Results 31 to 40 of about 16,168 (189)

Pitfalls in the diagnosis of biallelic PMS2 mutations

Familial Cancer, 2015
Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome is an inherited childhood cancer syndrome due to bi-allelic mutations in one of the four DNA mismatch repair genes involved in Lynch syndrome. The tumor spectrum of this syndrome includes hematological, brain and Lynch syndrome associated malignancies, with an increased risk of synchronous and
Antelo, Marina, Milito, Daniela, Rhees, Jennifer, Roca, Enrique, Barugel, Miguel, Cuatrecasas, Miriam, Moreira, Leticia, Leoz, Maria Liz, Carballal, Sabela, Ocaña, Teresa, Pellisé, Maria, Castells, Antoni, Boland, C. Richard, Goel, Ajay, Balaguer, Francesc   +14 more
openaire   +3 more sources

PMS2-associated Lynch syndrome: Past, present and future

Frontiers in Oncology, 2023
Carriers of any pathogenic variant in one of the MMR genes (path_MMR carriers) were traditionally thought to be at comparable risk of developing a range of different malignancies, foremost colorectal cancer (CRC) and endometrial cancer. However, it is now widely accepted that their cancer risk and cancer spectrum range notably depending on which MMR ...
Katarina D. Andini, Maartje Nielsen, Manon Suerink, Noah C. Helderman, Jan Jacob Koornstra, Aysel Ahadova, Matthias Kloor, Marian J.E. Mourits, Klaas Kok, Rolf H. Sijmons, Sanne W. Bajwa–ten Broeke   +10 more
openaire   +3 more sources

Concurrent loss of MLH1, PMS2 and MSH6 immunoexpression in digestive system cancers indicating a widespread dysregulation in DNA repair processes

Frontiers in Oncology, 2022
Immunohistochemical analysis of mismatch repair (MMR) protein expression is widely used to identify tumors with a deficient MMR (dMMR). MMR proteins (MLH1/PMS2 and MSH2/MSH6) work as functional heterodimers, which usually leads to the loss of expression ...
Nic Gabriel Reitsam, Bruno Märkl, Sebastian Dintner, Johanna Waidhauser, Dmytro Vlasenko, Bianca Grosser   +5 more
doaj   +1 more source

MMR markers correlate with clinical outcome in patients with esophageal squamous cell carcinoma

The International Journal of Biological Markers, 2023
Background The DNA mismatch repair system is one of the defense mechanisms in the body, and the inactivation of mismatch repair plays a pivotal role in secondary carcinogenesis and progression.
Takuro Yamauchi, Fumiyoshi Fujishima, Junichi Tsunokake, Atsushi Kunimitsu, Ryujiro Akaishi, Yohei Ozawa, Toshiaki Fukutomi, Hiroshi Okamoto, Chiaki Sato, Yusuke Taniyama, Takashi Kamei, Ryo Ichinohasama, Hironobu Sasano   +12 more
doaj   +1 more source

Presencia de inestabilidad microsatélite en pacientes colombianos con adenocarcinoma colorrectal

Revista Colombiana de Gastroenterología, 2021
Introducción y objetivos: la vía de inestabilidad de microsatélites (IMS) está implicada en la carcinogénesis de un 15 % de carcinomas colorrectales (CCR).
Omar Alexis Gómez Rodríguez, Rafael Baracaldo Ayala, José Fernando Polo, Elizabeth Velasquez, Patricia López Correa, Rafael Parra Medina   +5 more
doaj   +1 more source

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.

PLoS ONE, 2014
BackgroundFriedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN gene, resulting in down-regulation of frataxin expression.
Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Pook   +5 more
doaj   +1 more source

The validity of immunohistochemistry in detecting microsatellite instability in pediatric solid neoplasms

Journal of Nature and Science of Medicine
Background: The DNA mismatch repair (MMR) is the biological pathway that plays a key role in maintaining genomic stability during DNA replication and recombination. The value of MMR pathway is under investigation in pediatrics' solid tumors.
Khaldoon Aljerian, Waleed AlRajban, Tariq Aljohani, Ali Alshehri, Omar Alsherif, Musa Alharbi, Ibraheem Abosoudah, Wasil Jastaniah, Saad Al Daama, Abdulrahman AlSultan, Nahaa Eid Alsubaie   +10 more
doaj   +1 more source

A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing

Cell Death and Disease, 2021
Hereditary non-polyposis colorectal cancer, now known as Lynch syndrome (LS) is one of the most common cancer predisposition syndromes and is caused by germline pathogenic variants (GPVs) in DNA mismatch repair (MMR) genes.
Kajal Biswas, Martin Couillard, Luca Cavallone, Sandra Burkett, Stacey Stauffer, Betty K. Martin, Eileen Southon, Susan Reid, Teri M. Plona, Ryan N. Baugher, Stephanie D. Mellott, Kristen M. Pike, Mary E. Albaugh, Chelsea Maedler-Kron, Nancy Hamel, Lino Tessarollo, Victoria Marcus, William D. Foulkes, Shyam K. Sharan   +18 more
doaj   +1 more source

Recurrent and founder mutations in the PMS2 gene [PDF]

Clinical Genetics, 2013
Germline mutations in PMS2 are associated with Lynch syndrome (LS), the most common known cause of hereditary colorectal cancer. Mutation detection in PMS2 has been difficult due to the presence of several pseudogenes, but a custom‐designed long‐range PCR strategy now allows adequate mutation detection. Many mutations are unique.
Tomsic, J, Senter, L, Liyanarachchi, S, Clendenning, M, Vaughn, CP, Jenkins, MA, Hopper, JL, Young, J, Samowitz, W, de la Chapelle, A   +9 more
openaire   +3 more sources

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon, Rui P. L. Neves, Nikolas H. Stoecklein, Sven‐Thorsten Liffers, Jens Siveke, Jan D. Kuhlmann, Pauline Wimberger, Paul Buderath, Rainer Kimmig, Sabine Kasimir‐Bauer   +9 more
wiley   +1 more source