دورية أكاديمية
The diverse molecular profiles of lynch syndrome-associated colorectal cancers are (highly) dependent on underlying germline mismatch repair mutations.
| العنوان: | The diverse molecular profiles of lynch syndrome-associated colorectal cancers are (highly) dependent on underlying germline mismatch repair mutations. |
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| المؤلفون: | Helderman NC; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Bajwa-Ten Broeke SW; Department of Clinical Genetics, UMC Groningen, the Netherlands., Morreau H; Department of Pathology, Leiden University Medical Centre, Leiden, the Netherlands., Suerink M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Terlouw D; Department of Pathology, Leiden University Medical Centre, Leiden, the Netherlands., van der Werf-' T Lam AS; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., van Wezel T; Department of Pathology, Leiden University Medical Centre, Leiden, the Netherlands., Nielsen M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands. Electronic address: m.nielsen@lumc.nl. |
| المصدر: | Critical reviews in oncology/hematology [Crit Rev Oncol Hematol] 2021 Jul; Vol. 163, pp. 103338. Date of Electronic Publication: 2021 May 25. |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Scientific Publishers Country of Publication: Netherlands NLM ID: 8916049 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0461 (Electronic) Linking ISSN: 10408428 NLM ISO Abbreviation: Crit Rev Oncol Hematol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2005->: Amsterdam : Elsevier Scientific Publishers Original Publication: Boca Raton, Fla. : CRC Press, 1983- |
| مواضيع طبية MeSH: | Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics , Neoplastic Syndromes, Hereditary*, DNA Mismatch Repair/genetics ; Germ Cells ; Germ-Line Mutation ; Humans |
| مستخلص: | Lynch syndrome (LS) is a hereditary cancer syndrome that accounts for 3% of all new colorectal cancer (CRC) cases. Patients carry a germline pathogenic variant in one of the mismatch repair (MMR) genes (MLH1, MSH2, MSH6 or PMS2), which encode proteins involved in a post-replicative proofreading and editing mechanism. The clinical presentation of LS is highly heterogeneous, showing high variability in age at onset and penetrance of cancer, which may be partly attributable to the molecular profiles of carcinomas. This review discusses the frequency of alterations in the WNT/B-CATENIN, RAF/MEK/ERK and PI3K/PTEN/AKT pathways identified in all four LS subgroups and how these changes may relate to the 'three pathway model' of carcinogenesis, in which LS CRCs develop from MMR-proficient adenomas, MMR-deficient adenomas or directly from MMR-deficient crypts. Understanding the specific differences in carcinogenesis for each LS subgroup will aid in the further optimization of guidelines for diagnosis, surveillance and treatment. (Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Colorectal cancer; Lynch syndrome; Mismatch repair; Molecular profile |
| تواريخ الأحداث: | Date Created: 20210527 Date Completed: 20210713 Latest Revision: 20210713 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1016/j.critrevonc.2021.103338 |
| PMID: | 34044097 |
| قاعدة البيانات: | MEDLINE |
Full Text via ClinicalKey 
Full Text Finder | تدمد: | 1879-0461 |
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| DOI: | 10.1016/j.critrevonc.2021.103338 |