Risks of Colorectal and Other Cancers After Endometrial Cancer for Women With Lynch Syndrome
Open Access
- 19 February 2013
- journal article
- research article
- Published by Oxford University Press (OUP) in JNCI Journal of the National Cancer Institute
- Vol. 105 (4), 274-279
- https://doi.org/10.1093/jnci/djs525
Abstract
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. 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. 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). Women with Lynch syndrome who are diagnosed with endometrial cancer have increased risks of several cancers, including breast cancer.Keywords
This publication has 28 references indexed in Scilit:
- Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic casesBreast Cancer Research, 2012
- Colorectal and Other Cancer Risks for Carriers and Noncarriers From Families With a DNA Mismatch Repair Gene Mutation: A Prospective Cohort StudyJournal of Clinical Oncology, 2012
- Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch SyndromeJAMA, 2011
- Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort studyThe Lancet Oncology, 2010
- Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family RegistryClinical Cancer Research, 2010
- Risks of Lynch Syndrome Cancers for MSH6 Mutation CarriersJNCI Journal of the National Cancer Institute, 2010
- The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 MutationsGastroenterology, 2008
- Prediction of Germline Mutations and Cancer Risk in the Lynch SyndromeJAMA, 2006
- Life‐time risk of different cancers in hereditary non‐polyposis colorectal cancer (hnpcc) syndromeInternational Journal of Cancer, 1995
- The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)Diseases of the Colon & Rectum, 1991