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MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
Fam Cancer. 2020 Oct;19(4):323-336. doi: 10.1007/s10689-020-00182-5.
Fam Cancer. 2020.
PMID: 32363481
Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.
Felix GES, Guindalini RSC, Zheng Y, Walsh T, Sveen E, Lopes TMM, Côrtes J, Zhang J, Carôzo P, Santos I, Bonfim TF, Garicochea B, Toralles MBP, Meyer R, Netto EM, Abe-Sandes K, King MC, de Oliveira Nascimento IL, Olopade OI.
Felix GES, et al. Among authors: de oliveira nascimento il.
Breast Cancer Res Treat. 2022 Jun;193(2):485-494. doi: 10.1007/s10549-022-06560-0. Epub 2022 Mar 30.
Breast Cancer Res Treat. 2022.
PMID: 35353237
Free PMC article.
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Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement.
Møller P, Seppälä TT, Ahadova A, Crosbie EJ, Holinski-Feder E, Scott R, Haupt S, Möslein G, Winship I, Broeke SWB, Kohut KE, Ryan N, Bauerfeind P, Thomas LE, Evans DG, Aretz S, Sijmons RH, Half E, Heinimann K, Horisberger K, Monahan K, Engel C, Cavestro GM, Fruscio R, Abu-Freha N, Zohar L, Laghi L, Bertario L, Bonanni B, Tibiletti MG, Lino-Silva LS, Vaccaro C, Valle AD, Rossi BM, da Silva LA, de Oliveira Nascimento IL, Rossi NT, Dębniak T, Mecklin JP, Bernstein I, Lindblom A, Sunde L, Nakken S, Heuveline V, Burn J, Hovig E, Kloor M, Sampson JR, Dominguez-Valentin M; Prospective Lynch Syndrome Database (www.plsd.eu) and The European Hereditary Tumour Group (www.ehtg.org).
Møller P, et al. Among authors: de oliveira nascimento il.
Hered Cancer Clin Pract. 2023 Oct 11;21(1):19. doi: 10.1186/s13053-023-00263-3.
Hered Cancer Clin Pract. 2023.
PMID: 37821984
Free PMC article.
Review.
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