In a resource-poor country, mutation identification has the potential to reduce the cost of family management for hereditary nonpolyposis colorectal cancer

Goldberg, P. A.; Madden, Michael; Harocopos, C; Felix, Rebecca; Westbrook, Carol A.; Ramesar, Raj

doi:10.1007/bf02258223

Cited by 14 publications

(11 citation statements)

References 10 publications

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“…Seven subjects (5%) in the surveillance group and six (12%) in the nonsurveillance group were lost to follow up, so the follow-up rates in the two groups were similar (P = 0.22). During this period, the surveillance group underwent a median of three colonoscopies (range [1][2][3][4][5][6][7][8][9][10][11][12].…”

Section: Resultsmentioning

confidence: 99%

Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation

et al. 2009

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Section: Resultsmentioning

confidence: 99%

Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation

et al. 2009

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“…Prophylactic surgery instead of regular surveillance has been considered justified in certain circumstances, such as when it has proved impossible to arrange regular surveillance [38]. The factors favouring prophylactic surgery include, for example difficult or impossible endoscopy and repeatedly occurring adenoma.…”

Section: Prophylactic Surgerymentioning

confidence: 99%

Surveillance in Lynch Syndrome

Mecklin∥

Järvinen

2005

Familial Cancer

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The major aim of surveillance in Lynch syndrome is to diagnose malignant or premalignant lesions at the asymptomatic stage by regular checkups, particularly in the large bowel. Therefore, screening for colorectal adenomas and carcinomas by regular colonoscopies is the main topic of the present review. However, it should be remembered, that primary prevention - whether through the use of chemoprevention or the promotion of a healthy life-style may form a significant part of such surveillance in the future. Observational studies indicate that the adenoma carcinoma sequence is the main pathway in the development of colorectal cancer in Lynch syndrome. A colonoscopy every 1-3 years starting at age 20 to 25 years and the removal of observed adenomas is recommended for individuals known to have Lynch syndrome associated mutations. The incidence of colorectal cancer in family branches screened this way is lower than that in past unscreened generations. The screening of other malignancies associated with Lynch syndrome is more complex. Screening for endometrial cancer has recommended previously, but no benefits have been shown in recent studies. The value of screening for other extracolonic cancers remains also uncertain.

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“…We have detected thirteen different mutations in the MLH1 and MSH2 mismatch repair genes in 33 families. The most prevalent of these is the C1528T (Exon 13) mutation in the MLH1 gene [2,3], which has not been identified outside South Africa.…”

Section: Introductionmentioning

confidence: 99%

Cancer risk in a cohort of subjects carrying a single mismatch repair gene mutation

et al. 2009

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Hereditary non-polyposis colon cancer (HNPCC) is an autosomal dominant condition, caused by germline mutations in the mismatch repair genes, that presents with colorectal cancers at a young age, as well as extracolonic tumours. One of the causative mutations is the C1528T (Exon 13) mutation of the MLH1 gene. The purpose of this study is to document the cancer risk for subjects who carry this mutation. This is a prospective cohort study of 200 subjects who carry this mutation. We calculated the risk of developing colorectal cancer only in those subjects who had not undergone surveillance colonoscopy. The incidence of extracolonic cancers (for which surveillance is not routinely offered) was determined for the entire cohort. The results of the study are among the 71 subjects who did not undergo surveillance colonoscopy, colorectal cancers occurred in 36 (51%). They occurred at a median age of 44 years (range 17-73). Using Kaplan-Meier estimates, the risk of developing a colorectal cancer by age 65 was 92%. Eighteen subjects in the cohort of 200 were diagnosed with extracolonic tumours. The most common extracolonic malignancies were breast (6/98 women) and endometrial (3/98 women). Thus this mutation has a high penetrance for colorectal cancer, but is not associated with a high risk of developing extracolonic malignancies.

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In a resource-poor country, mutation identification has the potential to reduce the cost of family management for hereditary nonpolyposis colorectal cancer

Cited by 14 publications

References 10 publications

Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation

Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation

Surveillance in Lynch Syndrome

Cancer risk in a cohort of subjects carrying a single mismatch repair gene mutation

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