Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis

Vasen, Hans F. A.; Wijnen, J. T.; Menko, FH; Kleibeuker, JH; Taal, B. G.; Griffioen, G.; Nagengast, F. M.; Meijers-Heijboer, E. H.; Bertario, Lucio; Varesco, Liliana; Ml, Bisgaard; Mohr, Julia; Fodde, Riccardo; Khan, P. Meera

doi:10.1053/gast.1996.v110.pm8612988

Cited by 727 publications

(456 citation statements)

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“…Endometrial cancer is the most common extracolonic cancer found in women with this syndrome. The estimated lifetime risk of endometrial cancer in women with Lynch syndrome is 42% to 60% 43,44 (Class 5) and, unlike spontaneous endometrial cancer, these malignancies often present in the premenopausal years 45 (Class 4).…”

Section: Relationship To Hereditary Nonpolyposis Colonic Cancermentioning

confidence: 99%

Investigation of Women with Postmenopausal Uterine Bleeding: Clinical Practice Recommendations

Munro

2014

TPJ

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Section: Relationship To Hereditary Nonpolyposis Colonic Cancermentioning

confidence: 99%

Investigation of Women with Postmenopausal Uterine Bleeding: Clinical Practice Recommendations

Munro

2014

TPJ

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“…A defective DNA mismatch repair system may also result from somatic mismatch repair gene inactivation, most commonly through epigenetic silencing via methylation of the mlh1pro-moter. [31][32][33][34][35][36] The incidence of all cancers implicated in hnpcc was increased after a carcinoma of the small intestine, and for several of them, notably colorectal, pancreatic and endometrial cancers, the increased risk was mainly after early-onset small intestine cancer. We lack information on genetic alterations of the patients included in our study, but it is likely that only a small proportion of these second primary cancers occurred in hnpcc patients.…”

Section: Tobacco-related Cancersmentioning

confidence: 99%

Associations between small intestine cancer and other primary cancers: An international population‐based study

Scélo

Boffetta

Hemminki

et al. 2005

Intl Journal of Cancer

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Cancer of the small intestine is a rare neoplasm, and its etiology remains poorly understood. Analysis of other primary cancers in individuals with small intestine cancer may help elucidate the causes of this neoplasm and the underlying mechanisms. We included 10,946 cases of first primary small intestine cancer from 13 cancer registries in a pooled analysis. The observed numbers of 44 types of second primary cancer were compared to the expected numbers derived from the age-, gender-and calendar period-specific cancer incidence rates in each registry. We also calculated the standardized incidence ratios (SIR) for small intestine cancer as a second primary after other cancers. There was a 68% overall increase in the risk of a new primary cancer after small intestine carcinoma (SIR 5 1.68, 95% confidence interval [CI] 5 1.47-1.71), that remained constant over time. The overall SIR was 1.18 (95% CI 5 1.05-1.32) after carcinoid, 1.29 (1.01-1.63) after sarcoma, and 1.27 (0.78-1.94) after lymphoma. Significant (p < 0.05) increases were observed for cancers of the oropharynx, colon, rectum, ampulla of Vater, pancreas, corpus uteri, ovary, prostate, kidney, thyroid gland, skin and soft tissue sarcomas. Small intestine cancer as a second primary was increased significantly after all these cancers, except after oropharyngeal and kidney cancers. Although some of the excess may be attributable to overdiagnosis, it is plausible that most additional cases of second primary cancers were clinically relevant and were due to common genetic (e.g., defects in mismatch or other DNA repair pathways) and environmental (e.g., dietary) factors. ' 2005 Wiley-Liss, Inc.Key words: small intestine cancer; second primary cancers; registrybased study Cancer of the small intestine is a rare neoplasm, with an estimated incidence of less than 1/100,000 in most countries, 1 although this may be increasing. 2 The rarity of this malignancy is all the more noteworthy in that the small intestine is situated between the stomach and colon, which are common sites of cancer, and that it constitutes 75% of the length of the alimentary tract and 90% of its mucosal surface area. The 5-year relative survival was 37% among patients diagnosed with small intestine cancer in the period 1990-94 in 22 European countries. 3 Little is known about the etiology of this cancer. Several studies have reported higher risks following Crohn's disease, celiac disease and familial adenomatous polyposis (FAP). 4 Results on tobacco smoking are conflicting: although 2 studies did not report any association, 5,6 2 other studies showed an increased risk of small intestine cancer among smokers. 7,8 Studies of second primary cancers have reported associations with cancers of colon, rectum, and endocrine glands as well as skin melanoma. 9-13 The results, however, were often based on few cases and cannot be considered conclusive.We report the results of a pooled analysis of data from 13 population-based cancer registries on second primary cancers in small intestine cancer patients, wi...

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“…Colorectal and endometrial cancers are the cancer types most frequently reported; mutation carriers are at an estimated lifetime risk of up to 70 and 27-71%, respectively [1,12,23,33,34]. In addition, cancers of the ovaries, stomach, small bowel, hepatobiliary tract, ureter, renal pelvis and brain are part of the HNPCC tumour spectrum [35,38].…”

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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Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis

Cited by 727 publications

References 1 publication

Investigation of Women with Postmenopausal Uterine Bleeding: Clinical Practice Recommendations

Investigation of Women with Postmenopausal Uterine Bleeding: Clinical Practice Recommendations

Associations between small intestine cancer and other primary cancers: An international population‐based study

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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