The Family Saga Continues

Please Note: In an effort to update this informational and personal Blog on HNPCC also known as Lynch Syndrome, many of the comments have been updated as posts.

Information on Genetic Colon Cancer is changing every day and every day it affects our family in a most profound way. While the name has changed from HNPCC to a more commonly recognized Lynch Syndrome, this is just the tip of the iceberg.

Our 30 year old nephew was recently diagnosed with colon cancer and new questions arose in our family. Especially considering the fact that he is the son of my sister who's genetic testing in 2004 determined that she did not carry the gene mutation for colon cancer known to run in our family.

And so, the journey continues as we continue to advocate for Colon Cancer Awareness and Lynch Syndrome and the effect that it has on the family. More information will continue to be posted on what we are discovering and the current methodologies in screening and testing.

Comments

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.

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

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

HNPCC Info

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