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Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer.
Chen OJ, Castellsagué E, Moustafa-Kamal M, Nadaf J, Rivera B, Fahiminiya S, Wang Y, Gamache I, Pacifico C, Jiang L, Carrot-Zhang J, Witkowski L, Berghuis AM, Schönberger S, Schneider D, Hillmer M, Bens S, Siebert R, Stewart CJR, Zhang Z, Chao WCH, Greenwood CMT, Barford D, Tischkowitz M, Majewski J, Foulkes WD, Teodoro JG. Chen OJ, et al. Among authors: castellsague e. Cancer Res. 2022 Oct 4;82(19):3499-3515. doi: 10.1158/0008-5472.CAN-21-3956. Cancer Res. 2022. PMID: 35913887
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD. Witkowski L, et al. Among authors: castellsague e. Nat Genet. 2014 May;46(5):438-43. doi: 10.1038/ng.2931. Epub 2014 Mar 23. Nat Genet. 2014. PMID: 24658002
Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.
Castellsagué E, Liu J, Volenik A, Giroux S, Gagné R, Maranda B, Roussel-Jobin A, Latreille J, Laframboise R, Palma L, Kasprzak L, Marcus VA, Breguet M, Nolet S, El-Haffaf Z, Australie K, Gologan A, Aleynikova O, Oros-Klein K, Greenwood C, Mes-Masson AM, Provencher D, Tischkowitz M, Chong G, Rousseau F, Foulkes WD. Castellsagué E, et al. Clin Genet. 2015 Jun;87(6):536-42. doi: 10.1111/cge.12526. Epub 2014 Nov 22. Clin Genet. 2015. PMID: 25318681
Lynch syndrome: five unanswered questions.
Castellsagué E, Foulkes WD. Castellsagué E, et al. Clin Genet. 2015 Jun;87(6):503-6. doi: 10.1111/cge.12580. Clin Genet. 2015. PMID: 25737380 Review. No abstract available.
Colorectal Adenomas.
Castellsagué E, Rivera B, Foulkes WD. Castellsagué E, et al. N Engl J Med. 2016 Jul 28;375(4):389. doi: 10.1056/NEJMc1604867. N Engl J Med. 2016. PMID: 27464216 No abstract available.
Allele-specific expression of APC in adenomatous polyposis families.
Castellsagué E, González S, Guinó E, Stevens KN, Borràs E, Raymond VM, Lázaro C, Blanco I, Gruber SB, Capellá G. Castellsagué E, et al. Gastroenterology. 2010 Aug;139(2):439-47, 447.e1. doi: 10.1053/j.gastro.2010.04.047. Epub 2010 Apr 29. Gastroenterology. 2010. PMID: 20434453 Free PMC article.
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