Some Cases of HNPCC Due to Alterations in Mismatch Repair Gene

1994:

N Papadopoulos et al.
Science 263 (5153), 1625-9 (18 Mar 1994)
info:pmid/8128251

Some cases of hereditary nonpolyposis colorectal cancer (HNPCC) are due to alterations in a mutS-related mismatch repair gene. A search of a large database of expressed sequence tags derived from random complementary DNA clones revealed three additional human mismatch repair genes, all related to the bacterial mutL gene. One of these genes (hMLH1) resides on chromosome 3p21, within 1 centimorgan of markers previously linked to cancer susceptibility in HNPCC kindreds. Mutations of hMLH1 that would disrupt the gene product were identified in such kindreds, demonstrating that this gene is responsible for the disease. These results suggest that defects in any of several mismatch repair genes can cause HNPCC.

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Cancer Survivors

Just read a story about one woman's cancer experience. I bet everyone has a story about what goes through your mind when you are told you have cancer. Her thought were about her stunned family members, one crying and the other in shock. I bet there are quite a few stories that could be qualitatively studied. Those experiences could help nurses better help patients during this time.

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer

Key Points Question What is the frequency and spectrum of cancer susceptibility gene mutations among patients with colorectal cancer diagnosed at younger than 50 years? Findings In this cohort study of 450 patients with early-onset colorectal cancer, 72 (16%) had a pathogenic mutation. Panel testing identified mutations in patients that may have otherwise been missed; specifically, 24 of 72 patients (33.3%) who were mutation positive did not meet testing criteria for the gene(s) in which they had a mutation. Meaning Multigene panel testing should be considered for all patients with early-onset colorectal cancer. Read More: Prevalence and Spectrum of Gene Mutations and Colorectal Cancer

Preventative Measures for Carriers

Reducing the Risk of Colon Cancer Here are some of the preventive steps you and your doctor can take if your genetic test indicates a risk of developing an inherited cancer: Increased Surveillance Colonoscopy every one to two years beginning at age 20-25 or 5-10 years before the earliest age of a diagnosed colorectal cancer in your family, whichever comes first. Colonoscopy annually after age 40. Preventive Surgery If colon cancer (or an advanced precancerous polyp) is diagnosed in a patient with HNPCC , a full, rather than partial, colectomy is recommended. In carefully selected people, for example, those not willing or able to undergo periodic screening, preventive colectomy may be an option based on a positive genetic test result for HNPCC. Preventive Drug Therapies for Colorectal Cancer: Different drugs for the prevention of colorectal cancer are currently being researched for individuals with HNPCC. None of these drugs are currently approved by the FDA for this purpose. Increa...

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