Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort.

Jennifer Herrera-Mullar,Kelly Fulk,Terra Brannan,Amal Yussuf, Linda Polfus,Marcy E Richardson,Carolyn Horton

Genetics in medicine : official journal of the American College of Medical Genetics（2023）

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摘要

This analysis of the largest POT1 PV cohort to date validates the inclusion of POT1 in hereditary cancer MGPT and has the potential to impact clinical management recommendations, particularly for patients and families at risk for melanoma and sarcoma.

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关键词

Hereditary cancer,Hereditary melanoma,Hereditary sarcoma,Multigene panel testing,POT1 tumor predisposition

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