A5085734064- Cancer Genomics and Diagnostics
- Cutaneous Melanoma Detection and Management
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- Melanoma and MAPK Pathways
- Colorectal Cancer Treatments and Studies
- Lung Cancer Treatments and Mutations
- DNA Repair Mechanisms
- Ovarian cancer diagnosis and treatment
- Genomic variations and chromosomal abnormalities
- Dermatology and Skin Diseases
- Lung Cancer Diagnosis and Treatment
- Pancreatic and Hepatic Oncology Research
- Gastric Cancer Management and Outcomes
- Nutrition, Genetics, and Disease
- Adrenal Hormones and Disorders
- Colorectal and Anal Carcinomas
- Myasthenia Gravis and Thymoma
- Infectious Diseases and Mycology
- Cancer-related Molecular Pathways
- Autoimmune Bullous Skin Diseases
- Cassava research and cyanide
- Antimicrobial agents and applications
- Occupational exposure and asthma
- Neurotransmitter Receptor Influence on Behavior
Institute of Genetic and Biomedical Research
2024-2025
National Research Council
2008-2024
University of Sassari
2005-2021
Istituto di Chimica Biomolecolare
2005-2021
Cancer Genetics (United States)
2013-2021
National Academies of Sciences, Engineering, and Medicine
2014-2020
Co-operative College
2017
Azienda Ospedaliero Universitaria di Sassari
2009
Istituto Dermopatico dell'Immacolata
2007
Zero to Three
2005
Activation of oncogenes downstream the EGFR gene contributes to colorectal tumorigenesis and determines sensitivity anti-EGFR treatments. The aim this study was evaluate prognostic value KRAS, BRAF, NRAS PIK3CA mutations in a large collection CRC patients from genetically-homogeneous Sardinian population. A total 1284 with histologically-proven diagnosis carcinoma (CRC) presenting metastatic disease were included into study. Genomic DNA isolated formalin-fixed, paraffin-embedded primary...
Vanadium compounds are known for their antidiabetic properties due to ability interfere with numerous mechanisms that lead the decrease of blood glucose levels. Although some these have reached clinical trials and advantage being orally administrable, no vanadium-containing drugs currently available on market, primarily high doses required, which can intestinal renal problems in case long-term treatments. In this study, plant extracts obtained from olive leaves (Olea europaea L.) were...
Abstract Background Lung cancer is one of the most incident neoplastic diseases, and a leading cause death for worldwide. Knowledge incidence druggable genetic alterations, their correlation with clinical pathological features disease, interplay in cases co-occurrence crucial selecting best therapeutic strategies patients non-small cell lung cancer. In this real-life study, we describe molecular epidemiology alterations five driver genes correlations demographic characteristics Sardinian...
Cutaneous malignant melanoma (CMM) is one of the most common skin cancers worldwide. Limited information available in current scientific literature on concordance genetic alterations between primary and metastatic CMM. In present study, we performed next-generation sequencing (NGS) analysis main genes participating pathogenesis progression, among paired lesions CMM patients, with aim to evaluate levels discrepancies mutational patterns. Paraffin-embedded tumor tissues were retrieved from...
Several genetic alterations have been demonstrated to contribute the development and progression of melanoma. In this study, we further investigated impact key-regulator genes in susceptibility pathogenesis such a disease.A large series (N = 846) sporadic familial cases originating from South Italy was screened for germline mutations p16(CDKN2A), BRCA2, MC1R by DHPLC analysis automated DNA sequencing. Paired primary melanomas lymph node metastases same patients 35) as well melanoma cell...
Background The chromosome 9p21 and its CDKN locus, with the p16 tumour suppressor gene (CDKN2A), are recognized as genomic regions involved in pathogenesis of melanoma. Objectives To elucidate further role such during different phases melanocytic tumorigenesis. Methods Tissue sections from naevi, primary metastatic melanomas were investigated by fluorescence situ hybridization for allelic loss at immunochemistry p16CDKN2A expression. Results Dysplastic naevi or secondary found to carry...
Abstract Background Role of KRAS , BRAF and PIK3CA mutations in pathogenesis colorectal cancer (CRC) has been recently investigated worldwide. In this population-based study, we evaluated the incidence rates distribution such somatic genetically isolated population from Sardinia. Methods From April 2009 to July 2011, formalin-fixed paraffin-embedded tissues (N = 478) were prospectively collected Sardinian CRC patients at clinics across entire island. Genomic DNA was tissue sections screened...
Female adnexal tumors of probable Wolffian origin are rare gynecologic with <90 cases reported in the current scientific literature. Their clinical features have been described extensively; less is known about pathophysiological mechanisms and molecular alterations underlying their development growth. We performed a complete histopathologic examination systematic mutation analysis using next-generation sequencing approach on 3 female from archives our institution to detect possible genetic...
