Help
Subscribe


GastroHep.com - the global online resource for all aspects of gastroenterology, hepatology and endoscopy

 25 November 2017

Advanced search
GastroHep.com - the global online resource for all aspects of gastroenterology, hepatology and endoscopy Profile of Roy Pounder

Home

News  
Journals
Review Articles
Slide Atlas
Video Clips
Online Books
Advanced Digestive Endoscopy
Classical Cases
Conference Diary
PubMed
International GH Links
USA GH Links
National GH Links
National GI Societies
Other Useful Links




Emails on Gastroenterology and Hepatology
the National AIDS Treatment Advocacy Project
Visit the gastroenterology section of the EUMS

News

Model to identify carriers of DNA mutations in colorectal cancer

Researchers reporting in this week's New England Journal of Medicine devised a method of identifying patients with colorectal cancer who are carriers of mutations in DNA repair genes.

News image

fiogf49gjkf04

The identification of mutations in germ-line DNA mismatch-repair genes at the time of diagnosis of colorectal cancer is important its management.

Dr Rebecca Barnetson and colleagues recruited without preselection, and regardless of family history, 870 patients under the age of 55 years.

The patients were recruited soon after they received a diagnosis of colorectal cancer.

The investigative team studied these patients for germ-line mutations in the DNA mismatch-repair genes MLH1, MSH2, and MSH6.

A 2-stage model was developed by multivariate logistic regression for the prediction of the presence of mutations in these genes.

Stage 1 of the model incorporated only clinical variables.

The team reported that stage 2 comprised analysis of the tumor by immunohistochemical staining, and tests for microsatellite instability.

The model was validated in an independent population of patients.

The investigators analyzed 2938 patient-years of follow-up to determine whether genotype influenced survival.

Adding immunohistochemical analysis in the model had a positive predictive value of 80%
New England Journal of Medicine

The team found 38 mutations in the participants.

Of these mutations, 15 were in MLH1, 16 in MSH2, and 7 in MSH6.

The investigators found that carrier frequencies in men and women differed significantly.

The addition of immunohistochemical analysis in stage 2 of the model had a sensitivity of 62%, and a positive predictive value of 80%.

There were 35 mutations in the validation series of 155 patients.

The team noted that 19 of these mutations were in MLH1, 13 in MSH2, and 3 in MSH6.

The performance of the model was robust among a wide range of cutoff probabilities.

The investigators also found that it was superior to that of the Bethesda and Amsterdam criteria for hereditary nonpolyposis colorectal cancer.

Survival among carriers was not significantly different from that among noncarriers.

Dr Barnetson's team commented, “We devised and validated a method of identifying patients with colorectal cancer who are carriers of mutations in DNA repair genes.”

“Survival was similar among carriers and noncarriers.”

NEJM 2006: 354(26): 2751-63
30 June 2006

Go to top of page Email this page Email this page to a colleague

 24 November 2017 
Osteoporotic fractures in Barrett's esophagus
 24 November 2017 
Center ERCP volume and procedure success
 24 November 2017 
Adipokines and IBD
 23 November 2017 
Pharmacological management of GERD
 23 November 2017 
Incidence of biopsy-verified celiac disease
 23 November 2017 
Distance travelling for rectal cancer outcomes
 22 November 2017 
Challenges of US-trained gastroenterologists when abroad
 22 November 2017 
Surgical treatment delays influence survival in colon cancer
 22 November 2017 
Golimumab in Crohn's disease
 21 November 2017 
Preoperative optimization in IBD patients
 21 November 2017 
Cholangiopathy in critically ill patients
 21 November 2017 
Prepregnancy obesity and maternal mortality
 20 November 2017 
Barriers to hepatitis C treatment
 20 November 2017 
Socioeconomic characteristics in diverticular disease
 20 November 2017 
Endoscopic indices of disease activity for Crohn’s
 17 November 2017 
Food elimination diets for treatment of adults with eosinophilic esophagitis
 17 November 2017 
PPI use and cognitive function in women
 17 November 2017 
Predicting microscopic colitis
 16 November 2017 
NAFLD-hepatocellular carcinoma and survival after orthotopic liver transplant
 16 November 2017 
Prepregnancy obesity and severe maternal morbidity
 16 November 2017 
Celiac disease screening in adult first-degree relatives
 15 November 2017 
Breastfeeding and the risk of IBD
 15 November 2017 
Predicting recurrence after curative rectal cancer surgery
 15 November 2017 
Medication nonadherence and health care costs
 14 November 2017 
Eosinophilic gastroenteritis and colitis
 14 November 2017 
HBV/HCV coinfection and cirrhosis
 14 November 2017 
Sexual dysfunction after rectal cancer surgery
 13 November 2017 
Genetic polymorphisms, fatty acids and ulcerative colitis
 13 November 2017 
Flares after immunomodulator withdrawal in Crohn's
 13 November 2017 
GI bleeding in patients taking non–vitamin K antagonist oral anticoagulants
 10 November 2017 
Thiopurines vs TNF and lymphoma risk in IBD
 10 November 2017 
Drug monitoring of anti-tumour necrosis factor therapy in IBD
 10 November 2017 
Treatment decisions for older patients with colorectal cancer
 09 November 2017 
Quality standards in upper gastrointestinal endoscopy
 09 November 2017 
Irradiated rectal cancer and chemoradiotherapy
 09 November 2017 
Environmental factors and IBD
 08 November 2017 
Prophylaxis of spontaneous bacterial peritonitis
 08 November 2017 
Optimal management of postoperative Crohn's disease
 07 November 2017 
Community Screening for Helicobacter pylori
 07 November 2017 
Early readmission in IBD patients
 07 November 2017 
Mesocolic excision for colon cancer
 06 November 2017 
Food elimination diet for children with eosinophilic esophagitis
 06 November 2017 
Biologic agents and obesity in children with IBD
 06 November 2017 
Liver cancer burden despite extensive use of antiviral agents
 03 November 2017 
Statins and mortality in chronic viral hepatitis
 03 November 2017 
Propofol for outpatient colonoscopy
 03 November 2017 
Asthma and IBD development
 02 November 2017 
Diverticulitis and emergency department burden
 02 November 2017 
Rural residence and risk of IBD
 02 November 2017 
Sexual functioning in Hep C
 01 November 2017 
Autoimmune pancreatitis in children
 01 November 2017 
Heartburn relief in adolescents with GERD
 31 October 2017 
Follow-up of positive results on fecal blood tests
 31 October 2017 
Surveillance in ulcerative colitis and Crohn’s disease
 30 October 2017 
Local recurrence after curative rectal cancer surgery
 30 October 2017 
Low-flow ascites pump in refractory cirrhosis
 30 October 2017 
Medical therapy of patients with pediatric-onset IBD
 27 October 2017 
NAFLD in advanced fibrosis in the USA
 27 October 2017 
Early readmission in cirrhosis after bacterial infections
 26 October 2017 
Predicting response to anti-TNF therapy in Crohn's

Blackwell Publishing


GastroHep.com is a Blackwell Publishing registered trademark
© 2017 Wiley-Blackwell and GastroHep.com and contributors
Privacy Statement
Disclaimer
About Us