Evolution of hereditary non-polyposis colorectal cancer.

Jass, Jeremy R.; Stewart, Susan M.

doi:10.1136/gut.33.6.783

Cited by 173 publications

(97 citation statements)

References 25 publications

(1 reference statement)

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“…[23][24][25][26] In this study, gene carriers in HNPCC had an RR of 4.5 compared with the general population of presenting with an adenoma before the age of 54 years. All risk groups combined had an RR of 2.6.…”

Section: A Higher Initiation Rate In All Risk Groupsmentioning

confidence: 96%

Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer

Lindgren

Liljegren²,

Jaramillo³

et al. 2002

Gut

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Background and aims: Polypectomy in the colon has been shown to prevent colorectal cancer in both the general population and in familial colorectal cancer. Individuals with a family history of colorectal cancer have an increased risk of the disease. Over a period of 10 years, 304 subjects at risk were included in ongoing surveillance with regular colonoscopies. To compile the medical findings and experience generated during this period, a retrospective cross sectional study was performed. Subjects: Subjects were classified into three family groups: families with hereditary non-polyposis colorectal cancer (HNPCC); families with hereditary colorectal cancer (HCC, non-Lynch syndrome); and a third group of families with only empirical risk estimates based on a family history of two close relatives (TCR) with colorectal cancer. Methods: The risk population was studied with regard to age at onset, prevalence, number, cancer risk, size, dysplasia, and distribution of adenomas. A comparison was made within the family groups and with a reference group representing the general population. Results: In total, 195 adenomas and six cancers were detected among 85 individuals. The relative risk of having an adenoma in the whole risk population compared with the general population was 2.6. Subjects from TCR families had most adenomas and HNPCC subjects had the least. A shift from proximal adenomas to distal carcinomas in families with HCC and TCR suggested a higher cancer risk in distal adenomas in these syndromes. HNPCC families showed a younger age at onset and adenomas with a higher degree of dysplasia. In HNPCC, there was a similar localisation of adenomas and carcinomas, suggesting a high risk of cancer in all adenomas. Conclusions: There was clear overrepresentation of adenomas in all three family types compared with the reference population. In HNPCC, we found earlier onset of adenomas and faster progression to cancer. Families with HCC, and even more so TCR subjects, had a later onset and lower risk of cancer from proximal adenomas. Based on these results, surveillance protocols in Sweden have been revised.

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Section: A Higher Initiation Rate In All Risk Groupsmentioning

confidence: 96%

Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer

Lindgren

Liljegren²,

Jaramillo³

et al. 2002

Gut

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Section: Hereditary Nonpolyposis Colorectal Cancer (Hnpcc)mentioning

confidence: 99%

“…Adenomas in HNPCC tend to be large and show a villous architecture and high-grade dysplasia. 3 It is possible that the mutator or MSI phenotype characteristic of HNPCC tumors drives the promotion of adenoma to carcinoma.MSI can be seen at an early stage in HNPCC tumors, but usually at later stages in sporadic colorectal tumorigenesis. 4 Adenomas from patients with HNPCC frequently show MSI as opposed to 0 to 3% of apparently sporadic colorectal adenomas.…”

mentioning

confidence: 99%

Microsatellite Instability in Adenomas as a Marker for Hereditary Nonpolyposis Colorectal Cancer

