How prevalent is cancer family syndrome?

Kee, Frank; Collins, Brendan

doi:10.1136/gut.32.5.509

Cited by 76 publications

(18 citation statements)

References 23 publications

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“…The risk of developing colon cancer is 2.5-to 3-fold increased among relatives of those affected [1][2][3]. However, in most families, no hereditary syndrome can be identified [4]. Thus, no genetic tests can be offered to relatives with an increased risk for colon cancer.…”

Section: Introductionmentioning

confidence: 99%

Participation in screening colonoscopy in first-degree relatives from patients with colorectal cancer

et al. 2007

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Background: Current guidelines recommend screening colonoscopy in first-degree relatives of patients with colon cancer. The aim of this state-wide study was to investigate the compliance for colonoscopy in first-degree relatives, who were younger than 60 years of age.Methods: A total of 602 patients were identified from the tumor registry of the public health insurance of Lower Saxony.A questionnaire was sent to these patients, which included a number of different questions regarding their knowledge about the risk of colon cancer for their family members, as well as their participation in screening colonoscopy.Results: Data from 442 patients and their first-degree relatives (1005 siblings and 354 parents) were available; 178 parents had undergone screening colonoscopy and 344 siblings. Interestingly, the percentage of siblings who underwent screening colonoscopy was significantly higher (27%) among those siblings where the index patients were aware of the increased risk for the first-degree relatives, in contrast to the siblings of the index patients who were not aware of this risk (20%). Conclusion:This study demonstrates that only a minority of first-degree relatives undergo screening colonoscopy and that informing patients about the potential risk for their relatives will increase participation in screening colonoscopy in first-degree relatives of the patients.

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Section: Introductionmentioning

confidence: 99%

Participation in screening colonoscopy in first-degree relatives from patients with colorectal cancer

et al. 2007

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“…29,30 It is caused by germline mutations in a number of tumour suppressor genes involved in DNA mismatch repair: the two genes MSH2 and MLH1 account for over 80% of cases. HNPCC confers a risk of colorectal cancer of 80-85% in men and 42-65% in women.…”

Section: Hereditary Non-polyposis Colorectal Cancermentioning

confidence: 99%

Genetic predisposition to cancer

Turnbull

Hodgson

2005

Clinical Medicine

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-Over recent decades a number of genes causing predisposition to cancer have been identified. Some of these cause rare autosomal dominant monogenic cancer predisposition syndromes. In the majority of families, the increased incidence of cancers is due to a multifactorial aetiology with a number of lower penetrance cancer predisposition genes interacting with environmental factors. Identification of those at increased risk of cancer on account of their family history is important, as genetic testing, enhanced surveillance, prophylactic surgery and chemoprophylaxis may be indicated. In this article the issues surrounding genetic predisposition to cancer are considered by examining two common cancers: colorectal and breast cancer.KEY WORDS: breast, cancer, colorectal, genes, genetic, hereditary, inherited, monogenic, predisposition, surveillanceThe hereditary nature of cancer has been well recognised for over 100 years, but the inherited aspects of cancer susceptibility have become more clearly characterised only in the last few decades. Almost half the referrals to genetics centres are now for assessment of cancer susceptibility compared with only a small minority twenty years ago. Studies of familial aspects of cancer have focused on families with:• several individuals affected with a rare cancer, possibly accompanied by other phenotypic abnormalities • characteristic familial constellations of different cancers, or• an excess of specific 'common cancers' , particularly occurring at young ages.Epidemiological studies have shown that the occurrence of a cancer in one family member confers an increased empirical risk of the same or related cancers to relatives, the degree of risk depending on the age at diagnosis and the number of affected relatives on the same side of the family. Linkage studies in families with several close relatives affected with the same cancer type have led to the identification of the genes underlying a number of monogenic syndromes of cancer predisposition. Some of these are predisposition syndromes which confer susceptibility to cancer alone; in other rare inherited multisystem disorders, cancer predisposition is accompanied by a characteristic phenotype, including facial dysmorphism, neurological pathology or other features.Single gene cancer predisposition syndromes are rare and account for only a small proportion of familial clusters of common cancers. More commonly, familial predisposition may be due to the effects of several less penetrant genes interacting with environmental factors. The search is on for these higher frequency, lower penetrance candidate genes for common cancers. As the members of the orchestra of interacting predisposition and protective genetic factors are characterised, the distinction between inherited and sporadic cancers will become a spectrum rather than dichotomous. The evolution and widespread availability of affordable microarray technology may in the future offer the general population accessible individualised risk profiling for many cancer types...

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“…One Finnish study of hMLH1 mutation carriers from HNPCC families suggested that survival was better than population controls 18 and another correlative study of MSH2 and MLH1 HNPCC families from the United States also suggested a survival advantage of carriers compared with population controls. 19 In contrast, studies that have used systematic, population-based ascertainment of colorectal cancer cases followed by assessment of family history have been unable to detect any beneficial effect of cancer arising in either HNPCC 20 or in familial cases in general. 21 One plausible explanation for this apparent discrepancy is that HNPCC families and the respective tumours collected for research purposes are a biased group with respect to survival.…”

mentioning

confidence: 99%

Evidence for an age‐related influence of microsatellite instability on colorectal cancer survival

Farrington

McKinley

Carothers

et al. 2002

Intl Journal of Cancer

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It is well established that microsatellite instability (MSI), the hallmark of defective DNA mismatch repair (MMR), is associated with prolonged survival in colorectal cancer compared with tumours that are microsatellite stable (MSS). MSI in sporadic colorectal tumours is primarily due to epigenetic silencing of MLH1. However, there are no prospective population-based studies of survival in patients with germline MMR gene mutations who develop cancer. Although MSI is almost universal in tumours from HNPCC family members, there is a potential confounding effect of ascertainment and other biases that could explain the apparent survival benefit in HNPCC families. Resolving whether germline MMR gene mutations impact on survival is important because it potentially undermines the rationale for surveillance of mutation carriers. Here, we report an investigation of the influence of MSI on survival in cohorts of cancer patients (aged < 30 years at diagnosis, n ‫؍‬ 118; non-age-selected, n ‫؍‬ 181) in the context of clinicopathologic variables. There was a substantial age-related influence of tumour MSI status on survival. In young patients with tumour MSI, 65% of patients with MSI tumours had germline MSH2 or MLH1 mutations. Clinicopathologic variables and tumour MSI of the cohort were studied with respect to survival and compared with control groups. Young patients had excess MSI tumours (p < 0.000001), mucinous tumours (p < 0.01), advanced disease (p ϳ 0.001) and poorer 5-year survival compared with older cases. Cox proportional hazard analysis identified Dukes' stage, age at diagnosis and calendar year of treatment as independent predictors of survival. There was no detectable association between tumour MSI and survival in young patients, although we confirmed previous observations that MSI is associated with better prognosis in later onset cohorts. These findings underscore the rationale for surveillance and early identification of tumours in MMR gene carriers as well as refining understanding of the influence of MSI on cancer progression.

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How prevalent is cancer family syndrome?

Cited by 76 publications

References 23 publications

Participation in screening colonoscopy in first-degree relatives from patients with colorectal cancer

Participation in screening colonoscopy in first-degree relatives from patients with colorectal cancer

Genetic predisposition to cancer

Evidence for an age‐related influence of microsatellite instability on colorectal cancer survival

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