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Table 3 Positive findings grouped by cancer type

From: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

Cancer type Number (%) Genes with clinically significant variants detected
Gastrointestinal 271 (33.6) APC, AXIN2, CDH1, MLH1, MSH2, MSH6, MUTYH, PMS2
Breast 260 (32.2) ATM, BARD1, CHEK2, NBN, PALB2, TP53
Breast and ovarian 114 (14.1) BRCA1, BRCA2
Melanoma/skin 43 (5.3) CDKN2A, MITF, TGFBR1 (MSSE)
Ovarian 37 (4.6) BRIP1, RAD51C, RAD51D
Endocrine 33 (4.1) MEN1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD
Prostate 27 (3.3) HOXB13
CNS 11 (1.4) NF1, NF2§, TSC1, VHL
Others 6 (0.7) BAP1, RB1, SMARCB1
Renal 5 (0.6) FH, FLCN
  1. CNS central nervous system
  2. Indications of higher risk from screening genes associated with hereditary cancer syndromes were most commonly related to gastrointestinal, breast, ovarian, and skin cancers. The genetic changes recorded here for each gene represent a heterozygous finding associated with an autosomal dominant condition, or a single heterozygous variant in the MUTYH gene. Certain genetic changes in the TGFBR1 gene can cause multiple self-healing squamous epithelioma (MSSE), which was classified as a hereditary cancer risk
  3. CDH1 is also associated with breast cancer risk
  4. TP53 is associated with Li-Fraumeni syndrome, which is associated with multiple cancer types
  5. §NF2 is associated with non-malignant nervous system tumors