List of works - Giovanna Bianchi-Scarrà

A case of chronic myelogenous leukemia with unusual chromosomal abnormality

scientific article published on January 1979

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 flexible multiplex bead-based assay for detecting germline CDKN2A and CDK4 variants in melanoma-prone kindreds

scientific article

A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families

scientific article

A variant in FTO shows association with melanoma risk not due to BMI

scientific article

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

scientific article

An upstream negative regulatory element in human granulocyte-macrophage colony-stimulating factor promoter is recognised by AP1 family members.

scientific article

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

scientific article

Association of genetic variants in CDK6 and XRCC1 with the risk of dysplastic nevi in melanoma-prone families

scientific article published on 26 July 2013

BRAF gene is somatically mutated but does not make a major contribution to malignant melanoma susceptibility: the Italian Melanoma Intergroup Study

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 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

Characterization of ligurian melanoma families and risk of occurrence of other neoplasia

scientific article published on 01 November 1999

Characterization, localization, and biosynthesis of acetylcholinesterase in K 562 cells

scientific article published on 01 November 1988

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

article

Coexisting NRAS and BRAF mutations in primary familial melanomas with specific CDKN2A germline alterations

scientific article published on 17 September 2009

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

article

Cytokine expression in human primary and metastatic melanoma cells: analysis in fresh bioptic specimens

scientific article published on 01 February 1995

Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family

scientific article published on 23 January 2012

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

scientific article published on 01 December 2004

Effect of endothelial cell conditioned medium on the growth of human bone marrow fibroblasts.

scientific article published on June 1985

Electrophoretic pattern of NADPH-dependent oxidoreductive activities in K 562 and HL 60 leukemic cell lines.

scientific article published in January 1988

Expression and genomic configuration of GM-CSF, IL-3, M-CSF receptor (C-FMS), early growth response gene-1 (EGR-1) and M-CSF genes in primary myelodysplastic syndromes

scientific article published on 01 September 1994

Expression and localization of mutant p16 proteins in melanocytic lesions from familial melanoma patients

scientific article published on 01 January 2004

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

scientific article published on 11 August 2006

Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

scientific article

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

scientific article

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

scientific article published on 7 December 2017

Genetic testing for melanoma.

scientific article

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

scientific journal article

Genome-wide association study identifies three loci associated with melanoma risk

scientific article published on 05 July 2009

Genome-wide association study identifies three new melanoma susceptibility loci

scientific article

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

scientific article

Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations.

scientific article

H and L ferritin gene expression in U937 cells induced to macrophage differentiation.

scientific article published on December 1993

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

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

article

Histologic features of melanoma associated with CDKN2A genotype.

scientific article

Increased risk of colorectal adenomas in Italian subjects carrying the p53 PIN3 A2-Pro72 haplotype

scientific article published on 01 January 2006

Intercellular adhesion molecule-1 (ICAM-1) and granulocyte-macrophage colony stimulating factor (GM-CSF) co-expression in cutaneous malignant melanoma lesions

scientific article published on 01 June 1999

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

scientific article

Karyotype evolution in a case of chronic myelogenous leukemia with an unusual Philadelphia chromosome translocation, t(4;22), and an additional translocation, t(3;5)

scientific article published on 01 January 1981

Lactoferrin binding sites and nuclear localization in K562(S) cells

scientific article published on 01 December 1992

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

article

MEL-P, a GM-CSF-producing human melanoma cell line

scientific article published on June 1996

Marked karyotype abnormalities in two cases of acute myelogenous leukemia

scientific article published on 01 December 1981

Masked Philadelphia chromosome caused by translocation (9;11;22).

scientific article published on April 1983

Methemoglobin reductase variability as related to NAD glycohydrolase activity

scientific article published on 01 October 1974

Molecular characterization of an Italian series of sporadic GISTs.

scientific article

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

No Evidence for Linkage with Melanoma in Italian Melanoma-Prone Families

scientific article published in July 2008

Novel MC1R variants in Ligurian melanoma patients and controls.

scientific article published in July 2004

Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome

scientific article

On the interplay of telomeres, nevi and the risk of melanoma

scientific article

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

scientific article published on 28 January 2016

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

article

Preparation of colony stimulating activity from human leukemic urine: hydrophobic chromatography on propylamine-agarose

scientific article published on 01 January 1980

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

Selection criteria for genetic assessment of patients with familial melanoma

scientific article published in October 2009

Sporadic multiple primary melanoma cases:CDKN2Agermline mutations with a founder effect

