Immunohistochemistry and RNA-sequencing have been useful in evaluating the pathological significance of a non-consensus site intronic variant in suspected cases of Lynch syndrome
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Publisher
Springer Science and Business Media LLC
Link
http://link.springer.com/content/pdf/10.1007/s13691-021-00474-2.pdf
Reference11 articles.
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2. Hampel H, Frankel WL, Martin E et al (2005) Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 352:1851–1860
3. Tamura K, Kaneda M, Futagawa M et al (2019) Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome. Int J Clin Oncol 24:999–1011
4. Piñero TA, Soukarieh O, Rolain M et al (2020) MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing. Fam Cancer. https://doi.org/10.1007/s10689-020-00182-5
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1. From genetic analysis to precision medicine;International Cancer Conference Journal;2021-06-11
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