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Additional file 1 of Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort

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Figshare2022-06-07 更新2026-04-28 收录
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https://figshare.com/articles/dataset/Additional_file_1_of_Observational_study_of_population_genomic_screening_for_variants_associated_with_endocrine_tumor_syndromes_in_a_large_healthcare-based_cohort/20012198
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Additional file 1: Table S1. Details of Participants Identified Via MyCode and Participants Previously Clinically Identified Stratified by Variant. *Families based on genetic-relatedness data. Table S2. Participants Identified Via MyCode Meeting Cancer Genetics Referral Criteria. aThe American College of Medical Genetics and Genomics and National Society of Genetic Counselors publication summarizing cancer genetics referral guidelines states that a referral for cancer genetics should be considered for probands with a personal history of renal cancer before age 50 or a first degree relative with such a history. While SDHB is not listed in the example conditions that could be associated with such a history in those guidelines, SDHB has been associated with renal cancer risk since the 2000s and, as such, has been on renal cancer genetic testing panels for some time. As such, the genetic counselor reviewers counted this as meeting referral criteria for cancer genetics evaluation.
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2022-06-07
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