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

This is my one thing I can do to prevent one person from a bad outcome

My one thing is to get the message out to people who say colon cancer runs in my family....if so you need to follow through with your doctor or genetic clinic to be evaluated for hereditary colon cancer. http://www.nursingtimes.net/forums-blogs-ideas-debate/nursing-blogs/all-nurses-need-to-make-one-change-to-improve-patient-safety/5005181.article?referrer=RSS All nurses need to make one change to improve patient safety 14 August, 2009 By Suzette Woodward Suzette Woodward on how to implement just one change to aid patient safety On 3 July the health select committee published the findings of its review into patient safety over the past nine months. While this could be seen as just another report on the subject it sharply reminds us of the things we still need to do to ensure the safety of patients in the NHS. For those of us who work in this field it is an opportunity to raise the profile of patient safety and a reminder of the daunting journey we still have to make. Someone reminded m...

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