Results 41 to 50 of about 141,580 (256)

Modifiable risk factors for cancer among people with lynch syndrome: an international, cross-sectional survey

Hereditary Cancer in Clinical Practice
Background Lynch syndrome is the most common cause of hereditary colorectal and endometrial cancer. Lifestyle modification may provide an opportunity for adjunctive cancer prevention.
Robert F. Power, Damien E. Doherty, Roberta Horgan, Pat Fahey, David J. Gallagher, Maeve A. Lowery, Karen A. Cadoo   +6 more
doaj   +1 more source

Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation [PDF]

, 2018
Lynch syndrome is one of the most common hereditary colorectal cancer (CRC) syndrome and is caused by germline mutations of MLH1, MSH2 and more rarely MSH6, PMS2, MLH3 genes.
Benhattar, Jean, Bouzourene, Hanifa, Hutter, Pierre, Losi, Lorena, Martin, Patricia   +4 more
core  

Molecular pathology of Lynch syndrome [PDF]

The Journal of Pathology, 2020
AbstractLynch syndrome (LS) is characterised by predisposition to colorectal, endometrial, and other cancers and is caused by inherited pathogenic variants affecting the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2. It is probably the most common predisposition to cancer, having an estimated prevalence of between 1/100 and 1/180 ...
Guia Cerretelli, Ann Ager, Mark J Arends, Ian M Frayling   +3 more
openaire   +4 more sources

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +1 more source

Assessment and diagnosis of acute limb compartment syndrome: A literature review [PDF]

, 2014
Background: Compartment syndrome is a collection of symptoms that signal increased pressure in the muscle compartment and results in compromised tissue perfusion.
Ali, Parveen, Santy-Tomlinson, Julie, Watson, Roger   +2 more
core   +2 more sources

Prognostic Impact of Histologic Subtypes in Mismatch Repair‐Deficient/Microsatellite Instability‐High Colorectal Cancer: A Single‐Center Retrospective Study of 1127 Stage 0–IV Patients

Annals of Gastroenterological Surgery, EarlyView.
ABSTRACT Background Deficient mismatch repair/microsatellite instability‐High (dMMR/MSI‐H) colorectal cancer (CRC) generally confers a favorable survival yet is paradoxically enriched for poorly differentiated (Por) histology, which is linked to aggressive behavior.
Tomoyuki Momma, Hirokazu Okayama, Sohei Hayashishita, Hiroya Suzuki, Masanori Katagata, Takuro Matsumoto, Daisuke Ujiie, Shun Chida, Wataru Sakamoto, Koji Kono   +9 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Circulating metabolome landscape in Lynch syndrome

Cancer & Metabolism
Circulating metabolites systemically reflect cellular processes and can modulate the tissue microenvironment in complex ways, potentially impacting cancer initiation processes.
Tiina A. Jokela, Jari E. Karppinen, Minta Kärkkäinen, Jukka-Pekka Mecklin, Simon Walker, Toni T. Seppälä, Eija K. Laakkonen   +6 more
doaj   +1 more source

Genetic Counseling and Surveillance Focused on Lynch Syndrome

Journal of the Anus, Rectum and Colon, 2019
Lynch syndrome is a hereditary cancer syndrome caused by germline mutations in one of several DNA mismatch repair genes. Lynch syndrome leads to an increased lifetime risk of various cancers, particularly colorectal, and endometrial cancers.
Jin Yong Kim, Jeong-Sik Byeon
doaj   +1 more source

Epidemiology, genetics, and subtyping of preserved ratio impaired spirometry (PRISm) in COPDGene. [PDF]

, 2014
BackgroundPreserved Ratio Impaired Spirometry (PRISm), defined as a reduced FEV1 in the setting of a preserved FEV1/FVC ratio, is highly prevalent and is associated with increased respiratory symptoms, systemic inflammation, and mortality.
Beaty, Terri H, Castaldi, Peter J, Cho, Michael H, COPDGene Investigators, Crapo, James D, Curran-Everett, Douglas, Curtis, Jeffrey L, DeMeo, Dawn L, Han, MeiLan K, Hokanson, John E, Lynch, David A, Make, Barry J, Regan, Elizabeth A, Silverman, Edwin K, Wan, Emily S   +14 more
core   +2 more sources