Last Updated: 09/26/2026
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Found 15 publications
Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome.
Journal: Frontiers in oncology
Published: October 13, 2022
Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period.
Journal: JCO precision oncology
Published: July 24, 2020
Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis.
Journal: Familial cancer
Published: June 08, 2020
A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somatically.
Journal: Human mutation
Published: December 10, 2018
Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle.
Journal: Future oncology (London, England)
Published: August 17, 2018
Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing.
Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology
Published: October 06, 2017
Identification of pathogenic retrotransposon insertions in cancer predisposition genes.
Journal: Cancer genetics
Published: February 01, 2017
Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.
Journal: BMC cancer
Published: August 06, 2014
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
Journal: Cancer
Published: April 18, 2014
Last Updated: 09/26/2026