<i>BRCA1</i> VUS: A functional analysis to differentiate pathogenic from benign variants identified in clinical diagnostic panels for breast cancer-Reference-Cited by-同舟云学术

BRCA1 VUS: A functional analysis to differentiate pathogenic from benign variants identified in clinical diagnostic panels for breast cancer

Published:2023-05-26 Issue:1 Volume:28 Page:
ISSN:1791-2997
Container-title:Molecular Medicine Reports
language:
Short-container-title:Mol Med Rep

Author:

Lourenço Rita¹,Lança Miguel¹,Monteiro Gil Octávia²,Cardoso Joana³,Lourenço Teresa³,Pereira‑Leal José³,Rodrigues António¹,Rueff José¹,Nunes Silva Susana¹

Affiliation:

1. ToxOmics, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa; 1150‑082 Lisbon, Portugal

2. Center for Nuclear Sciences and Technologies, Instituto Superior Técnico, Universidade de Lisboa, 2695‑066 Bobadela, Loures, Portugal

3. Ophiomics‑Precision Medicine, 1600‑514 Lisbon, Portugal

Publisher

Spandidos Publications

Subject

Cancer Research,Oncology,Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Reference53 articles.

1. Genome-wide meta-analyses of breast, ovarian, and prostate cancer association studies identify multiple new susceptibility loci shared by at least two cancer types;Kar;Cancer Discov,2016

2. Validation of a next-generation sequencing pipeline for the molecular diagnosis of multiple inherited cancer predisposing syndromes;Paulo;J Mol Diagn,2017

3. Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity;Pinto;Breast Cancer Res Treat,2016

4. Breast cancer risk genes-association analysis in more than 113,000 women;Dorling;N Engl J Med,2021

5. BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance;Eccles;Ann Oncol,2015