A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Genetics (clinical),Oncology,Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10689-022-00323-y.pdf
Reference12 articles.
1. Lynch HT, Snyder CL, Shaw TG et al (2015) Milestones of Lynch syndrome: 1895–2015. Nat Rev Cancer 15:181–194. https://doi.org/10.1038/nrc3878
2. Aaltonen LA, Peltomäki P, Mecklin JP et al (1994) Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res 54:1645–1648
3. Win AK, Jenkins MA, Dowty JG et al (2017) Prevalence and penetrance of major genes and polygenes for Colorectal Cancer. Cancer Epidemiol Biomarkers Prev 26:404–412. https://doi.org/10.1158/1055-9965.EPI-16-0693
4. Wang Q, Leclerc J, Bougeard G et al (2020) Characterisation of heterozygous PMS2 variants in french patients with Lynch syndrome. J Med Genet 57:487–499. https://doi.org/10.1136/jmedgenet-2019-106256
5. Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30
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