Screening for hereditary non-polyposis colorectal cancer: A study of 22 kindreds in The Netherlands

Vasen, Hans F. A.; Jager, F.C.A. den Hartog; Menko, Fred H.; Nagengast, Fokko M.

doi:10.1016/0002-9343(89)90296-9

Cited by 140 publications

(63 citation statements)

References 8 publications

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“…The Korean Hereditary HNPCC Registry was established in 1990 (Han et al, 1996), and the Dutch HNPCC registry in 1987 (Vasen et al, 1989). Families suspected of HNPCC were referred to the registries from all parts of both countries.…”

Section: Methodsmentioning

confidence: 99%

Gene-environment interaction in hereditary nonpolyposis colorectal cancer with implications for diagnosis and genetic testing

Park¹,

Park²,

Wijnen

et al. 1999

Int. J. Cancer

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Section: Methodsmentioning

confidence: 99%

Gene-environment interaction in hereditary nonpolyposis colorectal cancer with implications for diagnosis and genetic testing

Park¹,

Park²,

Wijnen

et al. 1999

Int. J. Cancer

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“…The methods used by the HNPCC registry have been reported previously. 15 The 66 identified EC cases were from families found to harbor a germline HNPCC mutation or met the previously defined Amsterdam Criteria II. 16 The cancer diagnosis was verified by medical record or pathology report.…”

Section: Study Groupmentioning

confidence: 99%

Survival analysis of endometrial carcinoma associated with hereditary nonpolyposis colorectal cancer

Boks

Trujillo

Voogd

et al. 2002

Intl Journal of Cancer

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118

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Endometrial carcinoma (EC) is the most common extracolonic tumor associated with hereditary nonpolyposis colorectal cancer (HNPCC). HNPCC increases the risk of EC compared to the general population. Patients with HNPCC have a better prognosis than patients with common sporadic colorectal cancer. It is unknown, however, whether the survival rate of HNPCC-associated EC is higher than that of sporadic EC. The aim of our study was to compare the survival rates of HNPCC-associated EC with sporadic EC. From the registry of the Netherlands Foundation for Hereditary Tumors, 50 patients with HNPCC-associated EC from 46 families harboring a germline mutation or fulfilling the Amsterdam Criteria II were age-and stage-matched with 100 patients with sporadic EC registered in the Eindhoven Cancer Registry in the Netherlands. Survival rates were analyzed. The overall 5-year cumulative survival rates for patients with HNPCC-associated EC was 88% and 82% for patients with sporadic EC (p ‫؍‬ 0.59). In Stages IA, IB and IC, the survival rates of patients with HNPCC-associated EC and sporadic EC were 92% and 91%, respectively (p ‫؍‬ 0.90). In Stages IIIA and IIIC, the survival rates for HNPCC-associated EC and sporadic EC were 72% and 50%, respectively (p ‫؍‬ 0.38). Furthermore, there was no significant difference in the distribution of tumor histologic subtypes in the study and control groups (p ‫؍‬ 0.55). The outcomes in survival in EC in the general population and in women from families with HNPCC do not differ significantly. These results may have important implications in our understanding of EC and the role of early screening. © 2002 Wiley-Liss, Inc. Key words: survival; hereditary nonpolyposis colorectal cancer; endometrial carcinoma; case-control studyEndometrial carcinoma (EC) is the most common genital malignancy in women occurring with a cumulative lifetime risk of approximately 1.5-3%. 1,2 Predominantly a disease of postmenopausal women, EC presents at a median age at diagnosis of 63 years. 3 Risk factors associated with EC include unopposed estrogen use, obesity, late menopause, early menarche, nulliparity, hypertension, diabetes mellitus and hereditary tumor syndromes. 4,5 An estimated 5% of all cases of EC is associated with a hereditary cause. 6 Hereditary nonpolyposis colorectal cancer (HNPCC), an autosomal dominant cancer syndrome, is caused by a germline mutation in DNA mismatch repair (MMR) genes, most frequently in MLH1, MSH2 and MSH6. 7 These mutations predispose to cancer of the colorectum and endometrium, most commonly, and to cancers of various other locations such as the stomach, upper urinary tract, ovaries and small bowel. 8 The cumulative incidence of HNPCC-associated EC is approximately 20% by age 70. 2 Some MMR mutations in female carriers increase the risk of EC to 40 -50%. 9 -12 Improved survival has been reported in HNPCC-associated colorectal cancer (CRC) as compared to sporadic CRC of an equivalent stage. 13 The 5-year cumulative survival rate of CRC associated with MLH1-mutations is 65% in co...

