Results 51 to 60 of about 32,048 (238)

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +1 more source

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers [PDF]

, 2010
Background: Reported prevalence, penetrance and expression of deleterious mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences in the clinical criteria used to select families for DNA testing.
Sjursen, Wenche, Haukanes, Bjørn Ivar, Grindedal, Eli Marie, Aarset, Harald, Stormorken, Astrid Tenden, Engebretsen, Lars Fredrik, Jonsrud, Christoffer, Bjørnevoll, Inga, Andresen, Per Arne, Ariansen, Sarah, Lavik, Liss Anne S., Gilde, Bodil, Bowitz-Lothe, Inger Marie, Mæhle, Lovise, Møller, Pål   +14 more
core   +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

Association between colorectal cancer, the frequency of Bacteroides fragilis, and the level of mismatch repair genes expression in the biopsy samples of Iranian patients

BMC Gastroenterology
Background Deficient DNA mismatch repair (MMR) can cause microsatellite instability (MSI) and is more common in colorectal cancer (CRC) patients.
Nooshin Nazarinejad, Bahareh Hajikhani, Amir Abbas Vaezi, Farzaneh Firoozeh, Fatemeh Sameni, Somayeh Yaslianifard, Mehdi Goudarzi, Masoud Dadashi   +7 more
doaj   +1 more source

Mismatch repair protein deficiency in endometriosis: Precursor of endometriosis-associated ovarian cancer in women with lynch syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We aimed to elucidate the pathogenesis of ovarian cancer through the loss of mismatch repair (MMR) proteins in women with Lynch syndrome (LS) in this report.
Munekage Yamaguchi, Yoshiki Mikami, Maki Kusunoki, Saori Yoshimura, Takeshi Motohara, Eiji Kondoh   +5 more
doaj   +1 more source

DNA repair: Disorders [PDF]

, 2010
No description ...
Bose, Burg, Caldecott, Chu, Digweed, Fernandez-Capetillo, Fousteri, Fousteri, Friedberg, Gudmundsdottir, Hashimoto, Hoeijmakers, Jiricny, Kraemer, Lavin, Lehmann, Lieber, Ma, Masutani, McCulloch, Meindl, Moldovan, Moshous, Nance, Nouspikel, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Rass, Stefanini, Stewart, Stracker, Taylor, Vaz, Wu, Zlatanou   +36 more
core   +1 more source

Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency [PDF]

Modern Pathology, 2013
Immunohistochemical staining for DNA mismatch repair proteins may be affected by various biological and technical factors. Staining variations that could potentially lead to erroneous interpretations have been recognized. A recently recognized staining variation is the significant reduction of staining for MSH6 in some colorectal carcinomas.
Jinru, Shia, Liying, Zhang, Moshe, Shike, Min, Guo, Zsofia, Stadler, Xiaoling, Xiong, Laura H, Tang, Efsevia, Vakiani, Nora, Katabi, Hangjun, Wang, Ruben, Bacares, Jeanine, Ruggeri, C Richard, Boland, Marc, Ladanyi, David S, Klimstra   +14 more
openaire   +2 more sources

Living at genetic risk: The patient experience of Lynch syndrome

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome is a germline cancer predisposition syndrome caused by a variant in one of four genes. Lynch syndrome places individuals at significantly higher risk for a range of cancers, especially colorectal and endometrial. Depending on which gene is affected, the risk of ovarian, gastric, small bowel, pancreatic, biliary urothelial, brain,
Nicola Reents, Georgina Hoffmann, Kelly Kohut   +2 more
wiley   +1 more source

GENETIC COUNSELOR UTILIZATION AND INTERPRETATION OF SOMATIC TUMOR TESTING IN EVALUATION FOR LYNCH SYNDROME [PDF]

, 2019
Lynch syndrome (LS) is a hereditary cancer predisposition syndrome characterized by increased risk for colorectal and uterine cancers. Individuals with pathogenic variants in the mismatch repair (MMR) genes (MLH1, MSH2/EPCAM, MSH6, PMS2) are diagnosed ...
Williams, Danielle
core   +1 more source

Mouse models of colorectal cancer. [PDF]

, 2011
Colorectal cancer is one of the most common malignancies in the world. Many mouse models have been developed to evaluate features of colorectal cancer in humans. These can be grouped into genetically-engineered, chemically-induced, and inoculated models.
Koeffler, H Phillip, Tong, Yunguang, Yang, Wancai   +2 more
core   +2 more sources