New Genetic Testing Guidelines For Colorectal Cancer

copied from the sloan-ketterington hospital page

December 26, 2013:

Important Information for Those Who Have Had Colon Cancer Testing prior to November 2004 If you underwent genetic testing for colorectal cancer prior to November 2004, and the results were negative, you may wish to consider undergoing new tests that have become available since then.For genetic testing of the MLH1, MSH2, and APC genes, a test called Southern blot is now available that looks for gene changes in which large portions of a gene may be missing or rearranged. There is a possibility that your previous genetic tests may not have detected such mutations, if they are present.In addition, three genes that predispose to colorectal cancer – PMS2, MSH6, and MUTYH – have been identified in recent years, and new genetic tests are available to test for mutations in these genes.

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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

Get the Facts About Genetic Colon Cancer

Get the Facts: http://genefacts.org Lynch syndrome is a cancer predisposition syndrome caused by inherited mutations in genes responsible for correcting DNA replication errors. Individuals with Lynch syndrome have a greatly increased risk for colorectal, endometrial, and stomach cancers, and a moderately increased risk for other cancers. Key Points 1-3% of colon cancers attributable to Lynch syndrome Dominant inheritance with reduced penetrance (not all patients with mutations will manifest disease) Diagnosis based on clinical and family history, tumor pathology and/or genetic testing Screening and prophylactic surgeries effective in reducing some, but not all cancer risks Mutations in any of several genes can cause the syndrome

HNPCC Info

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