High risk of colorectal, endometrial and Lynch syndrome cancers for MSH6 mutation carriers

Dec 22, 2009

People carrying the germ-line MSH6 mutation are at high risk by age 80 years for colorectal and endometrial cancers and any cancer associated with Lynch syndrome, according to a new study published online December 22 in the Journal of the National Cancer Institute.

It is known that mutations in MSH6 account for 10%-20% of Lynch syndrome, which causes colorectal and other cancers, but less is know about the cumulative risks for mutation carriers.

In this study, members of the Family Registry, a National Institutes of Health-funded consortium, and colleagues identified 113 families of MSH6 mutation carriers from five countries who were identified through family cancer clinics and population-based cancer registries. Mutation status, sex, age, and histories of cancer, polypectomy, and were sought from 3,104 of their relatives.

The researchers determined precise estimates of both absolute and relative cancer risks for people who carry the mutation. The estimated cumulative risks to ages 70 and 80 years, respectively, were 22% and 44% for colorectal cancer for men and 10% and 20% for women. For endometrial cancer, risks were 26% and 44% for women. And for any cancer associated with Lynch syndrome, the risks were 24% and 47% for men and 40% and 65% for women. Compared with incidence for the general population, MSH6 mutation carriers had an eight-fold increased incidence of colorectal cancer. who were MSH6 mutation carriers had a 26-fold increased incidence of endometrial cancer and a six-fold increased incidence of other cancers associated with Lynch syndrome.

"These results demonstrate that the elevated risks for cancers in MSH6 mutation carriers differ by sex of the carrier and continue into older age," the authors write.

Explore further: Second-line cetuximab active beyond progression in quadruple wild-type patients with mCRC

Related Stories

Model Predicts Colon Cancer Inheritable Genetic Defects

Sep 27, 2006

Researchers from the Johns Hopkins University and other institutions have developed a new prediction model for genetic defects known as Lynch syndrome, which predisposes families to develop colorectal cancer.

Recommended for you

Spicy treatment the answer to aggressive cancer?

Jul 03, 2015

It has been treasured by food lovers for thousands of years for its rich golden colour, peppery flavour and mustardy aroma…and now turmeric may also have a role in fighting cancer.

Cancer survivors who smoke perceive less risk from tobacco

Jul 02, 2015

Cancer survivors who smoke report fewer negative opinions about smoking, have more barriers to quitting, and are around other smokers more often than survivors who had quit before or after their diagnosis, according to a ...

Melanoma mutation rewires cell metabolism

Jul 02, 2015

A mutation found in most melanomas rewires cancer cells' metabolism, making them dependent on a ketogenesis enzyme, researchers at Winship Cancer Institute of Emory University have discovered.

User comments : 0

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.