Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome

Win, Aung Ko, Lindor, Noralane M., Winship, Ingrid, Tucker, Katherine M., Buchanan, Daniel D., Young, Joanne P., Rosty, Christophe, Leggett, Barbara, Giles, Graham G., Goldblatt, Jack, Macrae, Finlay A., Parry, Susan, Kalady, Matthew F., Baron, John A., Ahnen, Dennis J., Le Marchand, Loic, Gallinger, Steven, Haile, Robert W., Newcomb, Polly A., Hopper, John L. and Jenkins, Mark A. (2013) Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome. Journal of the National Cancer Institute, 105 4: 274-279. doi:10.1093/jnci/djs525

Author Win, Aung Ko
Lindor, Noralane M.
Winship, Ingrid
Tucker, Katherine M.
Buchanan, Daniel D.
Young, Joanne P.
Rosty, Christophe
Leggett, Barbara
Giles, Graham G.
Goldblatt, Jack
Macrae, Finlay A.
Parry, Susan
Kalady, Matthew F.
Baron, John A.
Ahnen, Dennis J.
Le Marchand, Loic
Gallinger, Steven
Haile, Robert W.
Newcomb, Polly A.
Hopper, John L.
Jenkins, Mark A.
Title Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome
Journal name Journal of the National Cancer Institute   Check publisher's open access policy
ISSN 0027-8874
Publication date 2013-02
Sub-type Article (original research)
DOI 10.1093/jnci/djs525
Open Access Status
Volume 105
Issue 4
Start page 274
End page 279
Total pages 6
Place of publication Oxford, United Kingdom
Publisher Oxford University Press
Collection year 2014
Language eng
Formatted abstract
Background: Lynch syndrome is an autosomal dominantly inherited disorder caused by germline mutations in DNA mismatch repair (MMR) genes. Previous studies have shown that MMR gene mutation carriers are at increased risk of colorectal, endometrial, and several other cancers following an initial diagnosis of colorectal cancer. We estimated cancer risks following an endometrial cancer diagnosis for women carrying MMR gene mutations.

Methods: We obtained data from the Colon Cancer Family Registry for a cohort of 127 women who had a diagnosis of endometrial cancer and who carried a mutation in one of four MMR genes (30 carried a mutation in MLH1, 72 in MSH2, 22 in MSH6, and 3 in PMS2). We used the Kaplan-Meier method to estimate 10- and 20-year cumulative risks for each cancer. We estimated the age-, country-, and calendar period-specific standardized incidence ratios (SIRs) for each cancer, compared with the general population.

Results: Following endometrial cancer, women carrying MMR gene mutations had the following 20-year risks of other cancer cancers: colorectal cancer (48%, 95% confidence interval [CI] = 35% to 62%); cancer of the kidney, renal pelvis, or ureter (11%, 95% CI = 3% to 20%); urinary bladder cancer (9%, 95% CI = 2% to 17%); and breast cancer (11%, 95% CI = 4% to 19%). Compared with the general population, these women were at statistically significantly elevated risks of colorectal cancer (SIR = 39.9, 95% CI = 27.2 to 58.3), cancer of the kidney, renal pelvis, or ureter (SIR = 28.3, 95% CI = 11.9 to 48.6), urinary bladder cancer (SIR = 24.3, 95% CI = 8.56 to 42.9), and breast cancer (SIR = 2.51, 95% CI = 1.17 to 4.14).

Conclusions: Women with Lynch syndrome who are diagnosed with endometrial cancer have increased risks of several cancers, including breast cancer.
Keyword Lynch syndrome
DNA mismatch repair (MMR)
Colorectal Cancer
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
School of Medicine Publications
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 35 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 43 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Sun, 24 Mar 2013, 00:22:27 EST by System User on behalf of School of Medicine