L. Pastorino

发表

Genome-wide association study identifies three new melanoma susceptibility loci

Jeffrey E. Lee, J. Malvehy, S. Puig, 2011, Nature Genetics.

High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.

A. Goldstein, P. Queirolo, B. Pasini, 2002, American journal of medical genetics.

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

P. Ascierto, V. de Giorgi, S. Manoukian, 2016, Journal of the American Academy of Dermatology.

Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries

J. Malvehy, S. Puig, M. Tucker, 2007, International journal of cancer.

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

S. Seidenari, G. Pellacani, A. Tomasi, 2012, Oncology letters.

CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment

Silvio C. E. Tosatto, S. Tognazzo, S. Tosatto, 2014, Human mutation.

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

X. Hua, Jianxin Shi, S. Puig, 2018, Human molecular genetics.

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

F. Mari, S. Gargiulo, G. Leigheb, 2009, Clinical genetics.

Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1

A. Ballestrero, A. Goldstein, S. Manoukian, 2020, Cancers.

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

A. Goldstein, P. Queirolo, R. Cusano, 2006, Human molecular genetics.

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

X. Hua, Jianxin Shi, S. Chanock, 2014, Nature Genetics.

MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients

P. Queirolo, V. Andreotti, M. Barile, 2012, Experimental dermatology.

COVID‐19 spreading across world correlates with C677T allele of the methylenetetrahydrofolate reductase (MTHFR) gene prevalence

S. Kaleci, M. Manfredini, T. Ozben, 2021, Journal of clinical laboratory analysis.

Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.

P. Queirolo, A. Quattrone, J. Jordan, 2010, Human molecular genetics.

Clinical genetic testing for familial melanoma in Italy: a cooperative study.

P. Ascierto, S. Manoukian, M. Pizzichetta, 2009, Journal of the American Academy of Dermatology.

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

P. Queirolo, S. Gargiulo, P. Savoia, 2008, Pigment cell & melanoma research.

Melanoma in children and adolescents: analysis of susceptibility genes in 123 Italian patients

I. Stanganelli, P. Queirolo, D. Massi, 2021, Journal of the European Academy of Dermatology and Venereology : JEADV.

CDKN2A and MC1R analysis in amelanotic and pigmented melanoma

R. Talamini, M. Pizzichetta, P. Queirolo, 2009, Melanoma research.

Novel MC1R variants in Ligurian melanoma patients and controls

R. Sturm, R. Cusano, M. Barile, 2004, Human mutation.

Clinical Significance of Germline Pathogenic Variants among 51 Cancer Predisposition Genes in an Unselected Cohort of Italian Pancreatic Cancer Patients

V. Andreotti, S. Sciallero, P. Ghiorzo, 2022, Cancers.

Frequency of CDKN2A mutation in Ligurian non-familial melanoma patients

A. Goldstein, P. Queirolo, M. Sertoli, 2004 .

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

S. Ascani, C. Mecucci, P. Covarelli, 2018, Molecular Cytogenetics.

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

Federica Grillo, Michele Minuto, Paola Ghiorzo, 2016, Endocrine.

CDKN2A is the main susceptibility gene in Italian pancreatic cancer families

P. Queirolo, S. Gargiulo, S. Sciallero, 2012, Journal of Medical Genetics.

Predicting the risk of pancreatic cancer: on CDKN2A mutations in the melanoma-pancreatic cancer syndrome in Italy.

S. Gargiulo, V. Savarino, L. Mastracci, 2007, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup

A. Ballestrero, I. Stanganelli, P. Queirolo, 2022, ESMO open.

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

A. Ballestrero, P. Queirolo, V. Andreotti, 2019, Journal of the American Academy of Dermatology.

Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer.

S. Chanock, M. Tucker, N. Freedman, 2022, JCO precision oncology.

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

V. Pensotti, G. Palmieri, S. Sciallero, 2011, Familial Cancer.

Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma

D. Massi, V. Andreotti, G. Zoppoli, 2022, International journal of molecular sciences.

Insights into Mechanisms of Tumorigenesis in Neuroendocrine Neoplasms

F. Grillo, P. Ghiorzo, L. Pastorino, 2021, International journal of molecular sciences.

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

C. Longo, S. Seidenari, G. Pellacani, 2012, Familial Cancer.

Unicystic ameloblastoma associated with the novel K729M PTCH1 mutation in a patient with nevoid basal cell carcinoma (Gorlin) syndrome.

S. Seidenari, G. Pellacani, G. Bianchi‐Scarrǎ, 2012, Cancer genetics.

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

S. Seidenari, G. Pellacani, C. Ruini, 2013, Clinical genetics.

Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.

R. Cusano, F. Faravelli, C. Baldo, 2005, Child: care, health and development.

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

L. Pastorino, C. Martinuzzi, A. Sekerci, 2016, Indian journal of pathology & microbiology.

Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI)

I. Stanganelli, P. Queirolo, M. Mandalà, 2020, Diagnostic Pathology.

Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group

Sandeep Kumar Dhanda, S. Pfister, P. Vahteristo, 2022, Journal of Medical Genetics.

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

M. Clementi, R. Cusano, L. Battistuzzi, 2009, American journal of medical genetics. Part A.

Medulloblastoma Variants: Age-Dependent Occurrence and Relation to Gorlin Syndrome—A New Clinical Perspective

V. Capra, T. Pietsch, F. Giangaspero, 2009, Clinical Cancer Research.

MedulloblastomaVariants : Age-Dependent Occurrence and Relation to Gorlin Syndrome ANew Clinical Perspective

V. Capra, F. Giangaspero, G. Morana, 2009 .

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

G. Pellacani, M. Manfredini, A. Tomasi, 2018, Anticancer research.

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

Wei Chen, Jennifer L. Stow, Amy E. Thurber, 2009, The Journal of investigative dermatology.

