التفاصيل البيبلوغرافية
العنوان:
Molecular pathology of Lynch Syndrome
المؤلفون:
Guia Cerretelli , Ann Ager , Mark J. Arends , Ian M. Frayling
المصدر:
Cerretelli, G, Ager, A, Arends, M & Frayling, I M 2020, ' Molecular Pathology of Lynch Syndrome ', The Journal of Pathology . https://doi.org/10.1002/path.5422
بيانات النشر:
Wiley, 2020.
سنة النشر:
2020
مصطلحات موضوعية:
0301 basic medicine , congenital, hereditary, and neonatal diseases and abnormalities , Colorectal cancer , MLH1 , DNA Mismatch Repair , Pathology and Forensic Medicine , 03 medical and health sciences , 0302 clinical medicine , PMS2 , Humans , Medicine , Genetic Predisposition to Disease , Pathology, Molecular , business.industry , Endometrial cancer , Cancer , medicine.disease , Colorectal Neoplasms, Hereditary Nonpolyposis , Lynch syndrome , digestive system diseases , Endometrial Neoplasms , DNA-Binding Proteins , MSH6 , 030104 developmental biology , MSH2 , 030220 oncology & carcinogenesis , Cancer research , Female , business
الوصف:
Lynch 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. Resources such as the International Society for Gastrointestinal Hereditary Cancer's MMR gene variant database, the Prospective Lynch Syndrome Database (PLSD), and the Colon Cancer Family Register (CCFR), as well as pathological and immunological studies, are enabling advances in the understanding of LS. These include defined criteria by which to interpret gene variants, the function of MMR in the normal control of apoptosis, definition of the risks of the various cancers, and the mechanisms and pathways by which the colorectal and endometrial tumours develop, including the critical role of the immune system. Colorectal cancers in LS can develop along three pathways, including flat intramucosal lesions, which depend on the underlying affected MMR gene. This gives insights into the limitations of colonoscopic surveillance and highlights the need for other forms of anti-cancer prophylaxis in LS. Finally, it shows that the processes of autoimmunisation and immunoediting fundamentally constrain the development of tumours in LS and explain the efficacy of immune checkpoint blockade therapy in MMR-deficient tumours. © 2020 Pathological Society of Great Britain and Ireland. Published by John WileySons, Ltd.
وصف الملف:
application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
اللغة:
English
تدمد:
0022-3417
DOI:
10.1002/path.5422
URL الوصول:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da04e7329d7fb6933c5cc3b653f482d3 https://orca.cardiff.ac.uk/id/eprint/130463/1/MolPathLynchSyndrome_JPathReviewARI_v14.pdf
Rights:
OPEN
رقم الانضمام:
edsair.doi.dedup.....da04e7329d7fb6933c5cc3b653f482d3
قاعدة البيانات:
OpenAIRE