R. Danesi

发表

BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype

R. Casadio, P. Martelli, T. Pippucci, 2017, Oncotarget.

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.

Nonrandom gain of chromosome 7 in central neurocytoma: A chromosomal analysis and fluorescence in situ hybridization study

D. Taruscio, F. Giangaspero, G. Cenacchi, 2005, Virchows Archiv.

Disease family history and modification of breast cancer risk in common BRCA2 variants.

D. Amadori, A. Paradiso, S. Casadei, 2008, Oncology reports.

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.

Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer

D. Amadori, D. Calistri, E. Petracci, 2017, Oncotarget.

Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients

G. Martinelli, D. Calistri, P. Ulivi, 2020, Diagnostics.

Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients

D. Calistri, M. Rosati, E. Petracci, 2022, International journal of molecular sciences.

First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer

D. Amadori, D. Calistri, F. Falcini, 2014, BMC Cancer.

Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer

G. Martinelli, D. Calistri, F. Falcini, 2021, BMC Cancer.

Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition

D. Amadori, G. Martinelli, D. Calistri, 2019, Cancers.

Genetic and Epigenetic Alterations of CDH1 Regulatory Regions in Hereditary and Sporadic Gastric Cancer

G. Martinelli, D. Calistri, G. Ranzani, 2021, Pharmaceuticals.

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.

M. Mangino, B. Dallapiccola, G. Novelli, 2001, Mutation research.

Multiple Primary Tumors in a Family with Li-Fraumeni Syndrome with a TP53 Germline Mutation Identified by Next-Generation Sequencing

D. Amadori, D. Calistri, C. Pittureri, 2016, The International journal of biological markers.

Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

D. Calistri, F. Falcini, G. Frassineti, 2023, Cancers.

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.

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

A. Whittemore, B. Karlan, E. John, 2023, British Journal of Cancer.

First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer

D. Amadori, D. Calistri, F. Falcini, 2014, BMC Cancer.

Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations

E. Scarpi, D. Amadori, S. Casadei, 2008, Breast Cancer Research and Treatment.

Identification of a novel large EPCAM-MSH2 duplication, concurrently with LOHs in chromosome 20 and X, in a family with Lynch syndrome

G. Martinelli, D. Calistri, P. Ulivi, 2019, International Journal of Colorectal Disease.

A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient

D. Calistri, I. Mammi, F. Falcini, 2023, International journal of molecular sciences.

Evaluation of an Italian Population-Based Programme for Risk Assessment and Genetic Counselling and Testing for BRCA1/2-Related Hereditary Breast and Ovarian Cancer after 10 Years of Operation: An Observational Study Protocol

C. Palmonari, D. Turchetti, D. Canuti, 2024, Methods and protocols.