Valentina Zampiga

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.

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

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

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.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

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.

Coexistence of Two Novel Mutations in CDKN2A and PMS1 Genes in a Single Patient Identifies a New and Severe Cancer Predisposition Syndrome

D. Calistri, G. Novelli, F. Sangiuolo, 2017 .

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

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

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

B. Bonanni, M. Urioste, J. Benítez, 2020, Cancers.

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.

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

James M. Hodge, E. Burnside, Y. Kamatani, 2023, Clinical cancer research : an official journal of the American Association for Cancer Research.

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.