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Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.

Human molecular genetics - 8 Apr 2024

Fortuno Cristina, Michailidou Kyriaki, Parsons Michael, Dolinsky Jill S, Pesaran Tina, Yussuf Amal, Mester Jessica L, Hruska Kathleen S, Hiraki Susan, O'Connor Robert, Chan Raymond C, Kim Serra, Tavtigian Sean V, Goldgar David, James Paul A, Spurdle Amanda B

Abstract excerpt

Since first publication of the American College of Medical Genetics and Genomics/Association for Medical Pathology (ACMG/AMP) variant classification guidelines, additional recommendations for application of certain criteria have been released (https://clinicalgenome.org/docs/), to improve their application in the diagnostic setting. However, none have addressed use of the PS4 and PP4 criteria, capturing patient...

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Identifiers

PMID: 38271184
DOI: 10.1093/hmg/ddae009
PMCID: PMC11000651

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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