Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant-Reference-Cited by-同舟云学术

Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant

Published:2019-01 Issue: Volume:63 Page:54-58
ISSN:0009-9120
Container-title:Clinical Biochemistry
language:en
Short-container-title:Clinical Biochemistry

Author:

Minucci Angelo,Lalle Maurizio,De Leo Rossella^ORCID,Mazzuccato Giorgia,Scambia Giovanni,Urbani Andrea,Fagotti Anna,Concolino Paola,Capoluongo Ettore

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

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1. Germline variant of BRCA1 c.5332G>A has clinical features of hereditary breast and ovarian cancer syndrome;International Cancer Conference Journal;2021-09-22

2. Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study;Scientific Reports;2021-04-19

3. Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis;Molecular Biology Reports;2019-12-12

4. A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair;Cancers;2019-09-28

5. 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;2019-07-12