Publications:

BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.

International Journal Of Molecular Sciences

Concolino, Paola P; Gelli, Gianfranco G; Rizza, Roberta R; Costella, Alessandra A; Scambia, Giovanni G; Capoluongo, Ettore E

Publication Date: 2019-07-12

Variant appearance in text: BRCA2: 4285_4286insG

PubMed Link: 31336956

Variant Present in the following documents:

• Main text
• ijms-20-03442.pdf

View BVdb publication page

Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.

International Journal Of Molecular Sciences

Palmirotta, Raffaele R; Lovero, Domenica D; Stucci, Luigia Stefania LS; Silvestris, Erica E; Quaresmini, Davide D; Cardascia, Angela A; Silvestris, Franco F

Publication Date: 2018-01-18

Variant appearance in text: BRCA2: 4285_4286insG

PubMed Link: 29346284

Variant Present in the following documents:

• Main text
• ijms-19-00285.pdf

View BVdb publication page