ArticleFamilial cancer2019
Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis.
Article in Familial cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 40 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
- Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.Familial cancer · 2020Guideline
- Hereditary cancer syndromes with gynecological cancer risk: focus on prevention strategies.Frontiers in oncology · 2026Review
- Tumour spectrum, distinguishing features and management recommendations for NTHL1-associated tumour syndrome: a systematic review.Hereditary cancer in clinical practice · 2025Review
- A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America.Familial cancer · 2024Article
- Phenotype Correlations With Pathogenic DNA Variants in theHuman mutation · 2024Review
- Article
- Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing.NPJ precision oncology · 2023Article
- Phenolic Phytochemicals for Prevention and Treatment of Colorectal Cancer: A Critical Evaluation of In Vivo Studies.Cancers · 2023Review
- Localization of Noise in Biochemical Networks.ACS omega · 2023Article
- Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort.Genes, chromosomes & cancer · 2022Article
- Germline variant testing in serrated polyposis syndrome.Journal of gastroenterology and hepatology · 2022Article
- MUTYH-associated tumor syndrome: The other face of MAP.Oncogene · 2022Review
- Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2022Article
- Incidence of germline variants in Lynch syndrome-related genes among Japanese endometrial cancer patients aged 40 years or younger.International journal of clinical oncology · 2021Article
- Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors.Cancers · 2021Review
- MUTYH: Not just polyposis.World journal of clinical oncology · 2020Review
- Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.Cancers · 2020Article
- Exploring the effect of ascertainment bias on genetic studies that use clinical pedigrees.European journal of human genetics : EJHG · 2019Article
- Complete Response to Immunotherapy in a Patient withCase reports in oncologyArticle
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Biallelic pathogenic variants (PVs) in MUTYH cause MUTYH-Associated Polyposis (MAP), which displays phenotypic overlap with other hereditary colorectal cancer (CRC) syndromes including Familial Adenomatous Polyposis (FAP) and Lynch syndrome. We report the phenotypic spectrum of MAP in the context of multi-gene hereditary cancer panel testing. Genetic testing results and clinical histories were reviewed for individuals with biallelic MUTYH PVs detected by panel testing at a single commercial molecular diagnostic laboratory. Biallelic MUTYH PVs were identified in 82 individuals (representing 0.2% of tested individuals) with most (75/82; 91.5%) reporting a personal history of CRC and/or polyps. Ten percent (6/61) of individuals reporting polyp number reported fewer than 10 polyps and therefore did not meet current MAP testing criteria. Extracolonic cancers (21/82; 25.6%), multiple primaries (19/82; 23.2%), Lynch-like (17/82; 20.7%) and FAP-like phenotypes (16/82; 19.5%) were observed, including individuals with mismatch repair-deficient tumors (3/82; 3.7%), sebaceous neoplasms (2/82; 2.4%), or congenital hypertrophy of the retinal pigment epithelium (CHRPE) (2/82; 2.4%). We report what is to our knowledge the first cohort of individuals with MAP identified by panel testing. The phenotypic spectrum of MAP observed in this cohort aligns with the published literature. In addition to standard indications for MUTYH testing, our data provide evidence to support consideration of MAP in the differential diagnosis for some individuals with fewer than 10 polyps, depending on other personal and/or family history, as well as for individuals suspected to have Lynch syndrome or FAP.
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