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Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.

JAMA network open - 3 Sept 2024

Rezoug Zoulikha, Totten Stephanie P, Szlachtycz David, Atayan Adrienne, Mohler Kristen, Albert Sophie, Feng Leila, Lemieux Anglin Brianna, Shen Zhen, Jimenez Daniel, Hamel Nancy, Meti Nicholas, Esfahani Khashayar, Boileau Jean-François, Prakash Ipshita, Basik Mark, Meterissian Sarkis, Tremblay Francine, Fleiszer David, Anderson Dawn, Chong George, Wong Stephanie M, Foulkes William D

Abstract excerpt

Importance: Between 5% and 10% of breast cancer cases are associated with an inherited germline pathogenic or likely pathogenic variant (GPV) in a breast cancer susceptibility gene (BCSG), which could alter local and systemic therapy recommendations. Traditional genetic testing criteria misses a proportion of these cases. Objective: To evaluate the prevalence and clinicopathological associations of GPVs in 2...

Topics

Humans
Female
Middle Aged
Breast Neoplasms
Genetic Testing
Cross-Sectional Studies
Adult
Genetic Predisposition to Disease
Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Fanconi Anemia Complementation Group N Protein

Genetic Counseling

BRCA1 Protein

BRCA2 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 39226054
DOI: 10.1001/jamanetworkopen.2024.31427
PMCID: PMC11372499

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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