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Carriers of mismatched repair gene mutation at risk for several cancers

Win AK. J Clin Oncol. 2012;doi:10.1200/JCO.2011.39.5590.

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Carriers of a mismatched repair gene mutation carried risks for eight types of cancer that ranged from threefold to 30-fold higher than the general population, according to study results.

The cancer types included colorectal, pancreatic and gastric cancers.

Researchers conducted a prospective cohort study of 446 unaffected carriers of a mismatch repair gene to determine whether carriers and noncarriers from families with the mutation have a higher risk for cancer than the general population. The carriers were compared with 1,029 of their unaffected relatives who did not carry a mutation.

All participants were followed every 5 years at recruitment centers of the Colon Cancer Family Registry. Country-, age-, and sex-specific standardized incidence ratios of cancer for carriers and noncarriers were estimated for comparison of cancer risk with the general population.

Carriers of the mutation were at increased risk for the following cancers:

• Colorectal cancer: SIR=20.48; 95% CI, 11.71-33.27.
• Endometrial cancer: SIR=30.62; 95% CI, 11.24-66.64.
• Ovarian cancer: SIR=18.81; 95% CI, 3.88-54.95.
• Renal cancer: SIR=11.22; 95% CI, 2.31-32.79.
• Pancreatic cancer: SIR=10.68; 95% CI, 2.68-47.7.
• Gastric cancer: SIR=9.78; 95% CI, 1.18- 35.3.
• Urinary bladder cancer: SIR=9.51; 95% CI, 1.15-34.37.
• Female breast cancer: SIR=3.95; 95% CI, 1.59-8.13.

Noncarrier relatives did not demonstrate increased risk for any cancer, including colorectal cancer (SIR=1.02; 95% CI, 0.33-2.39).

“We confirmed that carriers of [a mismatched repair] gene mutation were at increased risk of a wide variety of cancers, including some cancers not previously recognized as being a result of [mismatched repair] mutations, and found no evidence of an increased risk of cancer for their noncarrier relatives,” the researchers concluded.