The genetic basis of Lynch syndrome and its implications for clinical practice and risk management
The Application of Clinical Genetics, 2014 Stephanie A Cohen,1 Anna Leininger2 1Cancer Genetics Risk Assessment Program, St Vincent Health, Indianapolis, IN, USA; 2Minnesota Oncology, Woodbury, MN, USA Abstract: Lynch syndrome is the most common cause of hereditary colon cancer, and accounts for
Cohen SA, Leininger A
doaj
Biomédica: revista del Instituto Nacional de Salud, 2005 Introducción. El cáncer colorrectal es la segunda causa de morbilidad y mortalidad por cáncer en los países desarrollados. En Colombia es la quinta causa de muerte entre los diferentes cánceres.
Andrea Gómez +11 more
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Molecular analysis of Iranian colorectal cancer patients at risk for Lynch syndrome: a new molecular, clinicopathological feature. [PDF]
, 2015 PURPOSE Microsatellite instability (MSI) and mismatch repair (MMR) gene expression present a hallmark mutational signature of Lynch syndrome as a common hereditary cancer predisposing condition.
Emami, Mohammad Hassan. +5 more
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FEBS Letters, Volume 599, Issue 7, Page 1006-1028, April 2025.This study explores the distinct molecular mechanisms underlying Lynch syndrome‐associated and sporadic colorectal cancer (CRC). By highlighting the therapeutic potential of targeting the PI3K‐Akt pathway in Lynch syndrome‐associated CRC and the Wnt pathway in sporadic CRC, the findings open avenues for personalised treatment strategies, aiming to ...
May J. Krause +2 more
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Gynecologic Oncology Reports, 2018 Sebaceous carcinomas are rare tumors, with the majority of described cases occurring within the eyelid. To date, there are nine documented reports of sebaceous carcinoma arising within a mature cystic teratoma of the ovary. Although the majority of cases
Alyssa Wield +5 more
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Patient responses to genetic information: Studies of patients with hereditary cancer syndromes identify issues for use of genetic testing in nephrology practice [PDF]
, 2010 Advances in the genetic basis of kidney disease may mean that genetic testing is increasingly important in reducing disease morbidity and mortality among patients.
Kaphingst, Kimberly A +1 more
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MSH3 protein expression and nodal status in MLH1-deficient colorectal cancers. [PDF]
, 2012 View the MathML source: Colorectal tumors manifesting high-frequency microsatellite instability (MSI-H) develop genetically as a consequence of mutations in genes harboring repetitive DNA sequences.
Bianchi, P +10 more
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Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers [PDF]
, 2017 Until recently, no prediction models for Lynch syndrome (LS) had been validated for PMS2 mutation carriers. We aimed to evaluate MMRpredict and PREMM5 in a clinical cohort and for PMS2 mutation carriers specifically.
Bruno, M.J. (Marco) +11 more
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The story of hereditary nonpolyposis colorectal cancer: celebrating the spirit of investigation. [PDF]
IGIE, 2023 Lynch PM, Ge PS.
europepmc +1 more source
Evaluation of MT1XT20 single quasi-monomorphic mononucleotide marker for characterizing microsatellite instability in persian lynch syndrome patients [PDF]
, 2016 Background: Colorectal malignancies with high microsatellite instability (MSI-H), either hereditary (Lynch syndrome) or sporadic, demonstrate better prognosis and altered response to 5FU chemotherapy.
Emami, Mohammad Hassan. +6 more
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