashboard Cite

show abstract

“…В России, Польше, Венгрии на-иболее частой является мутация 5382 insC в гене BRCA1. Наследственный фактор присутствует у 41 % евреек-ашке-нази, страдающих РЯ, у которых обнаруживается три типа генеративных мутации: BRCA1 185АG, BRCA1 5382insC, BRCA2 6174delT с общей частотой 2,5 % (по сравнению с 0,1-0,3 % в общей популяции женщин [29].…”

Section: злокачественные опухоли Wwwmalignanttumoursorgunclassified

Оптимизация Современных Подходов В Лечении Гинекологического Рака Основных Локализаций

et al. 2017

View full text Add to dashboard Cite

“…26 Mutations in these two genes are also associated with an increased risk for prostate, pancreatic, and colon cancer (National Institutes of Health, http://www.genetests.com, last accessed March 2, 2009). [27][28][29] Three Ashkenazi Jewish founder BRCA mutations, 185delAG and 5382insC (in BRCA1), and 6174delT (in BRCA2), which account for 90% of breast and ovarian cancer in Ashkenazi Jewish patients, were included in this study.…”

Section: Mutation Selectionmentioning

confidence: 99%

Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing

Barker

Bale²,

Booker

et al. 2009

The Journal of Molecular Diagnostics

View full text Add to dashboard Cite

Well-characterized reference materials (RMs) are integral in maintaining clinical laboratory quality assurance for genetic testing. These RMs can be used for quality control , monitoring of test performance, test validation , and proficiency testing of DNA-based genetic tests. To address the need for such materials, the Centers for Disease Control and Prevention established the Genetic Testing Reference Material Coordination Program (GeT-RM), which works with the genetics community to improve public availability of characterized RMs for genetic testing. To date , the GeT-RM program has coordinated the characterization of publicly available genomic DNA RMs for a number of disorders, including cystic fibrosis, Huntington disease, fragile X, and several genetic conditions with relatively high prevalence in the Ashkenazi Jewish population. Genotypic information about a number of other cell lines has been collected and is also available. The present study includes the development and commutability/genotype characterization of 10 DNA samples for clinically relevant mutations or sequence variants in the following genes: MTHFR; SER-PINA1; RET; BRCA1; and BRCA2. DNA samples were analyzed by 19 clinical genetic laboratories using a variety of assays and technology platforms. Concordance was 100% for all samples, with no differences observed between laboratories using different methods. All DNA samples are available from Coriell Cell Repositories and characterization information can be found on the GeT-RM website.

show abstract

Hereditary ovarian cancer in Ashkenazi Jews

Cited by 39 publications

References 68 publications

Assessing Ovarian Cancer Risk When Considering Elective Oophorectomy at the Time of Hysterectomy

Assessing Ovarian Cancer Risk When Considering Elective Oophorectomy at the Time of Hysterectomy

Оптимизация Современных Подходов В Лечении Гинекологического Рака Основных Локализаций

Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing

Contact Info

Product

Resources

About