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Germinal BRCA1-2 pathogenic variants (gBRCA1-2pv) and pancreatic cancer: epidemiology of an Italian patient cohort.
Peretti U, Cavaliere A, Niger M, Tortora G, Di Marco MC, Rodriquenz MG, Centonze F, Rapposelli IG, Giordano G, De Vita F, Stuppia L, Avallone A, Ratti M, Paratore C, Forti LG, Orsi G, Valente MM, Gaule M, Macchini M, Carrera P, Calzavara S, Simbolo M, Melisi D, De Braud F, Salvatore L, De Lorenzo S, Chiarazzo C, Falconi M, Cascinu S, Milella M, Reni M. Peretti U, et al. Among authors: stuppia l. ESMO Open. 2021 Feb;6(1):100032. doi: 10.1016/j.esmoop.2020.100032. Epub 2021 Jan 4. ESMO Open. 2021. PMID: 33399070 Free PMC article.
Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: a retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer.
Antonucci I, Provenzano M, Sorino L, Balsamo M, Aceto GM, Battista P, Euhus D, Cianchetti E, Ballerini P, Natoli C, Palka G, Stuppia L. Antonucci I, et al. Among authors: stuppia l. J Hum Genet. 2017 Mar;62(3):379-387. doi: 10.1038/jhg.2016.138. Epub 2016 Dec 8. J Hum Genet. 2017. PMID: 27928164
BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND).
Lombardi L, Trumello C, Stuppia L, Antonucci I, Brandão T, Babore A. Lombardi L, et al. Among authors: stuppia l. J Assist Reprod Genet. 2022 Jul;39(7):1433-1443. doi: 10.1007/s10815-022-02523-y. Epub 2022 Jun 4. J Assist Reprod Genet. 2022. PMID: 35661074 Free PMC article. Review.
Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.
Aceto G, Curia MC, Veschi S, De Lellis L, Mammarella S, Catalano T, Stuppia L, Palka G, Valanzano R, Tonelli F, Casale V, Stigliano V, Cetta F, Battista P, Mariani-Costantini R, Cama A. Aceto G, et al. Among authors: stuppia l. Hum Mutat. 2005 Oct;26(4):394. doi: 10.1002/humu.9370. Hum Mutat. 2005. PMID: 16134147
362 results