Results 1 to 10 of about 2,273 (122)

Complete Response to Immunotherapy in a Patient with MUTYH-Associated Polyposis and Gastric Cancer: A Case Report [PDF]

Case Reports in Oncology, 2023
MUTYH-associated polyposis syndrome is an uncommon, autosomal recessive colorectal polyposis syndrome caused by biallelic inactivation of MUTYH. Most patients present with multiple colorectal polyps. However, other primary tumor sites have been described
Maria Cecilia Mathias-Machado, Renata D. Peixoto, Patricia Ashton-Prolla, Leonard Medeiros da Silva, Rodrigo Dienstmann   +4 more
doaj   +2 more sources

Intussusception reveals MUTYH-associated polyposis syndrome and colorectal cancer: a case report [PDF]

BMC Cancer, 2019
Background We are reporting a rare case of MUTYH-associated polyposis, a colorectal cancer hereditary syndrome, diagnosticated after an intussusception.
Gustavo Heluani Antunes de Mesquita, Bárbara Justo Carvalho, Kayo Augusto de Almeida Medeiros, Fernanda Nii, Diego Ramos Martines, Leonardo Zumerkorn Pipek, Yuri Justi Jardim, Daniel Reis Waisberg, Marcos Takeo Obara, Roberta Sitnik, Alberto Meyer, Cristóvão Luis Pitangueiras Mangueira   +11 more
doaj   +2 more sources

KRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis. [PDF]

Int J Cancer
What's new? MUTYH‐associated polyposis is an underdiagnosed recessive syndrome that predisposes individual to colorectal cancer and frequently displays KRAS‐G12C mutations. By analyzing a large cohort of colorectal cancer patients routinely tested for KRAS, the authors assessed whether KRAS‐G12C detection could serve as a pre‐screening tool for the ...
Medeiros ABD, Dos Santos GO, Casali-da-Rocha JC, Junior SA, Souza E Silva V, Berardinelli GN, Antoniazzi AP, Reis RM, Carraro DM, Torrezan GT.   +9 more
europepmc   +2 more sources

Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants

Molecular Genetics & Genomic Medicine, 2021
Backgrounds MUTYH‐associated polyposis (MAP) is an autosomal recessive disease caused by biallelic pathogenic variants (PV) of the MUTYH gene. The aim of this study was to investigate the genetic causes of unexplained polyposis patients with monoallelic ...
Mónica Pedroni, Isabella Mammi, Antonio Percesepe   +2 more
exaly   +2 more sources

The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case [PDF]

Hereditary Cancer in Clinical Practice
Multiple polyposis syndromes include Familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome (PJS), Juvenile polyposis syndrome (JPS), PTEN hamartoma tumor syndrome (PHTS), MUTYH-associated polyposis (MAP), NTHL1-associated polyposis (NAP ...
Natalia Grot, Marek Kazimierczyk, Marcin Szuman, Marta Kaczmarek-Ryś, Alicja Kryszczyńska, Iga Dziechciowska, Monika Knaur, Andrzej Hnatyszyn, Szymon Hryhorowicz, Andrzej Pławski   +9 more
doaj   +2 more sources

Sebaceomas in a Muir–Torre-like Phenotype in a Patient with MUTYH-Associated Polyposis [PDF]

Dermatopathology
This case report describes a case of a patient with MUTYH-associated polyposis (MAP), who presented with multiple sebaceomas in a Muir–Torre-like phenotype.
Julia Guarrera, James C. Prezzano, Kathleen A. Mannava   +2 more
doaj   +2 more sources

Hereditary Colorectal Tumors: A Literature Review on MUTYH-Associated Polyposis [PDF]

Gastroenterology Research and Practice, 2017
MAP (MUTYH-associated polyposis) is a syndrome, described in 2002, which is associated with colorectal adenomas, with enhanced colorectal carcinogenesis.
Micaella Kantor, Javier Sobrado, Sima Patel, Sara Eiseler, Christopher Ochner   +4 more
doaj   +2 more sources

Distinct Germline Mutation Landscape and Clinical Implications in Chinese Colorectal Cancer: A Large-Scale Genomic Analysis of 1094 Patients. [PDF]

Cancer Med
ABSTRACT Objective To investigate the prevalence, characteristics, and clinical implications of germline mutations in a consecutive cohort of Chinese colorectal cancer (CRC) patients, providing insights that may inform population‐specific genetic testing strategies.
Lu L, Peng X, Zhang J, Ding Y, Lu J, Lin H, Wu H, Wang X, Ba Y.   +8 more
europepmc   +2 more sources

Mono-allelic MUTYH mutation as the likely inherited etiology of hereditary breast cancer in a patient from a multi-cancer family- report of a family and literature review [PDF]

BMC Medical Genomics
Background Breast cancer (BC) is the most prevalent cancer globally. Carriers of pathogenic variants in high- or moderate-penetrance genes, have an increased risk of developing hereditary BC (HBC).
Akram Sarmadi, Shaghayegh Haghjooy Javanmard, Mehrdad Zeinalian, Majid Hosseinzadeh, Mohammad Amin Tabatabaiefar   +4 more
doaj   +2 more sources

Morular Metaplasia in Fundic Gland Polyps-A Case Report of a Rare Finding in a Common Lesion. [PDF]

Case Rep Pathol
Background Morular metaplasia is a phenomenon described in neoplasms of various sites, including endometrioid neoplasms of the uterus and colonic tubular adenomas. Although of questionable biological significance, they may be confused with squamous differentiation/neoplasia or neuroendocrine lesions.
Kennedy B, Jacob D, Bernal K, Talmon G.
europepmc   +2 more sources