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Evaluating genetic association among ovarian, breast, and endometrial cancer: evidence for a breast/ovarian cancer relationship.

Publication ,  Journal Article
Schildkraut, JM; Risch, N; Thompson, WD
Published in: Am J Hum Genet
October 1989

The possibility of a genetic relationship between ovarian, breast, and endometrial cancer was investigated in data from a large multicenter, population-based, case-control study, the Cancer and Steroid Hormone Study conducted by the Centers for Disease Control (CDC). Age-adjusted relative risks (RRs) for mothers and sisters of 493 ovarian cancer cases, 895 breast cancer cases, and 143 endometrial cancer cases versus 4,754 controls were calculated. Significantly elevated age-adjusted RRs were found for ovarian cancer (RR = 2.8; 95% confidence interval [CI] = 1.6-4.9) and breast cancer (RR = 1.6; 95% CI = 1.1-2.1) among relatives of ovarian cancer probands and for breast cancer (RR = 2.1; 95% CI = 1.7-2.5) and ovarian cancer (RR = 1.7; 95% CI = 1.0-2.0) among relatives of breast cancer probands. Relatives of endometrial cancer probands had an elevated RR for endometrial cancer only (RR = 2.7; 95% CI = 1.6-4.8). The genetic relationship between ovarian, breast, and endometrial cancer was tested using a multivariate polygenic threshold model developed by Smith (1976), which was modified to accommodate three classes of probands. Estimates of heritability for ovarian, breast, and endometrial cancer were 40%, 56%, and 52%, respectively. There was a significant genetic correlation between ovarian and breast cancer (R12 = .484). Evidence for significant genetic overlap between endometrial cancer and either ovarian or breast cancer was not found. These results suggest the existence of a familial breast/ovarian cancer syndrome. Endometrial cancer, while heritable, appears to be genetically unrelated.

Duke Scholars

Published In

Am J Hum Genet

ISSN

0002-9297

Publication Date

October 1989

Volume

45

Issue

4

Start / End Page

521 / 529

Location

United States

Related Subject Headings

  • Uterine Neoplasms
  • Syndrome
  • Pregnancy
  • Ovarian Neoplasms
  • Models, Statistical
  • Models, Genetic
  • Middle Aged
  • Humans
  • Genetics & Heredity
  • Female
 

Citation

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Chicago
ICMJE
MLA
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Schildkraut, J. M., Risch, N., & Thompson, W. D. (1989). Evaluating genetic association among ovarian, breast, and endometrial cancer: evidence for a breast/ovarian cancer relationship. Am J Hum Genet, 45(4), 521–529.
Schildkraut, J. M., N. Risch, and W. D. Thompson. “Evaluating genetic association among ovarian, breast, and endometrial cancer: evidence for a breast/ovarian cancer relationship.Am J Hum Genet 45, no. 4 (October 1989): 521–29.
Schildkraut, J. M., et al. “Evaluating genetic association among ovarian, breast, and endometrial cancer: evidence for a breast/ovarian cancer relationship.Am J Hum Genet, vol. 45, no. 4, Oct. 1989, pp. 521–29.
Journal cover image

Published In

Am J Hum Genet

ISSN

0002-9297

Publication Date

October 1989

Volume

45

Issue

4

Start / End Page

521 / 529

Location

United States

Related Subject Headings

  • Uterine Neoplasms
  • Syndrome
  • Pregnancy
  • Ovarian Neoplasms
  • Models, Statistical
  • Models, Genetic
  • Middle Aged
  • Humans
  • Genetics & Heredity
  • Female