Two Germline Pathogenic Variants in Cancer Susceptibility Genes and Their Null Implication in Breast Cancer Pathogenesis: The Importance of Tumoral Homologous Recombination Deficiency Testing

Author:

Rezqallah Alejandra1ORCID,Torres-Esquius Sara1ORCID,Llop-Guevara Alba2ORCID,Cruellas Mara3,Martinez María T.4ORCID,Romey Marcel5,Denkert Carsten5ORCID,Serra Violeta2ORCID,Chirivella Isabel4,Balmaña Judith13ORCID

Affiliation:

1. Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain

2. Experimental Therapeutics Group, Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron Barcelona Hospital Campus, Barcelona, Spain

3. Medical Oncology Department, Hospital Universitari Vall d’Hebron, Barcelona, Spain

4. Medical Oncology Department, INCLIVA Biomedical Research Institute, Hospital Clínico de València, University of Valencia, Valencia, Spain

5. Institute of Pathology, Universitätsklinikum Marburg, Marburg, Germany

Abstract

Homologous recombination proficiency in patients with breast cancer despite germline PALB2/RAD51C pathogenic variants.

Publisher

American Society of Clinical Oncology (ASCO)

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