Results 41 to 50 of about 19,899 (215)

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer

Hereditary Cancer in Clinical Practice, 2010
Background Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer incidence is the same in families with mutations in MSH6 as in families with mutations in MLH1/MSH2 ...
Talseth-Palmer Bente A, McPhillips Mary, Groombridge Claire, Spigelman Allan, Scott Rodney J   +4 more
doaj   +1 more source

PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps

Global Medical Genetics, 2023
Background Lynch syndrome (LS) is an autosomal dominant condition due to the germline mutation in the mismatch repair (MMR) genes including MLH1, MSH2, MSH6, and PMS2 (post-meiotic segregation increased 2).
Henriette Poaty, Lauria Batamba Bouya, Aimé Lumaka, Arnaud Mongo-Onkouo, Deby Gassaye   +4 more
doaj   +1 more source

Cancer risk in PMS2 mutation carriers

, 2021
This study explores the risk of endometrialcancer and coloncancer in Norwegian PMS2 mutation ...
Hanne Kjensli Hyldebrandt
core   +1 more source

Diabetes mellitus impacts on expression of DNA mismatch repair protein PMS2 and tumor microenvironment in pancreatic ductal adenocarcinoma

Journal of Diabetes Investigation, 2023
Aims/Introduction The mismatch repair (MMR) protein recognizes DNA replication errors and plays an important role in tumorigenesis, including pancreatic ductal adenocarcinoma (PDAC).
Xuekai Pan, Hiroki Mizukami, Yutaro Hara, Takahiro Yamada, Keisuke Yamazaki, Kazuhiro Kudoh, Yuki Takeuchi, Takanori Sasaki, Hanae Kushibiki, Akiko Igawa, Kenichi Hakamada   +10 more
doaj   +1 more source

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

The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material [PDF]

, 2020
Germline variants in the DNA mismatch repair (MMR) gene PMS2 cause 1-14% of all Lynch Syndrome cancers. Correct variant analysis of PMS2 is complex due to the presence of multiple pseudogenes and the occurrence of gene conversion. The analysis complexity
Hans Morreau, Carli M. J. Tops, Maartje Nielsen, Ruano, D., Wijnen, J.T., Eijk, R. van, Anne M. L. Jansen, Tops, C.M.J., Hes, F.J., Jansen, A.M.L., Morreau, H., Dina Ruano, Ronald van Eijk, Sanne ten Broeke, Wezel, T. van, Tom van Wezel, Nielsen, M., Broeke, S. ten, Frederik J. Hes, Juul T. Wijnen   +19 more
core   +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

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

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