MUTYH-associated tumor syndrome: The other face of MAP

Magrin, Luigi; Fanale, Daniele; Brando, Chiara; Corsini, Lidia Rita; Randazzo, Ugo; Piazza, Mariaconcetta Di; Gurrera, Vittorio; Pedone, Erika; Russo, Tancredi Didier Bazan; Vieni, Salvatore; Pantuso, Gianni; Russo, Antonio; Bazan, Viviana

doi:10.1038/s41388-022-02304-y

Cited by 16 publications

(11 citation statements)

References 102 publications

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“…Other hereditary CRC syndromes worth noting include Peutz–Jeghers syndrome (PJS) caused by a mutation in Serine/threonine kinase 11 ( STK11 ), usually presenting as multiple benign hamartomatous polyps [ 42 , 43 ], and MUTYH-associated polyposis (MAP) inherited in an autosomal recessive pattern characterized by biallelic germline mutations in MutY DNA glycosylase ( MUTYH ), a gene having a role in base excision repair (BER) [ 26 , 44 ]. Familial adenomatous polyposis (FAP), a well-studied disease with an autosomal dominant inheritance, has been reported to be caused by insertions and deletions in the adenomatous polyposis coli ( APC ) tumor suppressor gene [ 45 ].…”

Section: Genetics Of Crcmentioning

confidence: 99%

Extracellular Nucleic Acids in the Diagnosis and Progression of Colorectal Cancer

Styk

Buglyó

Pös

et al. 2022

Cancers

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Colorectal cancer (CRC) is the 3rd most common malignant neoplasm worldwide, with more than two million new cases diagnosed yearly. Despite increasing efforts in screening, many cases are still diagnosed at a late stage, when mortality is high. This paper briefly reviews known genetic causes of CRC (distinguishing between sporadic and familial forms) and discusses potential and confirmed nucleic acid biomarkers obtainable from liquid biopsies, classified by their molecular features, focusing on clinical relevance. We comment on advantageous aspects such as better patient compliance due to blood sampling being minimally invasive, the possibility to monitor mutation characteristics of sporadic and hereditary CRC in a disease showing genetic heterogeneity, and using up- or down-regulated circulating RNA markers to reveal metastasis or disease recurrence. Current difficulties and thoughts on some possible future directions are also discussed. We explore current evidence in the field pointing towards the introduction of personalized CRC management.

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Section: Genetics Of Crcmentioning

confidence: 99%

Extracellular Nucleic Acids in the Diagnosis and Progression of Colorectal Cancer

Styk

Buglyó

Pös

et al. 2022

Cancers

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“…This amino acid is located in the C-terminal domain of the protein (exon 13) and its replacement reduces the interaction between enzyme and substrate, compromising enzymatic activity. 16,17 This is one of the main variants that predispose to MUTYH-associated polyposis (MAP), 18 a hereditary syndrome whose main clinical manifestations are the early development of multiple adenomatous polyps along the intestine and colorectal cancer (CRC). However, in addition to these, other extraintestinal manifestations can a ►Supplementary Table S3.…”

Section: Discussionmentioning

confidence: 99%

Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil

Oliveira,

Correa,

Acosta

et al. 2023

Glob Med Genet

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Introduction Cancer is a multifactorial disease dependent on the influence of genetic and environmental factors. About 10% of cancers are associated with germline mutations, which predispose to a higher risk of developing cancer. Currently, the use of panels that identify susceptibility and/or association genes cancer has been increasingly used, both in clinical practice and in scientific research. Objective To investigate genetic mutations in patients with a profile for hereditary cancer in individuals from a region of northeast Brazil, where there is a high frequency of endogenous and consanguineous marriages. Methods A set of 17 genes (BRCA1, BRCA2, APC, TP53, PTEN, RET, VHL, RB1, CDKN2, CDH1, CHEK2, MLH1, MSH2, MSH6, MUTYH, XPA, and XPC) associated with cancer and hereditary syndromes were analyzed. Fifteen patients with a hereditary cancer profile were evaluated. Results The pathogenic variant found was c.1187G > A (p.Gly396Asp), rs36053993 in the MUTYH gene in a male patient diagnosed with melanoma at the age of 43 years and a family history for this tumor. This gene encodes an important enzyme related to DNA repair and has been associated with other types of cancer, this is the first report of an association with melanoma, the biological plausibility of this association is given once the MUTYH protein is expressed in the skin tissue and is responsible for repairing damage caused, for example, by sun exposure. Conclusion The results of this study suggest that this mutation may be important for the hereditary predisposition to melanoma, but a broader investigation of this mutation is needed.

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“…Early-onset cancer is a hallmark of an inherited cancer predisposition (35,36), and studies have shown that patients with mutations in RCC-associated genes, such as VHL, FH, FLCN, and SDHB, are at risk for the development of early-onset RCC (37)(38)(39). Loss of function of MUTYH accounts for 3% of early-onset CRC (40,41). Mutations in MRE11-RAD50-NBS1 (MRN) complex components, FANCM, or FANCI are associated with earlyonset cancers (42)(43)(44).…”

Section: Discussionmentioning

confidence: 99%

Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma

Feng¹,

Cao²,

Ouyang³

et al. 2023

Transl Androl Urol

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Background: Germline pathogenic variants are estimated to affect 3-5% of patients with renal cell carcinoma (RCC). The identification of patients with hereditary RCC is important for cancer screening and treatment guidance.Methods: Whole-exome sequencing (WES) (n=69) or gene panel sequencing containing 139 genes (n=54) related to germline cancer predisposition was used to analyze germline mutations in 123 patients with

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MUTYH-associated tumor syndrome: The other face of MAP

Cited by 16 publications

References 102 publications

Extracellular Nucleic Acids in the Diagnosis and Progression of Colorectal Cancer

Extracellular Nucleic Acids in the Diagnosis and Progression of Colorectal Cancer

Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil

Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma

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