Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer

Key Points Question What is the prevalence of germline pathogenic variants in breast cancer susceptibility genes among women with newly diagnosed invasive breast cancer? Findings In this cross-sectional study of 729 female patients with a first diagnosis of breast cancer who participated in a universal genetic testing program, 5.3% had germline pathogenic variants in BRCA1/2 or PALB2, and 1.8% were considered eligible for poly(adenosine diphosphate–ribose) polymerase inhibitors based on their genetic testing result. Meaning Findings suggest that universal genetic testing identifies actionable germline pathogenic variants in more than 1 in 20 patients with newly diagnosed breast cancer and is associated with systemic therapy recommendations in one-third of these cases.

• Publication year

  2024

• Venue

  JAMA Network Open

• Publication date

  2024-09-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1001/jamanetworkopen.2024.31427PMID 39226054PMCID 11372499
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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