Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Oncology"
DOI: 10.1001/jamaoncol.2017.0619
Abstract: Importance Lynch syndrome is caused by dominantly inherited germline mutations that predispose individuals to colorectal, endometrial, ovarian, and other cancers through inactivation of the cellular mismatch repair system. Lynch syndrome–associated cancers are amenable to surveillance… read more here.
Keywords: surveillance; age; endometrial cancer; cancer ... See more keywords
Cancer Risk in Families Fulfilling the Amsterdam Criteria for Lynch Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Oncology"
DOI: 10.1001/jamaoncol.2017.0769
Abstract: Importance The data describing cancer risks associated with Lynch syndrome are variable. Objectives To quantify the prevalence of families that fulfill the Amsterdam I or II criteria for Lynch syndrome in the Utah population and… read more here.
Keywords: risk; lynch syndrome; amsterdam criteria; smr ... See more keywords
Multi-omic analysis in normal colon organoids highlights MSH4 as a novel marker of defective mismatch repair in Lynch syndrome and microsatellite instability.
Sign Up to like & getrecommendations! Published in 2023 at "Cancer medicine"
DOI: 10.1002/cam4.6048
Abstract: INTRODUCTION Lynch syndrome (LS) is a hereditary condition that increases the risk of colorectal (CRC) and extracolonic cancers that exhibit microsatellite instability (MSI-H). MSI-H is driven by defective mismatch repair (dMMR), and approximately 15% of… read more here.
Keywords: normal colon; expression; colon organoids; lynch syndrome ... See more keywords
MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France
Sign Up to like & getrecommendations! Published in 2019 at "Genes"
DOI: 10.1002/gcc.22804
Abstract: Interpretation of missense variants remains a major challenge for genetic diagnosis, even in well‐known genes such as the DNA‐mismatch repair (MMR) genes involved in Lynch syndrome. We report the characterization of a variant in MSH2:… read more here.
Keywords: founder; variation; msh2 1022t; north france ... See more keywords
Three molecular pathways model colorectal carcinogenesis in Lynch syndrome
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Cancer"
DOI: 10.1002/ijc.31300
Abstract: Lynch syndrome is caused by germline mutations of DNA mismatch repair (MMR) genes. MMR deficiency has long been regarded as a secondary event in the pathogenesis of Lynch syndrome colorectal cancers. Recently, this concept has… read more here.
Keywords: colorectal carcinogenesis; carcinogenesis lynch; colorectal cancers; mmr deficiency ... See more keywords
Lynch‐like syndrome is as frequent as Lynch syndrome in early‐onset nonfamilial nonpolyposis colorectal cancer
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Cancer"
DOI: 10.1002/ijc.32160
Abstract: Early‐onset ( read more here.
Keywords: early onset; lynch; colorectal cancer; lynch like ... See more keywords
Distinct clinical phenotype and genetic testing strategy for Lynch syndrome in China based on a large colorectal cancer cohort
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Cancer"
DOI: 10.1002/ijc.32914
Abstract: Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) predisposition syndrome. We performed a large‐scale study to assess a screening strategy for identifying LS in Chinese CRC patients in routine clinical testing. A… read more here.
Keywords: colorectal cancer; cohort; testing strategy; cancer ... See more keywords
On the development of a neoantigen vaccine for the prevention of Lynch Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Cancer"
DOI: 10.1002/ijc.33971
Abstract: Lynch Syndrome (LS) is an autosomal dominant genetic condition that causes a high risk of colorectal cancer. The hallmark of LS is genetic instability as a result of mismatch repair (MMR) deficiency, particularly in repetitive… read more here.
Keywords: development neoantigen; neoantigen vaccine; lynch syndrome; syndrome ... See more keywords
Risk assessment and genetic counseling for Lynch syndrome – Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1546
Abstract: Identifying individuals who have Lynch syndrome involves a complex diagnostic workup that includes taking a detailed family history and a combination of various tests such as immunohistochemistry and/or molecular which may be germline and/or somatic.… read more here.
Keywords: practice resource; practice; genetic counselors; lynch syndrome ... See more keywords
Clinical Characteristics of Pancreatic and Biliary Tract Cancers Associated with Lynch Syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of hepato-biliary-pancreatic sciences"
DOI: 10.1002/jhbp.1063
Abstract: BACKGROUND/PURPOSE Pancreatic and biliary tract cancers are one of the Lynch syndrome-associated malignancies. There are few reports describing the patients' background and clinical characteristics. METHODS We retrospectively reviewed the medical records of patients with Lynch… read more here.
Keywords: biliary tract; pancreatic biliary; tract cancers; clinical characteristics ... See more keywords
Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1295
Abstract: Abstract Background Lynch syndrome (LS) is an autosomal‐dominant disorder that increases the risk of many cancers. The genetic basis of LS is germline mutations in DNA mismatch repair genes. Methods We performed next‐generation sequencing on… read more here.
Keywords: mlh1; genetic screening; identification novel; novel pathogenic ... See more keywords