July 9, 2013

Screening for Hereditary Cancers

By Center for Individualized Medicine

Hereditary Cancer


Looking back at Angelina Jolie's very public announcement of her elective double mastectomy, we feel that now is a good time to remember the many other types of hereditary cancers, some of which are very preventable with early detection and intervention.

Hereditary cancer types, such as Lynch syndrome and hereditary colon cancer are cases in point. Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases a person's risk of colorectal cancers. Due to it being an inherited genetic disorder, it also can have wider-reaching implications for screening and prevention among families. To a lesser extent, it also increases risk for cancers of the endometrium, ovaries, pancreas and bile duct. Although prevalence of Lynch syndrome is relatively low, approximately 3,500 to 7,000 cancer diagnoses in the United States are caused by Lynch syndrome. Lynch syndrome is caused by changes to any of four genes that help the body regulate the natural process of DNA replication.

Studies show screening for Lynch can save lives, and helps inform family members who may want to also be screened. "As of today, 1 percent of hospitals — 57 of 5,724 — are listed as routinely screening for Lynch syndrome," says Douglas Riegert-Johnson, M.D., a medical geneticist at Mayo Clinic Florida. "Despite an important 2005 study supporting screening, it has been slow to catch on." A study published in the April 2012 issue of the Journal of Clinical Oncology found that only 42 percent of all responding centers reported conducting any routine Lynch syndrome screening and fewer than three-quarters of comprehensive cancer centers did.


Tags: angelina jolie, cancer, colon cancer, gene sequencing, genome, genomics, hereditary, hereditary cancer, individualized medicine, lynch syndrome, personalized medicine, Uncategorized

I am a patient at Mayo. I was found to have the CHEC2 Gene which causes double breast Cancer, Thyroid, and colorectal Cancer. My sister had double breast and Thyroid cancer. I had Thyroid Cancer and opted to have prophylactic bilateral
Mastectomies. I also have colonoscopies every few years because of polyps. I have wanted to get more involved after recuperating
In making sure that the CHEK2 Gene Mutation is recognized and covered by insurance for prevention. When I was diognosed in July 2015, I was told that they only had 8 patients with this Mutation. Out of 10 family members tested 8 of us were positive. Myself and 3 sisters and 4 children. I have many more family members that have not been tested because of cost or just not wanting to know. I am very concerned about my two Sons that tested positive as they have been getting colonoscopies starting in their early
20’s. My older son that is positive has two teen age daughters, and their mother had HER2 Breast Cancer in 2015. So they have both father and mother with the breast cancer gene. My whole point is that I feel CHEK2 is allot more common among Breast Cancer patients, but are not tested for that gene. I hope that Medicare and insurance Companies will soon recognize that prevention cost allot less than having the cancer.

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