Results 21 to 30 of about 6,242 (173)

Role of Genetic Testing and Complex Endoscopic Examination in Differential Diagnosis of Hereditary Polyposes in Pediatric and Adolescent Patients: 10 Years Clinical Experience

Вопросы современной педиатрии, 2023
Background. Hereditary polyposis syndromes (HPS) are a group of rare genetic diseases characterized by multiple epithelial lesions in the gastrointestinal tract (GIT) with high risk of malignancy and neoplasia development in other localizations. The case
Tatiana S. Belysheva, Tatiana V. Nasedkina, Timur T. Valiev, Elena V. Sharapova, Vera V. Semenova, Valentina M. Kozlova, Svetlana N. Mikhaylova, Irina S. Kletskaya, Alexey V. Butuzov, Yana V. Vishnevskaja, Valeria V. Lozovaya, Olga A. Gusarova, Armen O. Tumanyan, Olga A. Malichova, Svetlana R. Varfolomeeva   +14 more
doaj   +1 more source

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

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   +1 more source

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 ...
Anastasia Dell’Elice, Giulia Cini, Mara Fornasarig, Franco Armelao, Daniela Barana, Francesca Bianchi, Guido Claudio Casalis Cavalchini, Antonella Maffè, Isabella Mammi, Monica Pedroni, Antonio Percesepe, Italo Sorrentini, Mariagrazia Tibiletti, Roberta Maestro, Michele Quaia, Alessandra Viel   +15 more
doaj   +1 more source

Duodenal carcinoma in MUTYH-associated polyposis [PDF]

Journal of Clinical Pathology, 2006
Bi-allelic germline mutations in the MUTYH gene give rise to multiple adenomas and an increased incidence of colorectal cancer. In addition, duodenal adenomas and other extra-colonic manifestations have been described in MUTYH-associated polyposis (MAP) patients. We describe two patients with bi-allelic MUTYH gene mutations with duodenal carcinoma. The
Nielsen, M., Poley, J. W., Verhoef, S., Van Puijenbroek, M., Weiss, M. M., Burger, G. T., Dommering, C. J., Vasen, H. F.A., Kuipers, E. J., Wagner, A., Morreau, H., Hes, F. J.   +11 more
openaire   +5 more sources

MUTYH and the mismatch repair system: partners in crime? [PDF]

Human Genetics, 2006
Biallelic germline mutations of MUTYH-a gene encoding a base excision repair protein-are associated with an increased susceptibility of colorectal cancer. Whether monoallelic MUTYH mutations also increase cancer risk is not yet clear, although there is some evidence suggesting a slight increase of risk.
Niessen, Renée C, Sijmons, Rolf H, Ou, J, Olthof, Sandra G M, Osinga, Jan, Ligtenberg, Marjolijn J, Hogervorst, Frans B L, Weiss, Marjan M, Tops, Carli M J, Hes, Frederik J, De Bock, Geertruida H, Buys, Charles H C M, Kleibeuker, Jan H, Hofstra, Robert M W   +13 more
openaire   +5 more sources

The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas

The Application of Clinical Genetics, 2023
Lisa Ximena Rodriguez-Rojas,1,2 Estephania Candelo,3,4 Harry Pachajoa,1,2,4 Juan Esteban Garcia-Robledo,3 Jose Antonio Nastasi-Catanese,1,2 Jorge Andres Olave-Rodriguez,2 Angela R Zambrano5 1Department of Human Genetics, Fundación Valle del Lili, Cali ...
Rodriguez-Rojas LX, Candelo E, Pachajoa H, Garcia-Robledo JE, Nastasi-Catanese JA, Olave-Rodriguez JA, Zambrano AR   +6 more
doaj  

Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations

The Turkish Journal of Gastroenterology, 2022
Background: Familial adenomatous polyposis (OMIM #175100) and MUTYH-associated polyposis (OMIM #608456) are rare cancerprone disorders characterized by hundreds of adenomatous polyps in the colon and rectum, which have a high probability of malignant ...
Esra Arslan Ateş, Ceren Alavanda, Şenol Demir, Çağlayan Keklikkıran, Wafi Attaallah, Osman Cavit Özdoğan, Ahmet İlter Güney   +6 more
doaj   +1 more source

Genetic variants in MUTYH are not associated with endometrial cancer risk

Hereditary Cancer in Clinical Practice, 2009
Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an autosomal dominant inherited predisposition to a number of epithelial cancers, most notably colorectal and endometrial cancer.
Ashton Katie A, Proietto Anthony, Otton Geoffrey, Symonds Ian, Scott Rodney J   +4 more
doaj   +1 more source

and polymorphisms are associated with susceptibility to osteoarthritis in the Chinese Han population

Journal of International Medical Research, 2018
Background This study analyzed the associations between single nucleotide polymorphisms (SNPs) in the mutY homolog gene ( MUTYH ) and the calcium release-activated calcium channel gene ( ORAI1 ) with susceptibility to osteoarthritis in the Chinese Han ...
Shifeng Zhang, Haohui Guo, Da Chen, Xi Chen, Qunhua Jin   +4 more
doaj   +1 more source

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