Population Screening for Inherited Predisposition to Breast and Ovarian Cancer.


Journal

Annual review of genomics and human genetics
ISSN: 1545-293X
Titre abrégé: Annu Rev Genomics Hum Genet
Pays: United States
ID NLM: 100911346

Informations de publication

Date de publication:
31 08 2020
Historique:
pubmed: 22 4 2020
medline: 25 6 2021
entrez: 22 4 2020
Statut: ppublish

Résumé

The discovery of genes underlying inherited predisposition to breast and ovarian cancer has revolutionized the ability to identify women at high risk for these diseases before they become affected. Women who are carriers of deleterious variants in these genes can undertake surveillance and prevention measures that have been shown to reduce morbidity and mortality. However, under current strategies, the vast majority of women carriers remain undetected until they become affected. In this review, we show that universal testing, particularly of the

Identifiants

pubmed: 32315550
doi: 10.1146/annurev-genom-083118-015253
doi:

Substances chimiques

BRCA1 Protein 0
BRCA1 protein, human 0
BRCA2 Protein 0
BRCA2 protein, human 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

373-412

Auteurs

Ranjit Manchanda (R)

Wolfson Institute of Preventive Medicine, Queen Mary University of London, London EC1M 6BQ, United Kingdom; email: r.manchanda@qmul.ac.uk, f.gaba@qmul.ac.uk.
Department of Gynaecological Oncology, Barts Health NHS Trust, London E1 1FR, United Kingdom.

Sari Lieberman (S)

Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem 9103102, Israel; email: sari@szmc.org.il, lahad@szmc.org.il.
Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel; email: amnonl@ekmd.huji.ac.il.

Faiza Gaba (F)

Wolfson Institute of Preventive Medicine, Queen Mary University of London, London EC1M 6BQ, United Kingdom; email: r.manchanda@qmul.ac.uk, f.gaba@qmul.ac.uk.
Department of Gynaecological Oncology, Barts Health NHS Trust, London E1 1FR, United Kingdom.

Amnon Lahad (A)

Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel; email: amnonl@ekmd.huji.ac.il.
Clalit Health Services, Jerusalem 9548323, Israel.

Ephrat Levy-Lahad (E)

Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem 9103102, Israel; email: sari@szmc.org.il, lahad@szmc.org.il.
Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel; email: amnonl@ekmd.huji.ac.il.

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Classifications MeSH