دورية أكاديمية
PMS2-associated Lynch syndrome: Past, present and future.
| العنوان: | PMS2-associated Lynch syndrome: Past, present and future. |
|---|---|
| المؤلفون: | Andini KD; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands., Nielsen M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Suerink M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Helderman NC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands., Koornstra JJ; Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands., Ahadova A; Department of Applied Tumour Biology, Institute of Pathology, Heidelberg University Hospital, and Clinical Cooperation Unit Applied Tumor Biology, German Cancer Research Center, Heidelberg, Germany., Kloor M; Department of Applied Tumour Biology, Institute of Pathology, Heidelberg University Hospital, and Clinical Cooperation Unit Applied Tumor Biology, German Cancer Research Center, Heidelberg, Germany., Mourits MJE; Department of Gynaecology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands., Kok K; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands., Sijmons RH; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands., Bajwa-Ten Broeke SW; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands. |
| المصدر: | Frontiers in oncology [Front Oncol] 2023 Feb 21; Vol. 13, pp. 1127329. Date of Electronic Publication: 2023 Feb 21 (Print Publication: 2023). |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101568867 Publication Model: eCollection Cited Medium: Print ISSN: 2234-943X (Print) Linking ISSN: 2234943X NLM ISO Abbreviation: Front Oncol Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: [Lausanne : Frontiers Research Foundation] |
| مستخلص: | Carriers of any pathogenic variant in one of the MMR genes ( path_MMR carriers) were traditionally thought to be at comparable risk of developing a range of different malignancies, foremost colorectal cancer (CRC) and endometrial cancer. However, it is now widely accepted that their cancer risk and cancer spectrum range notably depending on which MMR gene is affected. Moreover, there is increasing evidence that the MMR gene affected also influences the molecular pathogenesis of Lynch syndrome CRC. Although substantial progress has been made over the past decade in understanding these differences, many questions remain unanswered, especially pertaining to path _ PMS2 carriers. Recent findings show that, while the cancer risk is relatively low, PMS2-deficient CRCs tend to show more aggressive behaviour and have a worse prognosis than other MMR-deficient CRCs. This, together with lower intratumoral immune infiltration, suggests that PMS2-deficient CRCs might have more in common biologically with sporadic MMR-proficient CRCs than with other MMR-deficient CRCs. These findings could have important consequences for surveillance, chemoprevention and therapeutic strategies (e.g. vaccines). In this review we discuss the current knowledge, current (clinical) challenges and knowledge gaps that should be targeted by future studies. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2023 Andini, Nielsen, Suerink, Helderman, Koornstra, Ahadova, Kloor, Mourits, Kok, Sijmons and Bajwa–ten Broeke.) |
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| فهرسة مساهمة: | Keywords: Lynch syndrome (hereditary nonpolyposis colorectal cancer); PMS2 gene; carcinonogenesis; colorectal cancer; endometrial cancer; mismatch repair (MMR) |
| تواريخ الأحداث: | Date Created: 20230310 Latest Revision: 20230311 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC9989154 |
| DOI: | 10.3389/fonc.2023.1127329 |
| PMID: | 36895471 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2234-943X |
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| DOI: | 10.3389/fonc.2023.1127329 |