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“…Small pedigrees must be (Fishel et al, 1993; Bronner et al, 1994; Nicolaides et al, 1994; Papadopoulos et al, 1994), phenotypical pedigree analysis remains the primary approach to identifying this syndrome. Using this approdch, various groups have attempted to estimate the frequency of Lynch syndrome and their results indicate that HNPCC accounts for 0.5-6% of all cases of colorectal cancer (Mecklin, 1987;Vasen et al, 1989;Kee and Collins, 1991;Stephenson et al, 1991;Aaltonen et al, 1994). The disparity of these results can be attributed in part to the subtle differences in classification criteria used in these studies, and the need for uniformity (particularly in multicentre studies) led to the establishment, in 1990, of the so-called ' al., 1991b).…”

mentioning

confidence: 99%

“…Using this approdch, various groups have attempted to estimate the frequency of Lynch syndrome and their results indicate that HNPCC accounts for 0.5-6% of all cases of colorectal cancer (Mecklin, 1987;Vasen et al, 1989; Kee and Collins, 1991;Stephenson et al, 1991;Aaltonen et al, 1994). The disparity of these results can be attributed in part to the subtle differences in classification criteria used in these studies, and the need for uniformity (particularly in multicentre studies) led to the establishment, in 1990, of the so-called 'Amsterdam criteria' by the International Collaborative Group on HNPCC (ICG-HNPCC) (Vasen et al, 1991a al., 1991b).…”

mentioning

confidence: 99%

The effect of family size on estimates of the frequency of hereditary non-polyposis colorectal cancer

Percesepe

Anti²,

Roncucci³

et al. 1995

Br J Cancer

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Smnuary Diagnosis of hereditary non-polyposis colorectal cancer (HNPCC) is currently based on phenotypical analysis of an expanded pedigree. Diagnostic guidelines ('Amsterdam criteria') proposed by the International Collaborative Group on HNPCC are often too stringent for use with small families. There is also the possibility of false-positive diagnosis in large pedigrees that may contain chance clusters of tumours. This study was conducted to determine the effect of family size on the probability of diagnosing HNPCC according to the Amsterdam criteria. A total of 1052 patients with colorectal cancer were classified as HNPCC or non-HNPCC according to the Amsterdam criteria. Associations between this diagnosis and the size of the first-degree pedigree were evaluated in logistic regression and linear discriminant analyses. Logistic regression showed a significant association for family size with the Amsterdam-criteria-based HNPCC diagnosis. Linear discriminant analysis showed that HNPCC diagnosis was most likely to occur when first-degree pedigrees contained more than seven relatives. Failure to consider family size in phenotypic diagnosis of HNPCC can lead to both under-and overestimation of the frequency of this disease. Small pedigrees must be (Fishel et al., 1993; Bronner et al., 1994; Nicolaides et al., 1994; Papadopoulos et al., 1994), phenotypical pedigree analysis remains the primary approach to identifying this syndrome. Using this approdch, various groups have attempted to estimate the frequency of Lynch syndrome and their results indicate that HNPCC accounts for 0.5-6% of all cases of colorectal cancer (Mecklin, 1987;Vasen et al., 1989;Kee and Collins, 1991;Stephenson et al., 1991;Aaltonen et al., 1994). The disparity of these results can be attributed in part to the subtle differences in classification criteria used in these studies, and the need for uniformity (particularly in multicentre studies) led to the establishment, in 1990, of the so-called ' al., 1991b). In addition, the probability of finding three cases of colon cancer within the small families that are typical of most Western countnres is fairly limited, and pedigree expansion to second-and third-degree relatives is almost always necessary. However, because of the high incidence of colon tumours, evaluation and verification of expanded pedigree data for all colon cancer patients can represent an enormous amount of work. This approach also requires collaboration by the proband and his/her family and knowledge of distant relatives, which may not be available, particularly in countries in which family ties have become attenuated. On the other hand, when large pedigrees are evaluated there is always a risk of false-positive diagnosis based on chance aggregation of tumours or the effects of common environmental risk factors, such as diet (Khoury et al., 1988).We have, therefore, developed a stepwise approach for identification of families at risk of HNPCC, which involves an initial assessment of the first-degree pedigree for the presence ...

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Screening for hereditary non-polyposis colorectal cancer: A study of 22 kindreds in The Netherlands

Cited by 140 publications

References 8 publications

Gene-environment interaction in hereditary nonpolyposis colorectal cancer with implications for diagnosis and genetic testing

Gene-environment interaction in hereditary nonpolyposis colorectal cancer with implications for diagnosis and genetic testing

Survival analysis of endometrial carcinoma associated with hereditary nonpolyposis colorectal cancer

The effect of family size on estimates of the frequency of hereditary non-polyposis colorectal cancer

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