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

Stupart, Douglas; Goldberg, P. A.; Algar, Ursula; Ramesar, Raj

doi:10.1111/j.1463-1318.2008.01702.x

Cited by 88 publications

(83 citation statements)

References 17 publications

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“…10 Colonoscopic surveillance in individuals with LS at a young age has been reported to decrease the incidence of CRC. 11 Surveillance in CRC MMR mutation carriers saves the health care system a considerable financial cost. 12 Thus, it is imperative to identify patients with LS and their family members who carry a MMR gene mutation in Saudi Arabia.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Lynch syndrome in a Middle Eastern population with colorectal cancer

Siraj

Prabhakaran

Bavi

et al. 2015

Cancer

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BACKGROUND: Lynch syndrome (LS; hereditary nonpolyposis colorectal cancer) is a common cause of hereditary colorectal cancer (CRC). CRC is the most common cancer diagnosed among males in Saudi Arabia but to the authors' knowledge there is a lack of data regarding the prevalence of LS in patients with CRC. There currently are no clear guidelines for the selection criteria for these patients to screen for LS. METHODS: A comprehensive molecular characterization was performed in a cohort of 807 CRC cases by immunohistochemical and microsatellite analysis using polymerase chain reaction. BRAF mutation screening, high CpG island methylator phenotype, and analysis for germline mutations were performed in 425 CRC samples. These were all high microsatellite instability (MSI-H) samples (91 cases), all low MSI samples (143 cases), and selected cases from the microsatellite stable group (191 cases) that met revised Bethesda guidelines. RESULTS: Polymerase chain reaction identified 91 MSI-H cases (11.3%) and sequencing revealed mismatch repair germline mutations in 8 CRC cases only. Of the total of 807 CRC cases, these 8 cases (0.99%) were MSI-H, met the revised Bethesda guidelines, and did not harbor BRAF mutations. CONCLUSIONS: The results of the current study confirmed cases of LS in approximately 1.0% of CRC samples and reflects the efficacy of screening among MSI-H cases that lack BRAF mutations. This comprehensive study from Saudi Arabia will help in implementing a universal screening/reflex testing strategy in a clinical setting in Saudi Arabia and in conducting a national screening program that benefits both patients and their relatives. Cancer 2015;121:1762-71.

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Section: Introductionmentioning

confidence: 99%

Prevalence of Lynch syndrome in a Middle Eastern population with colorectal cancer

Siraj

Prabhakaran

Bavi

et al. 2015

Cancer

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“…Performing a colonoscopy every 3 years has reduced the CRCrelated mortality over 50% [16]. This reduction is estimated to be higher when performing colonoscopies every 1-2 years.…”

Section: Clinical Managementmentioning

confidence: 99%

Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome)

Calpena¹

2011

J Gastrointest Digest Sys

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Colorectal cancer (CRC) is the 3rd leading cause of cancer-related death in Western countries. Between 3-8% of CRC appear as hereditary forms, being the Lynch syndrome (hereditary nonpolyposis colorectal cancer) the most frequent one.The main features of Lynch syndrome are the presentation at young ages (mean 45 years), the preferent arisal in right colon (70% of the cases), the high incidence of synchronic (10%) and metachronic (30-50%) colorectal tumors, and the association with extra colonic neoplasms (mainly adenocarcinomas in endometrium, small bowel, ovarium, stomach, ureter and bladder).Clinical diagnosis is suspected because of the familial history and it is confirmed when identifying germline mutations in the DNA repair genes (mainly MLH1 and MSH2). These mutations determine a genomic instability state known as microsatellites instability, present in over 85% of tumours belonging to the Lynch syndrome and 10-15% of sporadic neoplasms.Identification of mutations and determination of microsatellites instability imply molecular technology, expensive and with limited availability. The immunohistochemical analysis of expression of mostly affected proteins (MLH1 and MSH2) can be an interesting option.

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“…In South Africa, a relatively large 'homogeneous' cohort predisposed to LS has been described previously, consisting of 15 families carrying the hMLH1 c.C1528T mutation [26,30,31]. Prior research in this cohort has investigated the occurrence of extracolonic cancers and the influence of modifier genetic factors on age of cancer onset and cancer diagnosis [3,13].…”

Section: Introductionmentioning

confidence: 99%

Lynch syndrome: the influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters

et al. 2010

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Lynch Syndrome (LS) is a cancer susceptibility syndrome caused mostly by mutations in the mismatch repair genes, hMLH1, hMSH2 and hMSH6. Mutation carriers are at risk of colorectal and endometrial cancer and, less frequently, cancer of the ovaries, stomach, small bowel, hepatobiliary tract, ureter, renal pelvis and brain. The influence of environmental factors on extracolonic cancer risk in LS patients has not been investigated thus far. The aim of this study was to investigate some of these factors in South African females carrying the hMLH1 c.C1528T mutation and their mutation-negative relatives. Data were collected from 87 mutation-positive females and 121 mutation-negative female relatives regarding age, cancer history, hormonal contraceptive use, parity, duration of breast feeding, height, weight and age at first birth, last birth, menarche and menopause. Influence of these factors on cancer risk was analysed by mixed-effects generalised linear models. Extracolonic cancer occurred in 14% (12/ 87) of mutation-positive females versus 7% (8/121) of mutation-negative females, (P = 0.0279, adjusted for age and relatedness between women). Breast cancer was the most common extracolonic cancer. An association was found for oral contraceptive use and extracolonic cancer risk in mutation-negative females only. No association was found for any of the other risk factors investigated, when adjusted for age. This might be due to the scarcity of extracolonic cancers in our data. Future knowledge on the influence of additional environmental factors on cancer risk in LS females can lead to evidence-based lifestyle advice for mutation carriers, thereby complementing the prevention strategies available today. In addition, it can contribute to an integrated model of cancer aetiology. Therefore, this study should be taken as a thrust for further research.

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

Abstract: Surveillance colonoscopy was associated with improved overall and colorectal cancer-related survival in subjects carrying a single mismatch repair gene mutation.

Cited by 88 publications

References 17 publications

Prevalence of Lynch syndrome in a Middle Eastern population with colorectal cancer

Prevalence of Lynch syndrome in a Middle Eastern population with colorectal cancer

Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome)

Lynch syndrome: the influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters

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