Non-BRAF Mutant Melanoma: Molecular Features and Therapeutical Implications

V. Andreotti, P. Ghiorzo, L. Pastorino, 2020, Frontiers in Molecular Biosciences.

Inverse correlation between p16INK4A expression and NF-kappaB activation in melanoma progression.

S. Gargiulo, P. Ghiorzo, G. Bianchi‐Scarrǎ, 2004, Human pathology.

Genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility

Blair H. Smith, Jeffrey E. Lee, G. Abecasis, 2020, Nature Genetics.

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

Jianxin Shi, Florence Demenais, Maria Teresa Landi, 2014, Nature Genetics.

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

L. Thomas, N. Hayward, M. Tucker, 2013, Journal of Medical Genetics.

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

S. Seidenari, G. Pellacani, C. Ruini, 2012, Hereditary Cancer in Clinical Practice.

Genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility

Blair H. Smith, Jeffrey E. Lee, G. Abecasis, 2020, Nature Genetics.

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

S. Chanock, H. Olsson, M. Yeager, 2016, Human Genetics.

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients

R. Cusano, F. Faravelli, C. Baldo, 2005, Human mutation.

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

S. Seidenari, G. Pellacani, C. Ruini, 2012, Hereditary cancer in clinical practice.

Novel PTCH1 Mutations in Patients with Keratocystic Odontogenic Tumors Screened for Nevoid Basal Cell Carcinoma (NBCC) Syndrome

C. Longo, S. Seidenari, G. Pellacani, 2012, PloS one.

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

C. Longo, S. Seidenari, G. Pellacani, 2012, Familial Cancer.

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

S. Puig, L. Thomas, S. Richard, 2011, Nature.

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

Ivana K. Kim, S. Puig, N. Hayward, 2018, Journal of the National Cancer Institute.

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.

G. Pellacani, C. Ruini, A. Tomasi, 2014, Future oncology.

The role of AIRE polymorphisms in melanoma.

M. Sormani, S. Negrini, L. Pastorino, 2010, Clinical immunology.

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

P. Queirolo, P. Ghiorzo, L. Pastorino, 2015, OncoTargets and therapy.

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

P. Queirolo, V. Andreotti, M. Tibiletti, 2013, Pigment cell & melanoma research.

Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study

S. Puig, E. Gillanders, D. Elder, 2010, Journal of the National Cancer Institute.

Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients

C. Massone, M. Pizzichetta, P. Queirolo, 2020, Journal of Translational Medicine.

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

A. Ballestrero, P. Queirolo, M. Gualco, 2017, Oncotarget.

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

A. Inga, A. Bisio, V. Andreotti, 2017, PloS one.

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

A. Ballestrero, P. Queirolo, M. Gualco, 2016, Oncotarget.

The CDKN2A/p16INK4a 5′UTR sequence and translational regulation: impact of novel variants predisposing to melanoma

P. Queirolo, R. Spitale, A. Inga, 2016, Pigment cell & melanoma research.

INK4/ARF germline alterations in pancreatic cancer patients.

P. Queirolo, S. Zupo, R. Cusano, 2004, Annals of oncology : official journal of the European Society for Medical Oncology.

Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting

P. Queirolo, V. Andreotti, G. Zoppoli, 2023, International journal of molecular sciences.

Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations

S. Puig, H. Olsson, M. Lauss, 2018, Journal of Medical Genetics.

Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia

S. Puig, D. Elder, N. Hayward, 2021, Genetics in Medicine.

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

M. Sormani, A. Goldstein, P. Queirolo, 2004, Melanoma research.

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

G. Pellacani, F. Farnetani, G. Girolomoni, 2014, Future oncology.

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

S. Seidenari, L. Pastorino, L. Losi, 2012, Journal of cutaneous pathology.

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

R. Fiocca, F. Grillo, L. Mastracci, 2019, Histochemistry and Cell Biology.

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

V. Pensotti, G. Palmieri, S. Gargiulo, 2012, Familial Cancer.

Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt–Hogg–Dubè Syndrome Family

G. Martinelli, D. Calistri, V. Andreotti, 2022, Frontiers in Oncology.

Molecular Assessment in Patients with Melanoma: When and Why?

V. Andreotti, P. Ghiorzo, L. Pastorino, 2020 .

Beta-catenin and survivin expression in keratocystic odontogenic tumor (KCOT). A comparative immunohistochemical study in primary, recurrent and nevoid basal cell carcinoma syndrome (NBCCS)-associated lesions.

J. N. dos Santos, G. Musumeci, C. Loreto, 2013, Histology and histopathology.

Clinical utility gene card for: Gorlin syndrome

S. Levanat, L. Pastorino, L. Muzio, 2011, European Journal of Human Genetics.

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

S. Ollila, M. Nyström, R. Cusano, 2009, Familial Cancer.

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

S. Puig, L. Thomas, S. Richard, 2015, Nature.

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

R. Fiocca, F. Grillo, L. Mastracci, 2019, Histochemistry and Cell Biology.

Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome

V. Andreotti, P. Ghiorzo, L. Pastorino, 2024, Genes.

High‐ and intermediate‐risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium

J. Malvehy, C. Badenas, S. Necozione, 2023, Journal of the European Academy of Dermatology and Venereology : JEADV.

Proteomic Analysis of PTCH1+/− Fibroblast Lysate and Conditioned Culture Media Isolated from the Skin of Healthy Subjects and Nevoid Basal Cell Carcinoma Syndrome Patients

G. Pellacani, A. Witkowski, E. Bellei, 2013, BioMed research international.