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

Park, Jae-Gahb; Park, Young Jin; Wijnen, Juul T.; Vasen, Hans F. A.

doi:10.1002/(sici)1097-0215(19990812)82:4<516::aid-ijc8>3.0.co;2-u

Cited by 71 publications

(35 citation statements)

References 12 publications

(14 reference statements)

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“…An estimated 2.7% to 10% of pancreatic cancers occur in families where there is at least one other case (5)(6)(7)(8). In some instances, this is associated with a general familial cancer syndrome, such as familial atypical multiple-mole melanoma syndrome, familial adenomatous polyposis, hereditary nonpolyposis colorectal cancer, hereditary breast-ovarian cancer syndrome, and Peutz-Jeghers syndrome (9)(10)(11)(12)(13), although in most cases, these syndromes are associated with isolated rather than multiple cases of pancreatic cancer. Germ line mutations in various mismatch repair genes, including both MutS homologues (hMSH2) and MutL homologues (hMLH1), are associated with pancreatic cancer in some patients in hereditary nonpolyposis colorectal cancer families (14).…”

Section: Introductionmentioning

confidence: 99%

Evaluation of the 4q32-34 Locus in European Familial Pancreatic Cancer

Earl

Li²,

Vitone³

et al. 2006

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background: Familial pancreatic cancer (FPC) describes a group of families where the inheritance of pancreatic cancer is consistent with an autosomal-dominant mode of inheritance. The 4q32-34 region has been previously identified as a potential locus for FPC in a large American family. Methods: The region was allelotyped in 231 individuals from 77 European families using nine microsatellite markers, and haplotyping was possible in 191 individuals from 41 families. Families were selected based on at least two affected first-degree relatives with no other cancer syndromes. Results: Linkage to most of the locus was excluded based on LOD scores less than À2.0. Eight families were excluded from linkage to 4q32-34 based on haplotypes not segregating

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Section: Introductionmentioning

confidence: 99%

Evaluation of the 4q32-34 Locus in European Familial Pancreatic Cancer

Earl

Li²,

Vitone³

et al. 2006

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…We previously demonstrated that the impact of genetic defect on carcinogenesis is modulated by an environmental risk factor in hereditary nonpolyposis colorectal cancer patients [16] . In addition, we tried to delineate the relationship between hOGG1 enzyme activity and the allele type harbored in Ser326Cys polymorphism in vivo [17] .…”

Section: Introductionmentioning

confidence: 99%

hOGG1 Ser326Cys polymorphism modifies the significance of the environmental risk factor for colon cancer

Kim

Park²,

Kim³

et al. 2003

WJG

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AIM:To determine the association of hOGG1 (8-oxoguanine glycosylase I, OGG1) polymorphism of Ser326Cys substitution with colon cancer risk and possible interaction with known environmental risk factors. METHODS:A case-control study with 125 colon cancer cases and 247 controls was conducted. RESULTS:There was no major difference in Ser326Cys genotype distribution between cases and controls. The meat intake tended to increase the odds ratio for colon cancer with an OR of 1.72 (95 % confidence interval; CI=1.12-2.76). Such tendency was more prominent in Cys/Cys carriers (OR=4.31, 95 % CI=1.64-11.48), but meat intake was not a significant risk factor for colon cancer in Ser/Ser or Ser/ Cys carriers. The OR for colon cancer was elevated with marginal significance in smokers who were Cys/Cys carriers (OR=2.75, 95 % CI=1.07-7.53) but not in Ser/Ser or Ser/ Cys carriers. CONCLUSION:These results suggest that the hOGG1 Ser326Cys polymorphism is probably not a major contributor to individual colon cancer susceptibility overall, but the Cys/ Cys genotype may alter the impact of some environmental factors on colon cancer development.Kim JI, Park YJ, Kim KH, Kim JI, Song BJ, Lee MS, Kim CN, Chang SH. hOGG1 Ser326Cys polymorphism modifies the significance of the environmental risk factor for colon cancer. World J Gastroenterol 2003; 9(5): 956-960

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“…The incidence and distribution of LS-associated cancers differ among races and countries (Benatti et al 1993;Park et al 1999). Some reports have indicated that gastric cancer in LS patients occurs more frequently in East Asia than in Western countries (Lindor et al 2006;Vasen et al 2013).…”

Section: Discussionmentioning

confidence: 99%

“…On the other hand, screening strategies that consist of clinical data and molecular analyses are needed (Garg and Soslow 2009;Kwon et al 2011), and these strategies may lead to optimization and cost reductions for identifying LS. The incidences of LS-associated cancers differ among races, ethnicities, and geographical regions (Benatti et al 1993;Park et al 1999), but the research on the clinical distribution and identification strategies of LS in unselected EC patients have been reported only in Western countries. Understanding the regional characteristics and clinical features of LS in EC patients would lead to more appropriate identification strategies and surveillance methods, but no investigative research covering the entire population of EC patients has been conducted in East Asia.…”

Section: Introductionmentioning

confidence: 99%

Efficient Screening Strategy for Lynch Syndrome in Japanese Endometrial Cancer

Sugawara

Sato

Shimizu

et al. 2015

Tohoku J. Exp. Med.

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Lynch syndrome (LS) is an inherited disorder caused by a germline mutation in the DNA mismatch repair (MMR) genes and is associated with increased risk of various cancers, particularly colorectal cancer and endometrial cancer (EC). It is significant to identify LS in EC patients for prediction and prevention of the succeeding other associated cancers. However, useful LS screening guidelines for EC have not been established. The purpose of our study is to devise an efficient and practical screening strategy for LS in EC. We designed original criteria, named "APF criteria," with lenient terms (Age of onset < 50, or Personal or Family history of associated cancers) and applied it to unselected EC patients. We performed immunohistochemistry (IHC) and the methylation assay of MutL homolog 1 (MLH1) gene promoter using the tumors of patients who met our criteria, and thus selected "suspected LS" as the candidates for genetic analyses. Of 360 EC patients, 187 (51.9%) met the APF criteria, and the tumor specimens were available from 182 out of the 187 patients. IHC revealed that expression of at least one MMR protein was absent in cell nuclei of 54 (29.6%) tumors. Of 20 tumors lacking MLH1 protein expression, 14 cases were judged sporadic EC because of the hypermethylated MLH1 promoter. We thus selected 40 (11.1%) of 360 EC patients as "suspected LS." Our strategy that consists of clinical triage and the molecular analyses is expected to improve the screening efficiency and reduce the cost of LS identification in EC.

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

Cited by 71 publications

References 12 publications

Evaluation of the 4q32-34 Locus in European Familial Pancreatic Cancer

Evaluation of the 4q32-34 Locus in European Familial Pancreatic Cancer

hOGG1 Ser326Cys polymorphism modifies the significance of the environmental risk factor for colon cancer

Efficient Screening Strategy for Lynch Syndrome in Japanese Endometrial Cancer

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