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Article

Germline genetic mutations in a multi-center cohort of 248 phyllodes tumors.

Breast cancer research and treatment - 1 Jan 2025

Rosenberger Laura H, Thomas Samantha M, Hieken Tina J, Gallagher Kristalyn K, Spanheimer Philip M, Neuman Heather B, Weiss Anna C, King Tari A, Wong Jasmine, Tong Barry S, Nash Amanda L, Frazier Margaret Powell, Menendez Carolyn S, Hwang E Shelley, Jakub James W, Plichta Jennifer K

Abstract excerpt

PURPOSE: Germline genetic mutations in women with phyllodes tumors (PT) are understudied, although some describe associations of PT with various mutations. We sought to determine the prevalence of pathogenic/likely pathogenic (P/LP) variants in women with PT. METHODS: A 6-site multi-center study of women with a PT was initiated, then expanded nationally through an online "Phyllodes Support Group." All women...

Read the complete abstract on PubMed

Topics

Humans
Female
Germ-Line Mutation
Breast Neoplasms
Phyllodes Tumor

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Middle Aged

Adult

Aged

Genetic Testing

Genetic Predisposition to Disease

Young Adult

Biomarkers, Tumor

Source

Open in PubMed Open full text

Identifiers

PMID: 39269552
DOI: 10.1007/s10549-024-07488-3
PMCID: PMC11786992

Genes

ATM
CHEK2
RAD51D

Provenance

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