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FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum Mol Genet. 2015 Sep 15;24(18):5345-55. doi: 10.1093/hmg/ddv251. Epub 2015 Jun 30.
Hum Mol Genet. 2015.
PMID: 26130695
Free PMC article.
MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.
Zorcolo L, Fantola G, Balestrino L, Restivo A, Vivanet C, Spina F, Cabras F, Ambu R, Casula G.
Zorcolo L, et al. Among authors: vivanet c.
Tumori. 2011 Sep-Oct;97(5):676-80. doi: 10.1177/030089161109700523.
Tumori. 2011.
PMID: 22158503
Review.
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Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement.
Urso EDL, Ponz de Leon M, Vitellaro M, Piozzi GN, Bao QR, Martayan A, Remo A, Stigliano V, Oliani C, Lucci Cordisco E, Pucciarelli S, Ranzani GN, Viel A; AIFEG group.
Urso EDL, et al.
Dig Liver Dis. 2021 Apr;53(4):409-417. doi: 10.1016/j.dld.2020.11.018. Epub 2021 Jan 25.
Dig Liver Dis. 2021.
PMID: 33504457
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Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Guglielmi C, Scarpitta R, Gambino G, Conti E, Bellè F, Tancredi M, Cervelli T, Falaschi E, Cosini C, Aretini P, Congregati C, Marino M, Patruno M, Pilato B, Spina F, Balestrino L, Tenedini E, Carnevali I, Cortesi L, Tagliafico E, Tibiletti MG, Tommasi S, Ghilli M, Vivanet C, Galli A, Caligo MA.
Guglielmi C, et al. Among authors: vivanet c.
Int J Mol Sci. 2021 Jul 19;22(14):7693. doi: 10.3390/ijms22147693.
Int J Mol Sci. 2021.
PMID: 34299313
Free PMC article.
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Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: a retrospective study in a sample of Italian cancer genetics clinics.
Varesco L, Viassolo V, Viel A, Gismondi V, Radice P, Montagna M, Alducci E, Della Puppa L, Oliani C, Tommasi S, Caligo MA, Vivanet C, Zuradelli M, Mandich P, Tibiletti MG, Cavalli P, Lucci Cordisco E, Turchetti D, Boggiani D, Bracci R, Bruzzi P, Bonelli L.
Varesco L, et al. Among authors: vivanet c.
Breast. 2013 Dec;22(6):1130-5. doi: 10.1016/j.breast.2013.07.053. Epub 2013 Sep 5.
Breast. 2013.
PMID: 24011770
Free article.
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A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.
Borelli I, Barberis MA, Spina F, Casalis Cavalchini GC, Vivanet C, Balestrino L, Micheletti M, Allavena A, Sala P, Carcassi C, Pasini B.
Borelli I, et al. Among authors: vivanet c.
Eur J Hum Genet. 2013 Feb;21(2):154-61. doi: 10.1038/ejhg.2012.150. Epub 2012 Jul 11.
Eur J Hum Genet. 2013.
PMID: 22781090
Free PMC article.
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