Results 11 to 20 of about 2,323 (154)

MutYH-associated polyposis [PDF]

Терапевтический архив, 2019
MutYH-associated polyposis is the only polyposis syndrome with an autosomal recessive type of inheritance, often phenotypically similar to a weakened form of familial adenomatous polyposis.
M Kh Toboeva, Yu A Shelygin, S A Frolov, M A Kuzminov, A S Tsukanov   +4 more
doaj   +4 more sources

Prevalence of MUTYH Monoallelic Variants in Patients With Hereditary Cancer Using Multigene Panel Testing [PDF]

Cancer Medicine
Background The MUTYH gene is involved in DNA repair and is known for MAP (MUTYH‐associated polyposis), an autosomal recessive disorder that predisposes individuals to colorectal cancer (CRC), with a lifetime risk ranging from 40% to 90%.
Gemma Caliendo, Chiara Della Pepa, Alessia Mignano, Luisa Albanese, Luana Passariello, Anna Cozzolino, Francesca Iengo, Anna Maria Molinari, Laura Pesce, Maria Teresa Vietri   +9 more
doaj   +2 more sources

Familial Adenomatous Polyposis-Risk of Cancer, Cancer Prevention, and Long-Term Consequences: Learnings from Five Decades with the Danish Polyposis Register. [PDF]

APMIS
ABSTRACT Familial adenomatous polyposis (FAP) is a hereditary condition marked by the growth of hundreds to thousands of adenomatous polyps in the colon and rectum, significantly elevating the risk of colorectal cancer (CRC) if left untreated. Caused by pathogenic variants in the APC gene, FAP is typically identified in adolescence, often leading to ...
Karstensen JG.
europepmc   +2 more sources

An intriguing journey into the hereditary syndromes predisposing to endometrial cancer: more than believed [PDF]

Therapeutic Advances in Medical Oncology
Endometrial cancer (EC) is a gynecologic neoplasm with a constantly increasing incidence, especially in high-income countries. Obesity, diabetes, old age, and genetic predisposition account for the main risk factors.
Daniele Fanale, Luigi Magrin, Lidia Rita Corsini, Erika Pedone, Chiara Brando, Tancredi Didier Bazan Russo, Pietro Ferraro, Karen Carobene, Elga Adriana Cipolla, Giovanni Colletta, Mattia Puglisi, Antonio Galvano, Salvatore Vieni, Gianni Pantuso, Antonino Giulio Giannone, Giuseppe Badalamenti, Lorena Incorvaia, Antonio Russo, Viviana Bazan   +18 more
doaj   +2 more sources

An individual with both MUTYH-associated polyposis and Lynch syndrome identified by multi-gene hereditary cancer panel testing: a case report [PDF]

Frontiers in Genetics, 2016
The utilization of next-generation sequencing technology to interrogate multiple genes simultaneously is being utilized more frequently in hereditary cancer testing.
Stephanie A Cohen, Christopher A Tan, Ryan eBisson   +2 more
doaj   +2 more sources

Genomic characterization of patients with colorectal cancer [PDF]

Hereditary Cancer in Clinical Practice
Background Hereditary colorectal cancer (CRC) predisposition syndromes account for 5–10% of all diagnosed CRC cases. Lynch syndrome (LS), Familial Adenomatous Polyposis (FAP), and MUTYH-associated polyposis (MAP) are well-characterized hereditary ...
Marwa Mahdouani, Drenushe Zhuri, Fulya Dusenkalkan, Hakan Gurkan, Sinem Yalcintepe   +4 more
doaj   +2 more sources

Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients. [PDF]

PLoS ONE
ObjectiveColorectal cancer (CRC) is among the most commonly diagnosed cancers worldwide, with 2% to 5% of cases being linked to inherited syndromes.Material and methodsA cohort of 30 Tunisian patients was selected and divided into two groups based on ...
Rania Abdelmaksoud-Dammak, Nihel Ammous-Boukhris, Amena Saadallah-Kallel, Dorra Ben Ayed-Guerfali, Souhir Guidara, Imen Miladi-Abdennadher, Ikhlas Ben Ayed, Hassen Kamoun, Slim Charfi, Tahya Sellami-Boudawara, Imen Zribi, Foued Frikha, Salah Boujelbene, Raja Mokdad-Gargouri   +13 more
doaj   +2 more sources

MUTYH Associated Polyposis (MAP) [PDF]

Current Genomics, 2008
MUTYH Associated Polyposis (MAP), a Polyposis predisposition caused by biallelic mutations in the Base Excision Repair (BER) gene MUTYH, confers a marked risk of colorectal cancer (CRC). The MAP phenotype is difficult to distinguish from other hereditary CRC syndromes.
Poulsen, Marie Louise Mølgaard, Bisgaard, M L   +1 more
  +11 more sources

A Case of Polymerase Proofreading‐Associated Polyposis: Challenges in Genetic Diagnosis [PDF]

JGH Open
Background Polymerase proofreading‐associated polyposis (PPAP) is a rare autosomal dominant hereditary syndrome caused by germline pathogenic variants in the POLE or POLD1 genes.
Haruka Ito, Akiko Chino, Arisa Ueki, Keika Kaneko, Shoichi Saito   +4 more
doaj   +2 more sources

Large Rearrangements in Genes Responsible for Familial Adenomatous Polyposis, MUTYH-Associated Polyposis and Peutz–Jeghers Syndrome in Russian Patients

Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2023
Аim: to reveal the rate of large rearrangements in the genes responsible for familial adenomatous polyposis, MUTYH-associated polyposis and Peutz–Jeghers syndrome.Materials and methods. The MLPA method was used for identification of large rearrangements.
A. N. Loginova, Yu. A. Shelygin, V. P. Shubin, A. M. Kuzminov, D. Yu. Pikunov, T. A. Saveleva, A. S. Tsukanov   +6 more
doaj   +1 more source