MYH polyposis syndrome: clinical findings, genetics issues and management

Sereno, María; Merino, M.; López-Gómez, Miriam; Gómez-Raposo, César; Tébar, Francisco Zambrana; Moreno-Rubio, Juan; Espinós, Jaime; Martín‐Algarra, Salvador; Sáenz, Enrique Casado

doi:10.1007/s12094-014-1171-0

Cited by 15 publications

(13 citation statements)

References 21 publications

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“…Off-target toxicity and mutation could also be minimised using a cancer cell-specific delivery method. This is important in the case of MYH as mutations in this protein are known to cause colon cancer [34]. Moreover, MYH knockout mice, while viable, are 1.7 times more likely to develop spontaneous tumours, particularly in the intestines [35].…”

Section: Discussionmentioning

confidence: 99%

MutY-Homolog (MYH) inhibition reduces pancreatic cancer cell growth and increases chemosensitivity

et al. 2016

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Patients with pancreatic ductal adenocarcinoma (PC) have a poor prognosis due to metastases and chemoresistance. PC is characterized by extensive fibrosis, which creates a hypoxic microenvironment, and leads to increased chemoresistance and intracellular oxidative stress. Thus, proteins that protect against oxidative stress are potential therapeutic targets for PC. A key protein that maintains genomic integrity against oxidative damage is MutY-Homolog (MYH). No prior studies have investigated the function of MYH in PC cells. Using siRNA, we showed that knockdown of MYH in PC cells 1) reduced PC cell proliferation and increased apoptosis; 2) further decreased PC cell growth in the presence of oxidative stress and chemotherapy agents (gemcitabine, paclitaxel and vincristine); 3) reduced PC cell metastatic potential; and 4) decreased PC tumor growth in a subcutaneous mouse model in vivo. The results from this study suggest MYH may be a novel therapeutic target for PC that could potentially improve patient outcome by reducing PC cell survival, increasing the efficacy of existing drugs and reducing metastatic spread.

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Section: Discussionmentioning

confidence: 99%

MutY-Homolog (MYH) inhibition reduces pancreatic cancer cell growth and increases chemosensitivity

et al. 2016

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“…Twenty‐six of the 157 patients (17%) had MSS tumours and are FCC type X (Amsterdam families + MSS tumours). Type X families do not have a syndrome but can have one of several genotypes including MUTYH ‐associated polyposis, NTHL1 ‐associated polyposis, polymerase proofreading‐associated polyposis, serrated polyposis, or even LS. Sometimes MSI and IHC give falsely normal results.…”

Section: Discussionmentioning

confidence: 99%

Hereditary non‐polyposis colorectal cancer/Lynch syndrome in three dimensions

Kravochuck

Church

2016

ANZ Journal of Surgery

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“…FAP occurs in 1 in 8,300 to 14,000 individuals, approximately one-half of whom develop colorectal adenomas by the age of 16 years [ 32 , 33 ]. Patients with the classical FAP phenotype carry germline mutations in APC ; and in > 90% of individuals, the lifetime risk for CRC exceeds 90% in the absence of proctocolectomy, along with increased risks of duodenal cancer, pancreatic cancer, medulloblastoma, and papillary thyroid cancer, as well as hepatoblastoma in children aged < 5 years [ 10 ].…”

Section: Inherited Polyposis Syndromementioning

confidence: 99%

Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer

Kim

Bodmer

2021

Ann Coloproctol

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The genomic causes and clinical manifestations of hereditary colorectal cancer (HCRC) might be stratified into 2 groups, namely, familial (FCRC) and a limited sense of HCRC, respectively. Otherwise, FCRC is canonically classified into 2 major categories; Lynch syndrome (LS) or associated spectra and inherited polyposis syndrome. By contrast, despite an increasing body of genotypic and phenotypic traits, some FCRC cannot be clearly differentiated as definitively single type, and the situation has become more complex as additional causative genes have been discovered. This review provides an overview of HCRC, including 6 LS or associated spectra and 8 inherited polyposis syndromes, according to molecular pathogenesis. Variants and newly-identified FCRC are particularly emphasized, including MUTYH (or MYH)-associated polyposis, Muir-Torre syndrome, constitutional mismatch repair deficiency, EPCAM-associated LS, polymerase proofreading-associated polyposis, RNF43- or NTHL1-associated serrated polyposis syndrome, PTEN hamartoma tumor syndrome, and hereditary mixed polyposis syndrome. We also comment on the clinical utility of multigene panel tests, focusing on comprehensive cancer panels that include HCRC. Finally, HCRC surveillance strategies are recommended, based on revised or notable concepts underpinned by competent validation and clinical implications, and favoring major guidelines. As hereditary syndromes are mainly attributable to genomic constitutions of distinctive ancestral groups, an integrative national HCRC registry and guideline is an urgent priority.

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MYH polyposis syndrome: clinical findings, genetics issues and management

Cited by 15 publications

References 21 publications

MutY-Homolog (MYH) inhibition reduces pancreatic cancer cell growth and increases chemosensitivity

MutY-Homolog (MYH) inhibition reduces pancreatic cancer cell growth and increases chemosensitivity

Hereditary non‐polyposis colorectal cancer/Lynch syndrome in three dimensions

Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer

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