Addressing the Historic Challenges of <i>BRCA1</i> and <i>BRCA2</i> Variant Curation and the Need for More Diverse Representation-Reference-Cited by-同舟云学术

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Addressing the Historic Challenges of BRCA1 and BRCA2 Variant Curation and the Need for More Diverse Representation

Published:2024-06 Issue:8 Volume: Page:
ISSN:2473-4276
Container-title:JCO Clinical Cancer Informatics
language:en
Short-container-title:JCO Clin Cancer Inform

Author:

Chavarri-Guerra Yanin¹^ORCID,Weitzel Jeffrey N.²^ORCID

Affiliation:

1. Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico

2. The University of Kansas Comprehensive Cancer Center, Kansas City, MO

Abstract

Advancements in variant curation challenges: minority representation and incomplete data reporting

Publisher

American Society of Clinical Oncology (ASCO)

Link

https://ascopubs.org/doi/pdfdirect/10.1200/CCI.24.00076

Reference14 articles.

1. A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1

2. Gene Patents and Personalized Cancer Care: Impact of theMyriadCase on Clinical Oncology

3. The Next-Generation Sequencing Revolution and Its Impact on Genomics

4. Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

5. Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

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