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Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.

Publication ,  Journal Article
Finkelman, BS; Rubinstein, WS; Friedman, S; Friebel, TM; Dubitsky, S; Schonberger, NS; Shoretz, R; Singer, CF; Blum, JL; Tung, N; Olopade, OI ...
Published in: J Clin Oncol
April 20, 2012

PURPOSE: Mutations in BRCA1/2 dramatically increase the risk of both breast and ovarian cancers. Three mutations in these genes (185delAG, 5382insC, and 6174delT) occur at high frequency in Ashkenazi Jews. We evaluated how these common Jewish mutations (CJMs) affect cancer risks and risk reduction. METHODS: Our cohort comprised 4,649 women with disease-associated BRCA1/2 mutations from 22 centers in the Prevention and Observation of Surgical End Points Consortium. Of these women, 969 were self-identified Jewish women. Cox proportional hazards models were used to estimate breast and ovarian cancer risks, as well as risk reduction from risk-reducing salpingo-oophorectomy (RRSO), by CJM and self-identified Jewish status. RESULTS: Ninety-one percent of Jewish BRCA1/2-positive women carried a CJM. Jewish women were significantly more likely to undergo RRSO than non-Jewish women (54% v 41%, respectively; odds ratio, 1.87; 95% CI, 1.44 to 2.42). Relative risks of cancer varied by CJM, with the relative risk of breast cancer being significantly lower in 6174delT mutation carriers than in non-CJM BRCA2 carriers (hazard ratio, 0.35; 95% CI, 0.18 to 0.69). No significant difference was seen in cancer risk reduction after RRSO among subgroups. CONCLUSION: Consistent with previous results, risks for breast and ovarian cancer varied by CJM in BRCA1/2 carriers. In particular, 6174delT carriers had a lower risk of breast cancer. This finding requires additional confirmation in larger prospective and population-based cohort studies before being integrated into clinical care.

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Published In

J Clin Oncol

DOI

EISSN

1527-7755

Publication Date

April 20, 2012

Volume

30

Issue

12

Start / End Page

1321 / 1328

Location

United States

Related Subject Headings

  • Risk Reduction Behavior
  • Risk Assessment
  • Proportional Hazards Models
  • Prognosis
  • Prevalence
  • Ovarian Neoplasms
  • Oncology & Carcinogenesis
  • Odds Ratio
  • Middle Aged
  • Jews
 

Citation

APA
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ICMJE
MLA
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Finkelman, B. S., Rubinstein, W. S., Friedman, S., Friebel, T. M., Dubitsky, S., Schonberger, N. S., … Rebbeck, T. R. (2012). Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. J Clin Oncol, 30(12), 1321–1328. https://doi.org/10.1200/JCO.2011.37.8133
Finkelman, Brian S., Wendy S. Rubinstein, Sue Friedman, Tara M. Friebel, Shera Dubitsky, Niecee Singer Schonberger, Rochelle Shoretz, et al. “Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.J Clin Oncol 30, no. 12 (April 20, 2012): 1321–28. https://doi.org/10.1200/JCO.2011.37.8133.
Finkelman BS, Rubinstein WS, Friedman S, Friebel TM, Dubitsky S, Schonberger NS, et al. Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. J Clin Oncol. 2012 Apr 20;30(12):1321–8.
Finkelman, Brian S., et al. “Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.J Clin Oncol, vol. 30, no. 12, Apr. 2012, pp. 1321–28. Pubmed, doi:10.1200/JCO.2011.37.8133.
Finkelman BS, Rubinstein WS, Friedman S, Friebel TM, Dubitsky S, Schonberger NS, Shoretz R, Singer CF, Blum JL, Tung N, Olopade OI, Weitzel JN, Lynch HT, Snyder C, Garber JE, Schildkraut J, Daly MB, Isaacs C, Pichert G, Neuhausen SL, Couch FJ, van’t Veer L, Eeles R, Bancroft E, Evans DG, Ganz PA, Tomlinson GE, Narod SA, Matloff E, Domchek S, Rebbeck TR. Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. J Clin Oncol. 2012 Apr 20;30(12):1321–1328.

Published In

J Clin Oncol

DOI

EISSN

1527-7755

Publication Date

April 20, 2012

Volume

30

Issue

12

Start / End Page

1321 / 1328

Location

United States

Related Subject Headings

  • Risk Reduction Behavior
  • Risk Assessment
  • Proportional Hazards Models
  • Prognosis
  • Prevalence
  • Ovarian Neoplasms
  • Oncology & Carcinogenesis
  • Odds Ratio
  • Middle Aged
  • Jews