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 effect on melanoma risk of genes previously associated with telomere length

scientific article

The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy

article

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

scientific article

Unusual Ph translocations in CML: four new cases

scientific article published on 01 February 1985

c-Rel and p65 subunits bind to an upstream NF-kappaB site in human granulocyte macrophage-colony stimulating factor promoter involved in phorbol ester response in 5637 cells.

scientific article published in November 1997

List of works by Giovanna Bianchi-Scarrà

A case of chronic myelogenous leukemia with unusual chromosomal abnormality

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

A flexible multiplex bead-based assay for detecting germline CDKN2A and CDK4 variants in melanoma-prone kindreds

A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families

A variant in FTO shows association with melanoma risk not due to BMI

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

An upstream negative regulatory element in human granulocyte-macrophage colony-stimulating factor promoter is recognised by AP1 family members.

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

Association of genetic variants in CDK6 and XRCC1 with the risk of dysplastic nevi in melanoma-prone families

BRAF gene is somatically mutated but does not make a major contribution to malignant melanoma susceptibility: the Italian Melanoma Intergroup Study

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

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

CDKN2A and MC1R analysis in amelanotic and pigmented melanoma

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

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

Characterization of ligurian melanoma families and risk of occurrence of other neoplasia

Characterization, localization, and biosynthesis of acetylcholinesterase in K 562 cells

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

Coexisting NRAS and BRAF mutations in primary familial melanomas with specific CDKN2A germline alterations

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

Cytokine expression in human primary and metastatic melanoma cells: analysis in fresh bioptic specimens

Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family

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

Effect of endothelial cell conditioned medium on the growth of human bone marrow fibroblasts.

Electrophoretic pattern of NADPH-dependent oxidoreductive activities in K 562 and HL 60 leukemic cell lines.

Expression and genomic configuration of GM-CSF, IL-3, M-CSF receptor (C-FMS), early growth response gene-1 (EGR-1) and M-CSF genes in primary myelodysplastic syndromes

Expression and localization of mutant p16 proteins in melanocytic lesions from familial melanoma patients

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

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

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

Genetic testing for melanoma.

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

Genome-wide association study identifies three loci associated with melanoma risk

Genome-wide association study identifies three new melanoma susceptibility loci

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations.

H and L ferritin gene expression in U937 cells induced to macrophage differentiation.

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

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

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

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

Histologic features of melanoma associated with CDKN2A genotype.

Increased risk of colorectal adenomas in Italian subjects carrying the p53 PIN3 A2-Pro72 haplotype

Intercellular adhesion molecule-1 (ICAM-1) and granulocyte-macrophage colony stimulating factor (GM-CSF) co-expression in cutaneous malignant melanoma lesions

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

Karyotype evolution in a case of chronic myelogenous leukemia with an unusual Philadelphia chromosome translocation, t(4;22), and an additional translocation, t(3;5)

Lactoferrin binding sites and nuclear localization in K562(S) cells

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

MEL-P, a GM-CSF-producing human melanoma cell line

Marked karyotype abnormalities in two cases of acute myelogenous leukemia

Masked Philadelphia chromosome caused by translocation (9;11;22).

Methemoglobin reductase variability as related to NAD glycohydrolase activity

Molecular characterization of an Italian series of sporadic GISTs.

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

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

No Evidence for Linkage with Melanoma in Italian Melanoma-Prone Families

Novel MC1R variants in Ligurian melanoma patients and controls.

Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome

On the interplay of telomeres, nevi and the risk of melanoma

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

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

Preparation of colony stimulating activity from human leukemic urine: hydrophobic chromatography on propylamine-agarose

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

Selection criteria for genetic assessment of patients with familial melanoma

Sporadic multiple primary melanoma cases:CDKN2Agermline mutations with a founder effect

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

The effect on melanoma risk of genes previously associated with telomere length

The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy

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

Unusual Ph translocations in CML: four new cases

c-Rel and p65 subunits bind to an upstream NF-kappaB site in human granulocyte macrophage-colony stimulating factor promoter involved in phorbol ester response in 5637 cells.