Defining HNPCC and Lynch syndrome: what's in a name?: Table 1

Kravochuck, Sara E.; Kalady, Matthew F.; Burke, C A; Heald, Brandie; Church, James M.

doi:10.1136/gutjnl-2014-307344

Cited by 12 publications

(7 citation statements)

References 7 publications

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“…In some cases, however, the detection or annotation of a germline mutation is challenging or even unachievable. These patients have been referred to as having Lynch-like syndrome 11. Lynch and Lynch-like CRC is generally characterised by the absence of the oncogenic BRAF V600E that is commonly found in sporadic MSI CRC 12 13.…”

Section: Introductionmentioning

confidence: 99%

Activating ERBB2/HER2 mutations indicate susceptibility to pan-HER inhibitors in Lynch and Lynch-like colorectal cancer

Kloth

Ruesseler

Engel

et al. 2015

Gut

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Section: Introductionmentioning

confidence: 99%

Activating ERBB2/HER2 mutations indicate susceptibility to pan-HER inhibitors in Lynch and Lynch-like colorectal cancer

Kloth

Ruesseler

Engel

et al. 2015

Gut

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“…To date, several monogenic forms have been delineated, including various gastrointestinal polyposis syndromes and Lynch syndrome. However, in a number of families with a gastrointestinal polyposis and families meeting the Amsterdam I or II criteria, which define the hereditary nonpolyposis colorectal cancer (HNPCC) phenotype, no pathogenic germline mutation is identified.…”

mentioning

confidence: 99%

“…In families where the Amsterdam criteria are met and tumor tissue shows evidence for microsatellite instability and loss of mismatch repair (MMR) proteins with immunohistochemical staining, a germline mutation in one of the MMR genes MLH1, MSH2, MSH6 and PMS2 or the EPCAM gene is present in 70–80% (these cases are designated as Lynch syndrome).…”

mentioning

confidence: 99%

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

Spier

Holzapfel

Altmüller

et al. 2015

Intl Journal of Cancer

127

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In a number of families with colorectal adenomatous polyposis or suspected Lynch syndrome/HNPCC, no germline alteration in the APC, MUTYH, or mismatch repair (MMR) genes are found. Missense mutations in the polymerase genes POLE and POLD1 have recently been identified as rare cause of multiple colorectal adenomas and carcinomas, a condition termed polymerase proofreading‐associated polyposis (PPAP). The aim of the present study was to evaluate the clinical relevance and phenotypic spectrum of polymerase germline mutations. Therefore, targeted sequencing of the polymerase genes POLD1, POLD2, POLD3, POLD4, POLE, POLE2, POLE3 and POLE4 was performed in 266 unrelated patients with polyposis or fulfilled Amsterdam criteria. The POLE mutation c.1270C>G;p.Leu424Val was detected in four unrelated patients. The mutation was present in 1.5% (4/266) of all patients, 4% (3/77) of all familial cases and 7% (2/30) of familial polyposis cases. The colorectal phenotype in 14 affected individuals ranged from typical adenomatous polyposis to a HNPCC phenotype, with high intrafamilial variability. Multiple colorectal carcinomas and duodenal adenomas were common, and one case of duodenal carcinoma was reported. Additionally, various extraintestinal lesions were evident. Nine further putative pathogenic variants were identified. The most promising was c.1306C>T;p.Pro436Ser in POLE. In conclusion, a PPAP was identified in a substantial number of polyposis and familial colorectal cancer patients. Screening for polymerase proofreading mutations should therefore be considered, particularly in unexplained familial cases. The present study broadens the phenotypic spectrum of PPAP to duodenal adenomas and carcinomas, and identified novel, potentially pathogenic variants in four polymerase genes.

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“…However, in clinical practice the terms "HNPCC" and "Lynch syndrome" are usually used synonymously. 12 Usually for Lynch syndrome confirmation, the tumor tissue is analyzed for evidence of deficient mismatch repair. If such evidence is found, a genetic mutation is sought.…”

Section: Introductionmentioning

confidence: 99%

Extensive colectomy in colorectal cancer and hereditary nonpolyposis colorectal cancer – long-term results

Santos

Silva

Oliveira

et al. 2019

Journal of Coloproctology

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Background Colorectal cancer survival is better in hereditary nonpolyposis colorectal cancer patients than in sporadic colorectal cancer patients and even for hereditary nonpolyposis colorectal cancer with colorectal cancer is not consensual that extensive colectomy is preferable to partial colectomy. This study analyzes and compares the long-term results of these two groups of patients submitted to curative subtotal colectomy or total colectomy. Methods Between 2002 and 2018, 68 patients with colorectal cancer without familial adenomatous polyposis were submitted to a total or subtotal colectomy in a single tertiary center. The patients were divided in two groups: hereditary nonpolyposis colorectal cancer patients (with Amsterdam criteria) and sporadic colorectal cancer patients (the others). The presence of Amsterdam criteria for hereditary nonpolyposis colorectal cancer and germline mutation for mismatch repair genes was confirmed by clinical records. Results and survival were analyzed following surgery. Results We obtained a sporadic colorectal cancer group with 31 patients and a hereditary nonpolyposis colorectal cancer group with 37 patients. The two groups differ in age but not in gender, tumor stage or surgical morbidity. The overall survival and disease-free survival were good in both groups but even better for hereditary nonpolyposis colorectal cancer group with statistical significance when comparing the two groups. Conclusion Total or subtotal colectomy for colorectal cancer provides a good survival. These surgical procedures should be considered the first option for colorectal cancer in young hereditary non polyposis colorectal cancer patients. In those cases, they provide good long-term results, avoiding the risk of metachronous colorectal cancer and the surveillance is restricted only to the remaining need for rectum.

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Defining HNPCC and Lynch syndrome: what's in a name?: Table 1

Cited by 12 publications

References 7 publications

Activating ERBB2/HER2 mutations indicate susceptibility to pan-HER inhibitors in Lynch and Lynch-like colorectal cancer

Activating ERBB2/HER2 mutations indicate susceptibility to pan-HER inhibitors in Lynch and Lynch-like colorectal cancer

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

Extensive colectomy in colorectal cancer and hereditary nonpolyposis colorectal cancer – long-term results

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