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

Oluwadamilola M FayanjuSamantha M ThomasTina J HiekenKristalyn K GallagherPhilip M SpanheimerHeather B NeumanAnna C WeissTari A KingJasmine WongBarry S TongAmanda L NashMargaret Powell FrazierCarolyn S MenendezE Shelley HwangJames W JakubJennifer K Plichta

Published in: Breast cancer research and treatment (2024)

Our study demonstrates that 7.7% of women with PT harbor germline P/LP variants in genes associated with AD cancer conditions. Early identification of these variants has implications for screening, risk reduction, and/or treatment. National guidelines for women with PT do not currently address germline genetic testing, which could be considered.

Keyphrases

copy number
dna repair
papillary thyroid
squamous cell
dna damage
quality improvement
gene expression
young adults
combination therapy
childhood cancer