Table 1.
Case | Sex | Age at diagnosis | Cancer history | Colorectal polyps | Family history | MUTYH NM_001128425.1 variants identified | Zygosity | Results of RNA analysis | Other variants identified |
---|---|---|---|---|---|---|---|---|---|
1 | F | Early 30s | Colon cancer | No report of polyps | Pancreatic, head and neck, gastric, and breast cancers | c.934-2A > G | Heterozygous | r.934_942del9 (in-frame deletion of 9 nt in exon 11) | None |
2 | F | No data | No personal history of cancer | 7–8 polyps | Breast, pancreatic, prostate cancers, and lymphoma; possible colon and stomach cancers | c.934-2A > G | Heterozygous | r.934_942del9 (in-frame deletion of 9 nt in exon 11) | VUS in RAD50 |
(VUS) Variant of uncertain significance.