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Clinical and molecular characteristics of somatic NF1 mutations identified on hereditary cancer multi-gene panels

Session:
#763
Date:
Thursday, Oct 18, 2018 2:00pm – 3:00pm
Conference:
ASHG 2018
Authors:
Amal Yussuf, Anton Safonov, Chia-Ling Gau, PhD, DABMG, Jill Dolinsky, Virginia Speare
Collaborators:
  • Among 153 patients found to have NF1 mutations on NGS, only about half (55%) reported a clinical diagnosis of NF1, suggesting the need for further study of the mutation only cohort to determine whether the phenotype associated with NF1 mutations is broader than originally thought, if this is a result of under diagnosis of clinical NF1, or both
  • Our data did not reveal significance evidence of a “milder” oncologic phenotype in putative mosaic NF1 patients, as compared to heterozygous cases, suggesting that suggest that mosaic NF1 may be associated with breast cancer susceptibility.