Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012

Aretz, Stefan; Genuardi, Maurizio; Hes, Frederik J.

doi:10.1038/ejhg.2012.163

Cited by 35 publications

(24 citation statements)

References 14 publications

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“…Two common mutations, c.536A>G; p.Y179C and c.1187G>A; p.G396D, are reportedly responsible for approximately 80% of MAP cases in Caucasian populations (2,10), although large deletions (11) and other low-frequency mutations have also been identified in this gene (12). The International Society for Gastrointestinal Hereditary Tumors (InSiGHT) database presently includes 300 unique DNA variants of the MUTYH gene, some of which are probable founder mutations in different populations.…”

Section: Introductionmentioning

confidence: 99%

Prevalence and Characteristics of MUTYH-Associated Polyposis in Patients with Multiple Adenomatous and Serrated Polyps

Guarinós

Juárez

Egoavil

et al. 2014

Clinical Cancer Research

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Purpose: The present study aimed to determine the prevalence of MUTYH mutations in patients with multiple colonic polyps and to explore the best strategy for diagnosing MUTYH-associated polyposis (MAP) in these patients.Experimental Design: This study included 405 patients with at least 10 colonic polyps each. All cases were genetically tested for the three most frequent MUTYH mutations. Whole-gene analysis was performed in heterozygous patients and in 216 patients lacking the three most frequent mutations. Polyps from 56 patients were analyzed for the KRAS-Gly12Cys and BRAF V600E somatic mutations.Results: Twenty-seven (6.7%) patients were diagnosed with MAP, of which 40.8% showed serrated polyps. The sensitivity of studying only the three common variants was 74.1%. Of 216 patients without any monoallelic mutation in common variants, whole-gene analysis revealed biallelic pathogenic mutation in only one. G396D mutation was associated with serrated lesions and older age at diagnosis. There was a strong association between germinal MUTYH mutation and KRAS Gly12Cys somatic mutation in polyps. BRAF V600E mutation was found in 74% of serrated polyps in MUTYH-negative patients and in none of the polyps of MAP patients.Conclusions: We observed a low frequency of MUTYH mutations among patients with multiple adenomatous and serrated polyps. The MAP phenotype frequently included patients with serrated polyps, especially when G396D mutation was involved. Our results show that somatic molecular markers of polyps can be useful in identifying MAP cases and support the need for the complete MUTYH gene analysis only in patients heterozygous for recurrent variants.

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Section: Introductionmentioning

confidence: 99%

Prevalence and Characteristics of MUTYH-Associated Polyposis in Patients with Multiple Adenomatous and Serrated Polyps

Guarinós

Juárez

Egoavil

et al. 2014

Clinical Cancer Research

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“…The diagnosis can be established only after exclusion of FAP syndrome by demonstrating an absence of APC mutation. It has been estimated that the prevalence in MUTYH is 1 in 40,000 and 1 in 20,000 (clinical and subclinical carriers) [38]. Gastric involvement (i.e., polyps and carcinoma) is uncommon, but the incidence of duodenal involvement (especially duodenal carcinoma) is comparable to FAPof the following criteria: (a) family history of CRC with an autosomal recessive mode of inheritance, (b) .100 colon polyps in the absence of germline APC mutation, (c) 10-100 colon polyps (including adenomas and hyperplastic type), (d) 1-10 colon adenomas in an individual younger than 10 years of age, or (e) CRC with a specific somatic KRAS mutation (c.34G→T) in codon 12.…”

Section: Overview and Inclusion Criteriamentioning

confidence: 99%

Familial Gastric Cancers

et al. 2015

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Although the majority of gastric carcinomas are sporadic, approximately10% show familial aggregation, and a hereditary cause is determined in 1%-3% cases. Of these, hereditary diffuse gastric cancer is the most recognized predisposition syndrome. Although rare, the less commonly known syndromes also confer a markedly increased risk for development of gastric cancer. Identification and characterization of these syndromes require a multidisciplinary effort involving oncologists, surgeons, genetic counselors, biologists, and pathologists.This article reviews the molecular genetics, clinical and pathologic features, surveillance guidelines, and preventive measures of common and less common hereditary gastric cancer predisposition syndromes. The Oncologist 2015; 20:1365-1377Implications for Practice: Although the majority of gastric adenocarcinomas are sporadic with many of those related to chronic Helicobacter pylori infection, approximately 10% of the cases show familial aggregation, and a specific hereditary cause is determined in 1%-3% cases.This review describes the molecular genetics, clinical and pathologic features, surveillance guidelines, and preventive measures of common and less common hereditary gastric cancer predisposition syndromes. Ultimately, a better understanding of the biology of these conditions should allow early identification and intervention as part of a multidisciplinary approach involving oncologists, surgeons, genetic counselors, and pathologists.

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“…The most relevant differential diagnoses of an attenuated/late-onset FAP is the autosomal recessive MAP caused by biallelic MUTYH germline mutations (see CUGC MAP 16 ) and the autosomal dominant PPAP caused by specific heterozygous POLE or POLD1 germline missense mutations. 17 In case of a low number of (synchronous) adenomas, Lynch syndrome (previously referred to as hereditary non-polyposis colorectal cancer) (see CUGC Lynch syndrome 18 ) should be considered.…”

Section: Commentmentioning

confidence: 99%

Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) - update 2014

2014

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Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012

Cited by 35 publications

References 14 publications

Prevalence and Characteristics of MUTYH-Associated Polyposis in Patients with Multiple Adenomatous and Serrated Polyps

Prevalence and Characteristics of MUTYH-Associated Polyposis in Patients with Multiple Adenomatous and Serrated Polyps

Familial Gastric Cancers

Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) - update 2014

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