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

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