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List of works by Lorenza Pastorino

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

scientific article

A combination of immunohistochemistry and molecular approaches improves highly sensitive detection of BRAF mutations in papillary thyroid cancer.

scientific article published on 22 August 2015

A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin-Goltz syndrome.

scientific article

Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome.

scientific article

Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci

scientific article

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study

scientific article

BRAF-mutant melanoma: treatment approaches, resistance mechanisms, and diagnostic strategies.

scientific article

Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor.

scientific article

Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes.

scientific article published on 12 November 2011

CDKN2A and MC1R analysis in amelanotic and pigmented melanoma

scientific article published in June 2009

CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients

article

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

scientific article

CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.

scientific article published on 21 May 2014

CDKN2Ais the main susceptibility gene in Italian pancreatic cancer families ⬇️

scientific article published on March 1, 2012

Clinical genetic testing for familial melanoma in Italy: A cooperative study

article

Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma

scientific article published in 2018

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

scientific article published on 01 December 2018

Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy ⬇️

scientific article published on March 1, 2012

Coping with formalin banning in pathology: under vacuum long-term tissue storage with no added formalin

scientific article published on 02 January 2019

Correction: Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: interplay between germline and somatic variations.

scientific article published on 19 June 2018

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

article

Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin

scientific article published on 16 January 2018

Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome.

scientific article

Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients

scientific article published on 01 December 2004

Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline mutations

scientific article published on 05 October 2018

Erratum: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

scientific article published in Nature

Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas

article

Functional analysis of a CDKN2A 5'UTR germline variant associated with pancreatic cancer development

scientific article published on 7 December 2017

Genome-wide association study identifies three new melanoma susceptibility loci

scientific article

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.

scientific article

Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria

scientific article published on 08 November 2012

Heterogeneity and frequency of BRAF mutations in primary melanoma: Comparison between molecular methods and immunohistochemistry

scientific article published on 22 December 2016

High prevalence of the G101W germline mutation in theCDKN2A(P16ink4a) gene in 62 Italian malignant melanoma families

article

Identification of a SUFU germline mutation in a family with Gorlin syndrome.

scientific article published in July 2009

Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma

article

MC1Rvariation and melanoma risk in relation to host/clinical and environmental factors inCDKN2Apositive and negative melanoma patients

article

Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective

scientific article

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants

scientific article published on 5 February 2013

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

scientific article published on March 2005

Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.

scientific article published in February 2016

Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations

scientific article published on 23 July 2016

Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.

scientific article published on May 2005

PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).

scientific article published in January 2018

Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report ⬇️

scientific article published on May 8, 2012

Predicting the Risk of Pancreatic Cancer: OnCDKN2AMutations in the Melanoma-Pancreatic Cancer Syndrome in Italy

article

Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

scientific article published on 10 December 2012

Proteomic analysis of PTCH1+/- fibroblast lysate and conditioned culture media isolated from the skin of healthy subjects and nevoid basal cell carcinoma syndrome patients.

scientific article

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

scientific article

Skeletal and cranio-facial signs in Gorlin syndrome from ancient Egypt to the modern age: sphenoid asymmetry in a patient with a novel PTCH1 mutation

scientific article published on May 2014

The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma

scientific article published on 18 November 2015

The role of AIRE polymorphisms in melanoma

scientific article published on 02 April 2010

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