<i>MSH2</i> Mutation Carriers Are at Higher Risk of Cancer Than <i>MLH1</i> Mutation Carriers: A Study of Hereditary Nonpolyposis Colorectal Cancer Families

Vasen, Hans F. A.; Stormorken, Astrid; Menko, Fred H.; Nagengast, F.M.; Kleibeuker, Jan H.; Griffioen, G.; Taal, Babs G.; Møller, Pål; Wijnen, J. T.

doi:10.1200/jco.2001.19.20.4074

Cited by 351 publications

(292 citation statements)

References 19 publications

(17 reference statements)

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“…1) (Aarnio et al, 1999;Abdel-Rahman et al, 2006;Grover et al, 2009;Hampel et al, 2005;Vasen et al, 2007;Vasen et al, 2001b). This risk varies depending both on the affected MMR gene and on the gene loci involved (Plaschke et al, 2004;ten Broeke et al, 2015;Vasen et al, 2001a;Wijnen et al, 2009). To facilitate genetic counselling and clinical practice, an interactive website providing the complete distributions of all cancer types, depending on gene defect, from any age is now available at is available at http://www.lscarisk.org .…”

Section: Lynch Syndromementioning

confidence: 99%

The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing

Ryan

Sheahan

Creavin

et al. 2017

Critical Reviews in Oncology/Hematology

118

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Section: Lynch Syndromementioning

confidence: 99%

The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing

Ryan

Sheahan

Creavin

et al. 2017

Critical Reviews in Oncology/Hematology

118

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“…Most studies estimate the risk of colorectal cancer in families with HNPCC syndrome selected according to Amsterdam criteria without correcting for selection bias [4][5][6][7][8][9] . Estimates in these studies range from 0.68 to 0.82, but these values have been shown to be substantially overestimated 10 .…”

Section: Introductionmentioning

confidence: 99%

Estimating cancer risk in HNPCC by the GRL method

et al. 2007

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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%

“…This phenotypic heterogeneity has been attributed to genetic and allelic heterogeneity and the influence of sex, genetic modifiers and environmental factors [10,13,14,16,18,24,33,37]. Investigations regarding the influence of environmental factors on phenotypic expression in LS mutation carriers have been limited to colorectal cancer risk only, and the cohorts investigated were generally small [10,19,36,37].…”

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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MSH2 Mutation Carriers Are at Higher Risk of Cancer Than MLH1 Mutation Carriers: A Study of Hereditary Nonpolyposis Colorectal Cancer Families

Abstract: Pending large prospective studies, the extension of the current surveillance program in MSH2 mutation carriers with the inclusion of the urinary tract should be considered.

Cited by 351 publications

References 19 publications

The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing

The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing

Estimating cancer risk in HNPCC by the GRL method

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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