Help
Subscribe


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

 20 January 2018

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

Family history linked to colorectal carcinoma in young patients

Patients with early onset colorectal carcinoma often have an inherited predisposition to the disease are at increased risk of developing second gastrointestinal and extraintestinal malignancies, reports the latest issue of Gut.

News image

fiogf49gjkf04

Colorectal cancer is extremely rare in childhood.

Published case series reporting children and adolescents with colorectal cancer have not focused on the underlying genetic aspects of the tumor or genetic susceptibility of the families.

Dr Durno and colleagues from Ontario examined a cohort of patients with early onset colorectal cancer.

The researchers determined whether a specific genetic predisposition could be elucidated.

Microsatellite instability was found in tumors from 8 of 11 patients
Gut

In particular, the researchers focused on whether DNA mismatch repair gene deficiency which causes hereditary non-polyposis colorectal cancer could be elucidated.

Patients with colorectal cancer 24 years of age were identified from a database at the Familial Gastrointestinal Cancer Registry at Mount Sinai Hospital, Toronto.

The researchers ascertained detailed pedigrees from the proband or parents.

The research team tested tumors for microsatellite instability, a hallmark of hereditary non-polyposis colorectal cancer.

Germline mismatch repair gene mutations MSH2 and MLH1 were sought in some cases and clinical data were obtained by chart audit.

The researchers found that among 1382 probands in the registry, 16 colorectal cancer patients were 24 years or younger at the time of diagnosis.

The team identified microsatellite instability in tumors from 8 of 11 evaluated patients.

Germline mutations in mismatch repair genes were identified in 6 of 12 patients, including 3 with MSH2, 2 with MLH1, and 1 with PMS2.

The researchers reported that 10 of 16 families met the Amsterdam criteria for hereditary non-polyposis colorectal cancer.

Among these, 6 were screened for mismatch repair gene mutations and 3 were found to carry MSH2 or MLH1 germline mutations.

The researchers observed that colorectal cancers were located in the rectum/sigmoid in 9, in the splenic flexure in 2, in hepatic flexure in 3, and in the caecum of 2.

The team noted that 7 out 16 of these young cases developed additional malignancies, including gastrointestinal in 8 and extraintestinal in 4 during follow up.

Dr Durno and team concluded, “Patients with early onset colorectal carcinoma often have an inherited predisposition to the disease.”

“Tumors with high frequency microsatellite instability and germline mutations of mismatch repair genes are sufficiently common in this patient population that they should be considered.”

“However, family histories may not satisfy the stringent Amsterdam criteria for hereditary non-polyposis colorectal cancer.

“Young colorectal cancer patients are at increased risk of developing second gastrointestinal and extraintestinal malignancies. “

Gut 2005: 54: 1146-50
14 July 2005

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

 19 January 2018 
Ileoanal pouch microbiota
 19 January 2018 
Predicting the risk of early surgery in Crohn’s
 19 January 2018 
Lifestyle intervention vs gastric bypass for obesity and diabetes
 18 January 2018 
Sleeve gastrectomy vs Roux-en-Y gastric bypass
 18 January 2018 
Healthcare costs of liver cancer in the USA
 18 January 2018 
High-risk adenomas at colonoscopy
 17 January 2018 
“Weekend effect” in upper GI hemorrhage
 17 January 2018 
Gut dysbiosis and non-antibiotic prescription medications
 17 January 2018 
Reducing surgical infections in high-outlier colorectal unit
 16 January 2018 
Bundle of care in GI cancer surgery
 16 January 2018 
Anxiety about colonoscopy
 16 January 2018 
Thiopurines and colorectal neoplasia in IBD
 15 January 2018 
Risks of death after liver transplants for liver cancer
 15 January 2018 
Recent advances in hepatocellular carcinoma
 15 January 2018 
Ileostomy output using telemedicine
 12 January 2018 
Surveillance protocols after colorectal cancer resection
 12 January 2018 
Biologic therapy by pregnant women with IBD and infant vaccines
 12 January 2018 
Biologic therapies for IBD in the USA
 11 January 2018 
Genetic risk factors in GERD
 11 January 2018 
Predictor of colorectal adenoma
 11 January 2018 
Ectopic pregnancy in IBD 
 10 January 2018 
Fecal immunochemical tests for colorectal cancer screening
 10 January 2018 
Risk factors for advanced NAFLD
 10 January 2018 
Dyspepsia prevalence with gastroesophageal reflux–type symptoms
 09 January 2018 
Screening intervals for people with family histories of colorectal cancer
 09 January 2018 
Financial impact of colorectal cancer
 09 January 2018 
Current practice and future research in autoimmune hepatitis
 08 January 2018 
Reliability of the IBD index
 08 January 2018 
Improving prognosis in patients with primary sclerosing cholangitis
 08 January 2018 
Aprepitant and nausea with gastroparesis
 05 January 2018 
Autoimmune pancreatitis and IBD
 05 January 2018 
Primary nonresponse to infliximab therapy
 05 January 2018 
Anesthesia assistance in outpatient colonoscopy
 04 January 2018 
Dietary polyphenols in the etiology of IBD
 04 January 2018 
Yoga vs low-FODMAP in IBS
 04 January 2018 
Local esophageal food allergen injections in eosinophilic esophagitis
 03 January 2018 
Population health management for IBD
 03 January 2018 
GERD in asthma and COPD
 03 January 2018 
Critical research gaps in colorectal cancer
 22 December 2017 
Costs of extrahepatic manifestations of Hep C
 22 December 2017 
Cholera vaccine and risk of death in colorectal cancer
 22 December 2017 
Colonoscopy after colorectal cancer resection
 21 December 2017 
Human oral microbiome and pancreatic cancer risk
 21 December 2017 
Health management for IBD
 21 December 2017 
PPI and Alzheimer's disease
 20 December 2017 
Management of abnormal liver blood tests
 20 December 2017 
Incidence of biopsy-verified celiac disease
 20 December 2017 
Osteoporotic fractures in Barrett's esophagus
 19 December 2017 
Alcohol abstinence and alcoholic hepatitis
 19 December 2017 
Family burden of pediatric Crohn's in the USA
 19 December 2017 
Early readmission in IBD patients
 18 December 2017 
Colorectal cancer mortality with low-risk adenomas at colonoscopy
 18 December 2017 
Disease activity indices in celiac disease
 18 December 2017 
Smoking behaviour predicted the risk of surgery in Crohn's
 15 December 2017 
Molecular classification of Crohn's disease
 15 December 2017 
Medical cannabinoid legalization policy and vomiting
 15 December 2017 
Inflammatory diet pattern and colorectal cancer risk
 14 December 2017 
PPIs and gastric cancer after H.pylori eradication
 14 December 2017 
H. pylori eradication therapies in countries with clarithromycin resistance
 13 December 2017 
Disease severity in NAFLD

Blackwell Publishing


GastroHep.com is a Blackwell Publishing registered trademark
© 2018 Wiley-Blackwell and GastroHep.com and contributors
Privacy Statement
Disclaimer
About Us