KRAS mutation analysis is commonly performed on tissue samples obtained from primary colorectal cancers (CRCs). The metastatic lesions of CRC are usually considered as qualitatively similar or even identical to the tumors. aim this study was evaluate spectrum and distribution mutations in a large collection CRCs, while also evaluating concordance among available paired specimens same patients. A total 729 patients with histologically confirmed advanced at University Hospital Local Health...
Abstract Background In recent years, numerous studies have assessed the prevalence of germline mutations in BRCA1 and BRCA2 genes various cohorts. We here extensively investigated geographical distribution BRCA1-2 entire genetically-homogeneous Sardinian population. The occurrence phenotypic characteristics which may be predictive for presence was also evaluated. Methods Three hundred forty-eight breast cancer patients presenting a familial recurrence invasive or ovarian carcinoma with at...
Assessment of the epidermal growth factor receptor (EGFR) mutational status has become crucial in recent years molecular classification patients with lung cancer. The impact type and quantity malignant cells neoplastic specimen on quality mutation analysis remains to be elucidated, only empirical sporadic data are available. aim present study was investigate tissue content EGFR among adenocarcinoma. A total 515 histologically‑confirmed disease were included study. Formalin‑fixed paraffin...
Germline mutations in BRCA1 or BRCA2 genes have been demonstrated to increase the risk of developing breast cancer. Among prognostic factors currently used clinical practice, disease stage and receptor status play a crucial role management carcinoma. Triple‑negative cancer (TNBC) has classified as subgroup that is negative for oestrogen, progesterone HER2 expression, presents poor prognosis. The present study investigated correlation between BRCA1/2 TNBC large series (n=726) patients from...
Sinonasal mucosal melanoma (SNM) is a rare and aggressive type of melanoma, because this, we currently have limited understanding its genetic molecular constitution. The incidence among SNMs somatic mutations in the genes involved main pathways, which been largely associated with cutaneous not yet fully understood. Through next-generation sequencing (NGS) approach using panel 25 pathogenesis customized by our group, performed mutation analysis cohort SNM patients. Results showed that...
Abstract BACKGROUND Factors that are predictive of carrying BRCA 1 and 2 germline mutations in patients with breast carcinoma awaited widely. The genetically homogeneous Sardinian population may be useful for defining the role such genetic alterations further through a clinical evaluation program. METHODS One hundred two 659 (15.5%) who were collected consecutively had family history screened 1/2 by denaturing high‐performance liquid chromatography DNA sequencing. RESULTS Three deleterious...
Germline mutations in BRCA1 or BRCA2 genes have been demonstrated to increase the risk of developing breast cancer. Conversely, impact BRCA on prognosis and survival cancer patients is still debated. In this study, we investigated role such cancer-specific among from North Sardinia. Among incident cases during period 1997–2002, a total 512 gave their consent undergo mutation screening by DHPLC analysis automated DNA sequencing. The Hakulinen, Kaplan-Meier, Cox regression methods were used...
Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses genetically-homogeneous populations, such as that of Sardinia (Italy), could represent an additional approach to detect low penetrance alleles.
Malignant melanoma (MM) is one of the deadliest skin cancers. BRAF mutation status plays a predominant role in management MM patients. The aim this study was to compare mutational testing performed by conventional nucleotide sequencing approaches with either real-time polymerase chain reaction (rtPCR) or next-generation (NGS) assays real-life, hospital-based series advanced Consecutive patients AJCC (American Joint Committee on Cancer) stage IIIC and IV from Sardinia, Italy, who were...
Abstract Background Advanced lung adenocarcinoma (LAC) is one of the most lethal malignancies worldwide. The aim this study was to evaluate global survival in a real-life cohort patients with LAC harboring driver genetic alterations. Methods A series 1282 consecutive Sardinian who underwent testing from January 2011 through July 2016 collected. Molecular tests were based on clinical needs each single case ( EGFR -exon18/19/21, ALK , and, more recently, BRAF -exon15), and availability tissue...
Rechallenge with EGFR inhibitors represents a promising strategy for patients RAS wild type (WT) colorectal cancer (CRC) but definitive selection criteria are lacking. Recently, the WT status on circulating tumor DNA (ct-DNA) emerged as potential watershed this strategy. Our study explored liquid biopsy-driven cetuximab rechallenge in and BRAF selected population.CRC both tissue ct-DNA at baseline receiving were eligible our analysis. Ct-DNA was analyzed RAS-BRAF mutations pyro-sequencing...