#MiddleburyCT #LynchSyndrome
DEAR DR. ROACH: I am a healthy 55-year-old woman who eats well and exercises (with both weights and cardio) six to seven times per week. Four years ago, I was diagnosed with Lynch syndrome. (I have the “MLH1” genotype.) My primary care physician suggested testing after my sister died of cancer at the age of 48. (Doctors were never able to determine if she had breast or lung cancer because of the location of the cancer.) All of my siblings (four of us) have been tested, and each of us has it. Two of my nieces have also tested positive for it.
I have three adult children of my own, and my doctor told me that at least one of them will have it. Of my three children, only one has been tested, and she tested positive for it. Since my diagnosis, I have been receiving regular preventive care such as colonoscopies, endoscopies and mammograms. Other than some polyps that were removed, checked, and free of cancer, all procedures have come back “clear.”
One doctor told me to eat little to no red meat, follow a Mediterranean-style diet, and exercise. Another told me: “Live your life and eat whatever you want. Lynch Syndrome is hereditary. No matter what you do, you’ll either get cancer, or you won’t!”
I feel like I’m getting mixed messages from my doctors. Could you please tell me more information about Lynch syndrome? Does this mean that I will definitely end up getting cancer? Is there preventive care that I should focus on? – G.R.
ANSWER: Lynch syndrome is caused by a mutation in a group of DNA repair genes. Without these repair genes, a person’s DNA is more liable to have errors in it when duplicated, which leads to an increased risk of cancers. People with Lynch syndrome are particularly at risk for colon cancer, but also cancers of the stomach, kidney, bladder and other organs. Women are at a higher risk for endometrial and ovarian cancer, but it remains debated whether breast cancer is a Lynch-associated cancer. Men with Lynch syndrome are at a higher risk for prostate cancer.
Among family members, it is expected that half will inherit the Lynch mutation. Your family has been unlucky. I recommend that your other children get tested soon.
Of the four major genotypes in Lynch syndrome, MLH1 tends to have the highest risk of cancer, and approximately 70% to 80% of women with this genotype will get a Lynch-associated cancer, usually colon or endometrial. The goal is to find and remove these cancers before they can spread.
I strongly disagree with the doctor who suggested that diet isn’t important. When you are at a higher risk for cancer, it’s more important to have the healthiest lifestyle you can. A Mediterranean-style diet, which is high in fruits and vegetables and low in processed foods and meat, is likely to reduce your cancer risk, but it is critically important to continue screening.
A colonoscopy is recommended every one to two years. Many experts perform endometrial biopsies every year, despite ironclad evidence of benefit. Ovarian cancer screening is controversial and of uncertain benefit; some high-risk women have chosen a risk-reducing surgery to remove their ovaries and fallopian tubes. Any symptoms of endometrial or ovarian cancer should be discussed with your physician, who can decide whether to do additional testing.
Dr. Roach regrets he is unable to answer individual questions, but he will incorporate them in the column whenever possible. Readers may email questions to ToYourGoodHealth@med.cornell.edu.
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