MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing-Reference-Cited by-同舟云学术

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MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing

Published:2020-05-04 Issue:4 Volume:19 Page:323-336
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Piñero Tamara Alejandra^ORCID,Soukarieh Omar^ORCID,Rolain Marion,Alvarez Karin,López-Köstner Francisco,Torrezan Giovana Tardin^ORCID,Carraro Dirce Maria,De Oliveira Nascimento Ivana Lucia,Bomfim Thaís Ferreira,Machado-Lopes Taísa Manuela Bonfim^ORCID,Freitas Juliana Côrtes,Toralles Maria Betânia,Sandes Kiyoko Abe,Rossi Benedito Mauro^ORCID,Junior Samuel Aguiar^ORCID,Meira Joanna^ORCID,Dominguez-Valentin Mev^ORCID,Møller Pål,Vaccaro Carlos Alberto^ORCID,Martins Alexandra^ORCID,Pavicic Walter Hernán^ORCID

Funder

Radium Hospital Foundation

Norwegian Cancer Society

Agencia Nacional de Promoción Científica y Tecnológica

Instituto Nacional del Cáncer

Fundação de Amparo à Pesquisa do Estado de São Paulo

Groupement des Entreprise Françaises dans la Lutte contre le Cancer (Gefluc), and co-supported by the European Union and Région Normandie

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics(clinical),Oncology,Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10689-020-00182-5.pdf

Reference46 articles.

1. Carethers JM, Stoffel EM (2015) Lynch syndrome and Lynch syndrome mimics: the growing complex landscape of hereditary colon cancer. World J Gastroenterol 21:9253–9261. https://doi.org/10.3748/wjg.v21.i31.9253

2. Aarnio M, Sankila R, Pukkala E et al (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81:214–218

3. Engel C, Loeffler M, Steinke V et al (2012) Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol 30:4409–4415. https://doi.org/10.1200/JCO.2012.43.2278

4. Dominguez-Valentin M, Sampson JR, Seppälä TT et al (2020) Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. Genet Med 22:15–25. https://doi.org/10.1038/s41436-019-0596-9

5. Lynch HT, Lanspa S, Shaw T et al (2017) Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge. Fam Cancer. https://doi.org/10.1007/s10689-017-0053-3

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2. RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome;Frontiers in Pediatrics;2022-02-02

3. 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;International Cancer Conference Journal;2021-03-06

4. Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry;Journal of Clinical Medicine;2020-06-15

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