Results 51 to 60 of about 2,530,443 (206)

Mismatch repair enzyme expression in primary and castrate resistant prostate cancer

Asian Journal of Urology, 2016
Objective: Although the utility of immunohistochemistry (IHC) for assessing mismatch repair (MMR) protein expression has been demonstrated in solid tumors including primary prostate cancer (PCa), its utility has not been assessed in castration-resistant ...
Belinda Nghiem, Xiaotun Zhang, Hung-Ming Lam, Lawrence D. True, Ilsa Coleman, Celestia S. Higano, Peter S. Nelson, Colin C. Pritchard, Colm Morrissey   +8 more
doaj   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Polymorphism of DNA repair system protein genes and its association with chronic viral hepatitis C

Инфекция и иммунитет
Hepatitis C is an infectious disease that causes liver inflammation and often leads to a chronic process. The genes encoding proteins involved in DNA repair systems participate in developing immune responses and inflammation, making them promising ...
Nadezhda P. Babushkina, V. E. Shavrak, I. A. Goncharova, E. V. Beloborodova   +3 more
doaj   +1 more source

Genetic anticipation in Swedish Lynch syndrome families.

PLoS Genetics, 2017
Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common.
Jenny von Salomé, Philip S Boonstra, Masoud Karimi, Gustav Silander, Marie Stenmark-Askmalm, Samuel Gebre-Medhin, Christos Aravidis, Mef Nilbert, Annika Lindblom, Kristina Lagerstedt-Robinson   +9 more
doaj   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Association of expression of inflammatory response genes and DNA repair genes in colorectal carcinoma

Tumor Biology, 2019
Inflammation is an important etiological factor of colorectal carcinoma and may be related to colorectal carcinoma growth and proliferation. This study aimed to verify whether the presence of chronic inflammation represented by tumor necrosis factor-α ...
Demétrius Eduardo Germini, Maria Isete Fares Franco, Fernando Luiz Affonso Fonseca, Flávia de Sousa Gehrke, Beatriz da Costa Aguiar Alves Reis, Leonardo Cardili, Celina Tizuko Fujiyama Oshima, Thérèse Rachell Theodoro, Jaques Waisberg   +8 more
doaj   +1 more source

A case of Turcot’s syndrome type 1 with loss of immunoexpression of MSH6 in colon cancer and liver metastasis due to secondary somatic mutation in coding mononucleotide (C)8 tract: a case report

BMC Medical Genetics, 2020
Background Lynch syndrome (LS), which is known as a hereditary cancer syndrome, is distinguished by microsatellite instability, represented by the altered number of repetitive sequences in the coding and/or non-coding region. Immunohistochemical staining
Shintaro Akabane, Takao Hinoi, Kiwamu Akagi, Hideki Yamamoto, Haruki Sada, Yosuke Shimizu, Wataru Shimizu, Takeshi Sudo, Takashi Onoe, Kohei Ishiyama, Takahisa Suzuki, Hirofumi Tazawa, Naoto Hadano, Toshihiro Misumi, Masato Kojima, Haruna Kubota, Daiki Taniyama, Kazuya Kuraoka, Hirotaka Tashiro   +18 more
doaj   +1 more source

Colorectal Cancer Screening in Hereditary and Familial High‐Risk Populations: Best Practices and Future Directions

International Journal of Cancer, EarlyView.
ABSTRACT Colorectal cancer (CRC) remains a leading cause of cancer‐related morbidity and mortality worldwide yet is largely preventable through effective screening and surveillance. While most CRC cases are sporadic, a substantial proportion occur in individuals at increased risk due to hereditary cancer syndromes or family history who require tailored
Ophir Gilad, Francesc Balaguer, Elizabeth E. Half, Kevin J. Monahan, Elena M. Stoffel, Sonia S. Kupfer   +5 more
wiley   +1 more source

NTRK gene rearrangements are highly enriched in MLH1/PMS2 deficient, BRAF wild-type colorectal carcinomas-a study of 4569 cases.

, 2021
NTRK gene rearrangements are important to identify as predictors of response to targeted therapy in many malignancies. Only 0.16-0.3% of colorectal carcinomas (CRCs) harbor these fusions making universal screening difficult.
Sheen, A, Singh, N, Sioson, L, Ahadi, M, Fuchs, T, Chou, A, Corless, CL, Fraser, T, Gill, AJ, Clarkson, A   +9 more
core   +1 more source

Untersuchung des Gens PMS2 und des Pseudogens PMS2CL bei Patienten mit HNPCC [PDF]

, 2022
Background: The hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) is the most frequent hereditary colorectal cancer syndrome. It has been associated with different types of cancers besides the early onset of the disease.
Andres, Friederike
core   +3 more sources