Giovanna Bianchi-Scarra
Overview
Explore the profile of Giovanna Bianchi-Scarra including associated specialties, affiliations and a list of published articles.
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38
Citations
1258
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Recent Articles
1.
Functional analysis of a CDKN2A 5'UTR germline variant associated with pancreatic cancer development
Bruno W, Andreotti V, Bisio A, Pastorino L, Fornarini G, Sciallero S, et al.
PLoS One
. 2017 Dec;
12(12):e0189123.
PMID: 29216274
CDKN2A coding region germline variants are associated with pancreatic adenocarcinoma (PC) susceptibility. Recently, we described functional germline 5'UTR CDKN2A variants from melanoma patients affecting the post-transcriptional regulation of p16INK4a mRNA...
2.
Bruno W, Martinuzzi C, Andreotti V, Pastorino L, Spagnolo F, Dalmasso B, et al.
Oncotarget
. 2017 Jan;
8(5):8069-8082.
PMID: 28039443
Finding the best technique to identify BRAF mutations with a high sensitivity and specificity is mandatory for accurate patient selection for target therapy. BRAF mutation frequency ranges from 40 to...
3.
Yang X, Rotunno M, Xiao Y, Ingvar C, Helgadottir H, Pastorino L, et al.
Hum Genet
. 2016 Jul;
135(11):1241-1249.
PMID: 27449771
The risk of pancreatic cancer (PC) is increased in melanoma-prone families but the causal relationship between germline CDKN2A mutations and PC risk is uncertain, suggesting the existence of non-CDKN2A factors....
4.
Taylor N, Handorf E, Mitra N, Avril M, Azizi E, Bergman W, et al.
J Invest Dermatol
. 2016 Feb;
136(5):1066-1069.
PMID: 26827760
No abstract available.
5.
Bruno W, Pastorino L, Ghiorzo P, Andreotti V, Martinuzzi C, Menin C, et al.
J Am Acad Dermatol
. 2016 Jan;
74(2):325-32.
PMID: 26775776
Background: Multiple primary melanoma (MPM), in concert with a positive family history, is a predictor of cyclin-dependent kinase (CDK) inhibitor 2A (CDKN2A) germline mutations. A rule regarding the presence of...
6.
Andreotti V, Bisio A, Bressac-de Paillerets B, Harland M, Cabaret O, Newton-Bishop J, et al.
Pigment Cell Melanoma Res
. 2015 Nov;
29(2):210-21.
PMID: 26581427
Many variants of uncertain functional significance in cancer susceptibility genes lie in regulatory regions, and clarifying their association with disease risk poses significant challenges. We studied 17 germline variants (nine...
7.
Martinuzzi C, Pastorino L, Andreotti V, Garuti A, Minuto M, Fiocca R, et al.
Endocrine
. 2015 Aug;
53(3):672-80.
PMID: 26296380
The optimal method for BRAF mutation detection remains to be determined despite advances in molecular detection techniques. The aim of this study was to compare, against classical Sanger sequencing, the...
8.
Sargen M, Kanetsky P, Newton-Bishop J, Hayward N, Mann G, Gruis N, et al.
J Am Acad Dermatol
. 2015 Jan;
72(3):496-507.e7.
PMID: 25592620
Background: Inherited susceptibility genes have been associated with histopathologic characteristics of tumors. Objective: We sought to identify associations between histology of melanomas and CDKN2A genotype. Methods: This was a case-control...
9.
Scaini M, Minervini G, Elefanti L, Ghiorzo P, Pastorino L, Tognazzo S, et al.
Hum Mutat
. 2014 Mar;
35(7):828-40.
PMID: 24659262
CDKN2A codes for two oncosuppressors by alternative splicing of two first exons: p16INK4a and p14ARF. Germline mutations are found in about 40% of melanoma-prone families, and most of them are...
10.
Ponti G, Ruini C, Girolomoni G, Pellacani G, Farnetani F, Pastorino L, et al.
Future Oncol
. 2014 Feb;
10(3):345-50.
PMID: 24559443
Brooke-Spiegler syndrome is a hereditary disorder characterized by a predisposition to the development of skin appendage neoplasms and the major and minor salivary glands neoplasms. The role of the CYLD...