Loukola¹,

Salovaara²,

Kristo³

et al. 1999

The American Journal of Pathology

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Hereditary nonpolyposis colorectal cancer (HNPCC)is the most common of the well-defined colorectal cancer syndromes , accounting for at least 2% of the total colorectal cancer burden and carrying a greater than 80% lifetime risk of cancer. Significant reduction in cancer morbidity and mortality can be accomplished by appropriate clinical cancer screening of HNPCC patients with mutations in mismatch repair (MMR) genes. Thus , it is desirable to identify individuals who are mutation-positive. In individuals with cancer , mutation detection can be accomplished relatively efficiently by germline mutation analysis of individuals whose cancers show microsatellite instability (MSI). This study was designed to assess the feasibility of screening colorectal adenoma patients for HNPCC in the same manner. Among 378 adenoma patients , six (1.6%) had at least one MSI adenoma. Five out of the six patients (83%) had a germline MMR gene mutation. We conclude that MSI analysis is a useful method of prescreening colorectal adenoma patients for HNPCC. (Am J Pathol 1999, 155:1849 -1853) Germline mutations in DNA mismatch repair genes (MLH1, MSH2, PMS1, PMS2, and MSH6) 1 underlie HNPCC. Deficient DNA mismatch repair results in reduced replication fidelity. Cells deficient for both alleles of a mismatch repair gene acquire a mutator phenotype, leading to accumulation of somatic mutations, which can be demonstrated by analyzing microsatellite sequences in the tumor DNA. These sequences display frequent somatic deletions and insertions, often referred to as microsatellite instability (MSI). HNPCC patients form adenomas at a slightly but not strikingly increased rate as compared with the general population 2 (Jä rvinen HJ, Aarnio M, Mustonen H, Aktan-Collan LA, Peltomäki P, de la Chapelle A, Mecklin J-P, submitted). Adenomas in HNPCC tend to be large and show a villous architecture and high-grade dysplasia. 3 It is possible that the mutator or MSI phenotype characteristic of HNPCC tumors drives the promotion of adenoma to carcinoma.MSI can be seen at an early stage in HNPCC tumors, but usually at later stages in sporadic colorectal tumorigenesis. 4 Adenomas from patients with HNPCC frequently show MSI as opposed to 0 to 3% of apparently sporadic colorectal adenomas. 5,6 The frequency of the MSI is 80 to 95% in HNPCC cancers 6 -8 and 10 to 15% in sporadic colorectal cancers. [7][8][9][10] The fact that a considerable proportion of sporadic colorectal cancers displays MSI makes microsatellite analysis a relatively unspecific marker for HNPCC when applied to malignant tumors.

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“…Son yıllarda çe~itli yayınlarda kolorektal karsinom olgularının % ı ile % ıo nun otozornal kahtım sonucu ortaya çıktıkları kabul edilmektedir (1,2,3). Herediter kolorektal karsinamlar dört gruba ayrılırlar: a) ailevi adenomatöz polipozis koli sonucu geli~en kolorektal karsinomlar, b) ailevi kolon kanseri, c) soliter kolon polipleri zemininde geli~en kolorektal karsinomlar, d) herediter nonpolipoid kolorektal karsinemlar (3,4 …”

Section: öZetunclassified

A Family With Hereditary Nonpolipoid Colocteral Carcinoma

Yeğinboy¹,

Büyükerkmen²,

Bayol³

et al. 1995

Tepecik Dergisi

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SUMMARY Hereditary No'npolipoid Colorectal Carcinoma (HNPCC) is tranmissed with antosomal dominant inheritance.In a turkish family, 3 of 5 siblings had colon carcinoma. The development of cancers was in first-degree relatives, the mean age 34 years, predominance of proximal colonic cancer without antecedent polyposis.These criterias were compatible with HNPCC criterias. Screening should be initiated at the age of 25 and continued during the whole life of the every member of these families.(Key words: Familial Colonic Cancer, Familiality, Family History, Lynch Syndrome) ÖZET Herediter nonpolipoid kolorektal karsinamlar ( HNPCC) otozornal dominant kahtım sonucu ortaya çıkmaktadırlar. Retrospektif olarak değerlendirdiğİrniz bir ailede aynı ebeveynlerden olma be~ karde~ten üçünde kolon kanseri geli~mi~tir. Olgular arasında birinci derecede akrabalık görülmesi, 2'sinin proksimal kolonda yer alması, ortaya çıkı~ ya~ı ortalamasının 34 olması ile HNPCC kriterlerine uyum göstermektedir. HNPCC ailelerinde birinci derece akrabalıkta malinite riskinin yüksek olması, bireylerin 25 ya~ından itibaren ya~am boyu sürecek bir izlem programına alınmalarını gerektirmektedir.

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Evolution of hereditary non-polyposis colorectal cancer.

Cited by 173 publications

References 25 publications

Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer

Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer

Microsatellite Instability in Adenomas as a Marker for Hereditary Nonpolyposis Colorectal Cancer

A Family With Hereditary Nonpolipoid Colocteral Carcinoma

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