Table 3.
Positive findings grouped by cancer type
| 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 |
CNS central nervous system
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
†CDH1 is also associated with breast cancer risk
‡TP53 is associated with Li-Fraumeni syndrome, which is associated with multiple cancer types
§NF2 is associated with non-malignant nervous system tumors