Table 3.

Cancer Risks by Gene in Individuals with Lynch Syndrome by Age 70 Years Compared to the General Population

Cancer
Location		General
Population
Risk by Age 74 1		Cancer Risk by Age 70 2, 3
MLH1 MSH2 MSH6 PMS2 EPCAM
FMFMFMF&MF&M
Any20%78%64%77%71%62%28%22%
Colorectum2% 444%53%42%46%20%12%3%75% 5
Endometrium1% 435%46%41%13%12% 5
Ovary0.7%11%17%11%3%
Stomach1%8%16%10%16%2%4%4%
Small bowel<1%
Ureter, kidney<1%3%4%13%16%6%2%
Urinary bladder<1%3%5%7%9%1%4%
Prostate4%7%16%5%5%
Brain<1%2%1%2%4%1%2%
Breast5% 411%13%11%8%

F = female; M = male

1.

Cumulative risk (age: 0-74) for both sexes estimated from worldwide data [Bray et al 2018, Ferlay et al 2018]; see gco​.iarc.fr/today/fact-sheets-cancers for region-specific cancer risks.

2.

Organ-specific cancer risks calculated based on an international multicenter prospective observational study (Prospective Lynch Syndrome Database) using independent test and validation cohorts including 6,350 individuals with class 4 (likely pathogenic) or class 5 (pathogenic) variants and 51,646 follow-up years [Dominguez-Valentin et al 2020]

3.

Data on cancer risks for those with an EPCAM deletion are limited (see Phenotype Correlations by Gene).

4.

Lifetime (birth to death) cumulative cancer risks for colorectal, endometrial, and breast cancers have been estimated to be 4%, 3%, and 13%, respectively, for the US population [Siegel et al 2020].

5.

As of December 2020 there are no data from the Prospective Lynch Syndrome Database for EPCAM. The information included in the table has been obtained from Kempers et al [2011]. The authors observed that risk for CRC is similar to that of MLH1 or MSH2 heterozygotes.

From: Lynch Syndrome

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