Genetic testing in patients with triple-negative or hereditary breast cancer.


Journal

Current opinion in oncology
ISSN: 1531-703X
Titre abrégé: Curr Opin Oncol
Pays: United States
ID NLM: 9007265

Informations de publication

Date de publication:
01 11 2021
Historique:
pubmed: 3 9 2021
medline: 25 11 2021
entrez: 2 9 2021
Statut: ppublish

Résumé

In recent years there has been a dramatic evolution in the clinical utility of genetic testing with expanding therapeutic implications for individuals with breast cancer who harbor a germline mutation in BRCA1/2. As these therapeutic opportunities expand and evolve, this requires the clinical and research community to rethink the approach to genetic testing for individuals with breast cancer. Genetic testing is evolving from traditional testing models based on pretest counseling with the aim of identifying hereditary and individual risk for purposes of screening and risk reduction to contemporary models that utilize technology to improve accessibility and oncology led mainstreaming of testing where the oncologist refers for genetic testing, discloses the results and formal counseling occurs later in the process than in traditional models. The cost and accessibility to multigene panel testing have resulted in broad uptake despite the fact that clinical utility and appropriate interpretation of results are not yet well established. Furthermore, somatic testing for genomic alterations may also yield results beyond the disease with detection of germline mutations impacting the individual and their family more broadly than anticipated. With the establishment of poly (adenosine diphosphate-ribose) polymerase inhibitors as part of the treatment armamentarium for early and advanced breast cancer, paradigms, algorithms, and resources for genetic testing need to rapidly change in order to adapt to the evolution of germline mutations from hereditary and individual risk predictors to predictive therapeutic biomarkers.

Identifiants

pubmed: 34474437
doi: 10.1097/CCO.0000000000000784
pii: 00001622-202111000-00007
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

584-590

Informations de copyright

Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.

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Auteurs

Rinat Bernstein-Molho (R)

Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer.
Sackler School of Medicine, Tel-Aviv University, Tel-Aviv.

Ella Evron (E)

Department of Oncology, Kaplan Medical Center, Rehovot.
Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

Rinat Yerushalmi (R)

Institute of Oncology, Davidoff Cancer Center, Rabin Medical Center, Beilinson Hospital, Petah Tikva.
Sackler School of Medicine, Tel-Aviv University, Tel-Aviv.

Shani Paluch-Shimon (S)

Sharett Institute of Oncology, Hadassah University Hospital, Jerusalem.
Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

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