User profiles for "author:P Ghiorzo"
 | Paola GhiorzoUniversity of Genoa, IRCCS Ospedale Policlinico San Martino, Genoa Verified email at unige.it Cited by 9222 |
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide
Background The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-
TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 …
TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 …
BRAF-mutant melanoma: treatment approaches, resistance mechanisms, and diagnostic strategies
F Spagnolo, P Ghiorzo, L Orgiano… - OncoTargets and …, 2015 - Taylor & Francis
BRAF inhibitors vemurafenib and dabrafenib achieved improved overall survival over
chemotherapy and have been approved for the treatment of BRAF-mutated metastatic …
chemotherapy and have been approved for the treatment of BRAF-mutated metastatic …
[HTML][HTML] Overcoming resistance to BRAF inhibition in BRAF-mutated metastatic melanoma
Almost 50% of metastatic melanoma patients harbor a BRAF V600 mutation andthe
introduction of BRAF inhibitors has improved their treatment options. BRAF inhibitors …
introduction of BRAF inhibitors has improved their treatment options. BRAF inhibitors …
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
So far, no common environmental and/or phenotypic factor has been associated with
melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include …
melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include …
Genome-wide association study identifies three loci associated with melanoma risk
…, T Dębniak, G Galore-Haskel, P Ghiorzo… - Nature …, 2009 - nature.com
We report a genome-wide association study of melanoma conducted by the GenoMEL
consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with …
consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with …
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
…, A Chompret, F Cuellar, DE Elder, P Ghiorzo… - Journal of medical …, 2007 - jmg.bmj.com
Background: The major factors individually reported to be associated with an increased
frequency of CDKN2A mutations are increased number of patients with melanoma in a …
frequency of CDKN2A mutations are increased number of patients with melanoma in a …
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL
…, LA Cannon Albright, F Demenais, DE Elder, P Ghiorzo… - Cancer research, 2006 - AACR
GenoMEL, comprising major familial melanoma research groups from North America,
Europe, Asia, and Australia has created the largest familial melanoma sample yet available …
Europe, Asia, and Australia has created the largest familial melanoma sample yet available …
Geographical variation in the penetrance of CDKN2A mutations for melanoma
…, BB Paillerets, A Chompret, P Ghiorzo… - Journal of the …, 2002 - academic.oup.com
Background: Germline mutations in the CDKN2A gene, which encodes two proteins
(p16INK4A and p14ARF), are the most common cause of inherited susceptibility to …
(p16INK4A and p14ARF), are the most common cause of inherited susceptibility to …
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
Although CDKN2A is the most frequent high-risk melanoma susceptibility gene, the
underlying genetic factors for most melanoma-prone families remain unknown. Using whole …
underlying genetic factors for most melanoma-prone families remain unknown. Using whole …
Genome-wide association study identifies three new melanoma susceptibility loci
We report a genome-wide association study for melanoma that was conducted by the
GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and …
GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and …