Lynch Syndrome Tied to Increased Risk of Breast and Pancreatic Cancers ► NCI Cancer Bulletin for February 21, 2012 - National Cancer Institute

Lynch Syndrome Tied to Increased Risk of Breast and Pancreatic Cancers

The first prospective cohort study of families with Lynch syndrome provides the strongest evidence to date that people with this inherited condition have an increased risk of breast cancer and pancreatic cancer. The study is also the first to show that, within Lynch syndrome families, relatives who lack gene mutations that cause this syndrome have no higher risk of cancer than people in the general population, suggesting that these individuals do not require more intense cancer screening. In addition, the study confirms that affected individuals have an increased risk of several cancers previously thought to be associated with the syndrome. The study results were published February 13 in the Journal of Clinical Oncology.
Lynch syndrome is caused by inherited mutations in one of four DNA mismatch repair (MMR) genes, which are involved in fixing errors in DNA that are made when a cell’s genetic material is copied in preparation for cell division. People with these mutations are known to have a higher-than-normal risk for colorectal cancer and a variety of other cancers, and they are generally diagnosed with these cancers at a younger age (see related article).
But previous studies had yielded inconsistent evidence on the risk of pancreatic cancer and “only weak or circumstantial evidence” of increased breast cancer risk in these individuals, senior study author Dr. Mark Jenkins of the University of Melbourne, Australia, noted in an e-mail message.
Dr. Jenkins, Dr. Aung Ko Win, and their colleagues followed MMR-mutation carriers and their non-carrier relatives from NCI’s Colon Cancer Family Registry to provide estimates of carriers’ future risk for numerous cancers, including breast, colorectal, endometrial, kidney, ovarian, pancreatic, and stomach cancer. They found that carriers had from 4 to 30 times the normal risk, depending on the cancer type.
People with Lynch syndrome are usually advised to undergo colonoscopy at an earlier age and more often than the general population. “Further clarification of the risk of breast cancer for a range of ages is needed to determine the recommended ages for mammographic screening or whether methods such as MRI are warranted for women with Lynch syndrome,” Dr. Jenkins wrote.

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