ArticleOrphanet journal of rare diseases2013
Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.The British journal of surgery · 2024Guideline
- KRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis.International journal of cancer · 2026Article
- Analysis ofFrontiers in oncology · 2026Article
- Identification of genomic variants associated with colorectal cancer heredity in indigenous populations of the Amazon.Scientific reports · 2025Article
- Early genetic events in the colorectal carcinogenic pathway of familial adenomatous polyposis and sporadic polyp: germline and somatic alterations in carcinogenesis.Frontiers in genetics · 2025Article
- Signaling pathways involved in colorectal cancer: pathogenesis and targeted therapy.Signal transduction and targeted therapy · 2024Review
- Familial Polyposis and Colon Cancer.South Asian journal of cancer · 2024Review
- Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.Journal of medical genetics · 2023Article
- Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil.Global medical genetics · 2023Article
- Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.Translational pediatrics · 2023Article
- The First Case of Cribriform-Morular Thyroid Carcinoma and FAP with APC Gene Mutation in China: A Case Report and Brief Review.Case reports in gastrointestinal medicine · 2023Article
- The Mutation Spectrum and Two Novel Point Mutations in the APC Gene in Vietnamese Patients with Familial Adenomatous Polyposis.Asian Pacific journal of cancer prevention : APJCP · 2022Article
- Identification of a Novel Pathogenic Rearrangement Variant of the APC Gene Associated with a Variable Spectrum of Familial Cancer.Diagnostics (Basel, Switzerland) · 2021Article
- Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2020Article
- Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study.Clinical oral investigations · 2020Article
- PathogenicMedicina (Kaunas, Lithuania) · 2019Article
- Genotype-phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol.Cancer medicine · 2019Article
- Article
- Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.Scientific reports · 2017Article
- Gastrointestinal tract cancers: Genetics, heritability and germ line mutations.Oncology letters · 2017Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPatients with multiple colorectal adenomas are currently screened for germline mutations in two genes, APC and MUTYH. APC-mutated patients present classic or attenuated familial adenomatous polyposis (FAP/AFAP), while patients carrying biallelic MUTYH mutations exhibit MUTYH-associated polyposis (MAP). The spectrum of mutations as well as the genotype-phenotype correlations in polyposis syndromes present clinical impact and can be population specific, making important to obtain genetic and clinical data from different populations.
methodsDNA sequencing of the complete coding region of the APC and MUTYH genes was performed in 23 unrelated Brazilian polyposis patients. In addition, mutation-negative patients were screened for large genomic rearrangements by multiplex ligation-dependent probe amplification, array-comparative genomic hybridization, and duplex quantitative PCR. Biallelic MUTYH mutations were confirmed by allele-specific PCR. Clinical data of the index cases and their affected relatives were used to assess genotype-phenotype correlations.
resultsPathogenic mutations were identified in 20 of the 23 probands (87%): 14 in the APC gene and six in the MUTYH gene; six of them (30%) were described for the first time in this series. Genotype-phenotype correlations revealed divergent results compared with those described in other studies, particularly regarding the extent of polyposis and the occurrence of desmoid tumors in families with mutations before codon 1444 (6/8 families with desmoid).
conclusionsThis first comprehensive investigation of the APC and MUTYH mutation spectrum in Brazilian polyposis patients showed a high detection rate and identified novel pathogenic mutations. Notably, a significant number of APC-positive families were not consistent with the predicted genotype-phenotype correlations from other populations.
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