Results 41 to 50 of about 34,914 (256)

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

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

Lynch syndrome screening in colorectal cancer: results of a prospective 2‐year regional programme validating the NICE diagnostics guidance pathway throughout a 5.2‐million population [PDF]

, 2021
Nicholas P. West, Niall Gallop, Danny Kaye, Amy Glover, Caroline Young, Gordon Hutchins, Scarlet Brockmoeller, Alice C. Westwood, Hannah Rossington, Philip Quirke   +9 more
openalex   +1 more source

Organ‐sparing strategies in patients with MSI/dMMR tumors including Lynch syndrome: Current state of the art and future perspectives for clinical decision‐making

International Journal of Cancer, EarlyView.
Abstract Deficiency in DNA mismatch repair (dMMR) is a common pathway of carcinogenesis across different tumor types and confers a characteristic microsatellite instability‐high (MSI‐H) molecular phenotype. The MSI‐H/dMMR phenotype may arise from an inherited pathogenic variant in the context of Lynch syndrome and is most frequently observed in ...
Martin Duval, Antoine Dardenne, Thomas Samaille, Leo Mas, Jérémie H. Lefèvre, Xavier Dray, Mathilde Wagner, Romain Cohen, Thierry André   +8 more
wiley   +1 more source

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome. [PDF]

Int J Cancer
Kauppinen AK, Olkinuora AP, Mecklin JP, Peltomäki PT.   +3 more
europepmc   +3 more sources

External validation of calculator for cesarean delivery during induction of labor

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To validate a published risk calculator to predict cesarean delivery (CD) among singletons undergoing induction of labor. Methods Our retrospective cohort study included singletons undergoing induction of labor. A predicted CD score was calculated for each individual based on a previously developed calculator.
Claudia J. Ibarra, Rachel L. Wiley, Han‐Yang Chen, Estefania Guthrie, Ipsita Ghose, Hector Mendez‐Figueroa, Suneet P. Chauhan   +6 more
wiley   +1 more source

Colorectal Carcinoma in a Young Male Diagnosed as Lynch Syndrome with a Rare PMS2 Pathogenic Germline Variant: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Colorectal cancers in young people can be due to inherited mutations in 5-10% of cases, among which Lynch syndrome is the most common. Lynch syndrome is defined as a genetic susceptibility to various types of cancer, with non polyposis colorectal cancer ...
Vijayashree S Gokhale, Vineetha Naga Lakshmi Giduturi, Mahabir Prasad Mishra, Mayur Ambekar, Dnyanada Shrirang Gokhale-Agashe   +4 more
doaj   +1 more source

Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer

Hereditary Cancer in Clinical Practice, 2021
Background Lynch syndrome is caused by germline mutations in the mismatch repair genes and is characterised by a familial accumulation of colorectal and other cancers.
Sophie Walton Bernstedt, Jan Björk, Kaisa Fritzell, Allan D. Spigelman, Erik Björck, Ann-Sofie Backman   +5 more
doaj   +1 more source

A DNA methylation assay (MPap) using self‐collected tampon versus cytology collection swab for endometrial cancer detection

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To evaluate the practicability of self‐collected tampons with the MPap assay for endometrial cancer (EC) detection, by comparing with the results of cervical swabs. Methods A total of 85 women at Tri‐Service General Hospital (TSGH) were included to directly compare the performance of physician‐collected swabs and self‐collected ...
Kuo‐Min Su, Kuo‐Chang Wen, Yi‐Hsin Lin, Po‐Hsuan Su, Lin‐Yu Chen, Hung Cheng Lai   +5 more
wiley   +1 more source

Current Hypotheses on How Microsatellite Instability Leads to Enhanced Survival of Lynch Syndrome Patients

Clinical and Developmental Immunology, 2010
High levels of microsatellite instability (MSI-high) are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival
Kristen M. Drescher, Poonam Sharma, Henry T. Lynch   +2 more
doaj   +1 more source