Frequency of the Amsterdam Criteria in a Regional German Cohort of Patients with Colorectal Cancer

Raedle, Jochen; Schaffner, M; Esser, N.; Sahm, Stephan; Kriener, Susanne; Brieger, Angela; Nier, H; Bockhorn, H.; Berg, P L; Frick, Barbara; Schäfer, Dieter; Zeuzem, S.

doi:10.1055/s-2002-33419

Cited by 5 publications

(3 citation statements)

References 20 publications

(25 reference statements)

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“…The burden of hereditary colorectal cancer corresponds to the wide published spectrum of 1 - 13% but is lower than average estimates 5 - 6% [24]. As expected, it exceeds the described proportion of families corresponding to Amsterdam criteria [25] although similar proportions have also been reported [26]. The burden of hereditary gastric cancer is higher than estimated by Cisco et al [27].…”

Section: Discussionsupporting

confidence: 59%

Population screening for hereditary and familial cancer syndromes in Valka district of Latvia

Vanags

Štrumfa

Gardovskis

et al. 2010

Hered Cancer Clin Pract

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BackgroundThe growing possibilities of cancer prevention and treatment as well as the increasing knowledge about hereditary cancers require proper identification of the persons at risk. The aim of this study was to test the outcome of population screening in the scientific and practical evaluation of hereditary cancer.MethodsPopulation screening for hereditary cancer was carried out retrospectively in a geographic area of Latvia. Family cancer histories were collected from 18642 adults representing 76.6% of the population of this area. Hereditary cancer syndromes were diagnosed clinically. Molecular testing for BRCA1 founder mutations 300 T/G, 4153delA and 5382insC was conducted in 588 persons who reported at least one case of breast or ovary cancer among blood relatives.ResultsClinically, 74 (0.40%; 95% confidence interval (CI): 0.32 - 0.50%) high-risk and 548 (2.94%, 95% CI: 2.71 - 3.19) moderate-risk hereditary cancer syndromes were detected covering wide cancer spectrum. All syndromes were characterised by high cancer frequency among blood relatives ranging 8.6 - 46.2% in contrast to spouse correlation of 2.5 - 3.6%. The mean age of cancer onset ranged 38.0 - 72.0 years in different syndromes. The BRCA1 gene mutations were identified in 10 (1.7%; 95% CI: 0.9 - 3.1%) probands. Families with established BRCA1 gene founder mutations were identified with the frequency 1:2663 clinically screened persons.ConclusionsPopulation screening is a useful practical tool for the identification of persons belonging to families with high frequency of malignant tumours. The whole hereditary and familial cancer spectrum along with the age structure was identified adjusting follow-up guidelines. Another benefit of the population screening is the possibility to identify oncologically healthy persons belonging to hereditary and familial cancer families so that appropriate surveillance can be offered. Clinical diagnostics is appropriate for population screening purposes; molecular investigation provides additional information. In collaboration with family doctors, the screening is technically manageable as characterised by high compliance.

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Section: Discussionsupporting

confidence: 59%

Population screening for hereditary and familial cancer syndromes in Valka district of Latvia

Vanags

Štrumfa

Gardovskis

et al. 2010

Hered Cancer Clin Pract

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“…Among the eight index patients whose tumors had lost MLH1 expression, two (25%) were found to carry large genomic rearrangements in the MLH1 gene. In view of the late age at diagnosis (z68 years), as well as an inconspicuous family history in four of the MLH1 mutation-negative patients, it is likely that these cancers are actually sporadic in origin, due to hypermethylation of the MLH1 promoter rather than due to an inherited germ line mutation (17). With mRNA available for further study, the consequence of the MLH1 deletion encompassing exons 7 to 9 ( family 1806) could be assessed.…”

Section: Resultsmentioning

confidence: 99%

Gene Conversion Is a Frequent Mechanism of Inactivation of the Wild-Type Allele in Cancers from MLH1/MSH2 Deletion Carriers

et al. 2006

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Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited cancer predisposition syndrome caused by germ line mutations in DNA mismatch repair genes, predominantly MLH1 and MSH2, with large genomic rearrangements accounting for 5% to 20% of all mutations. Although crucial to the understanding of cancer initiation, little is known about the second, somatic hit in HNPCC tumorigenesis, commonly referred to as loss of heterozygosity.Here, we applied a recently developed method, multiplex ligation-dependent probe amplification, to study MLH1/MSH2 copy number changes in 16 unrelated Swiss HNPCC patients, whose cancers displayed microsatellite instability and loss of MLH1 or MSH2 expression, but in whom no germ line mutation could be detected by conventional screening. The aims of the study were (a) to determine the proportion of large genomic rearrangements among Swiss MLH1/MSH2 mutation carriers and (b) to investigate the frequency and nature of loss of heterozygosity as a second, somatic event, in tumors from MLH1/MSH2 germ line deletion carriers. Large genomic deletions were found to account for 4.3% and 10.7% of MLH1 and MSH2 mutations, respectively. Multiplex ligation-dependent probe amplification analysis of 18 cancer specimens from two independent sets of Swiss and Finnish MLH1/MSH2 deletion carriers revealed that somatic mutations identical to the ones in the germ line occur frequently in colorectal cancers (6 of 11; 55%) and are also present in extracolonic HNPCC-associated tumors. Chromosome-specific marker analysis implies that loss of the wild-type allele predominantly occurs through locus-restricted recombinational events, i.e., gene conversion, rather than mitotic recombination or deletion of the respective gene locus. (Cancer Res 2006; 66(2): 659-64)

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“…Dr. Andrew N. Freedman (Division of Cancer Control and Population Sciences, NCI, Bethesda, MD) conducted a literature search and found 10 population-based colorectal cancer studies (32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42) that examined clinical and family history and prevalence of HNPCC. Despite the fact that these studies were conducted in different populations and with different sample sizes, age structures, and ascertainment methods, similar prevalence estimates were found for HNPCC across all studies.…”

Section: Best Strategies For Identifying Individuals With Mlh1 or Msh2 Gene Mutationsmentioning

confidence: 99%

Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability

Umar¹,

Boland²,

Terdiman³

et al. 2004

JNCI Journal of the National Cancer Institute

2,753

2,086

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Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, neoplastic lesions, and microsatellite instability (MSI). Because cancers with MSI account for approximately 15% of all colorectal cancers and because of the need for a better understanding of the clinical and histologic manifestations of HNPCC, the National Cancer Institute hosted an international workshop on HNPCC in 1996, which led to the development of the Bethesda Guidelines for the identification of individuals with HNPCC who should be tested for MSI. To consider revision and improvement of the Bethesda Guidelines, another HNPCC workshop was held at the National Cancer Institute in Bethesda, MD, in 2002. In this commentary, we summarize the Workshop presentations on HNPCC and MSI testing; present the issues relating to the performance, sensitivity, and specificity of the Bethesda Guidelines; outline the revised Bethesda Guidelines for identifying individuals at risk for HNPCC; and recommend criteria for MSI testing.

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Frequency of the Amsterdam Criteria in a Regional German Cohort of Patients with Colorectal Cancer

Cited by 5 publications

References 20 publications

Population screening for hereditary and familial cancer syndromes in Valka district of Latvia

Population screening for hereditary and familial cancer syndromes in Valka district of Latvia

Gene Conversion Is a Frequent Mechanism of Inactivation of the Wild-Type Allele in Cancers from MLH1/MSH2 Deletion Carriers

Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability

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