Table 1.
Summary of (Likely) Pathogenic Variants in 14 FA genes in the different clinical groups (only women are counted).
| Clinical Suspicion | GCAT Women Cohort (n = 100) | GnomAD European >23,000 women β | Study Cohort Versus NFE γ, Non-Cancer GnomAD (OR/95%CI/p-Value) | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Genes | Pathogenic Variants | Breast (HBC) | Ovary (HOC) | Breast + Ovary (HBOC) | HNPCC α | Other | All Patients | HBC + HOC + HBOC | HBC + HBOC | ||
| FANCA | 10 | 7 | 0 | 2 | 1 | 0 | 3 | 147 | 1.94/0.91–3.7/0.047 | 2.34/1.04–4.59/0.02 | 3.14/1.4–6.17/0.003* |
| FANCL | 8 | 3 | 1 | 3 | 1 | 0 | 1 | 187 | 1.22/0.52–2.46/0.549 | 1.42/0.56–3/0.356 | 1.63/0.59–3.64/0.283 |
| FANCM | 6 | 2 | 3 | 0 | 1 | 0 | 0 | 159 | 1.07/0.38–2.39/0.828 | 1.19/0.38–2.85/0.618 | 0.63/0.08–2.34/0.774 |
| FANCI | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 25 | 1.14/0.03–7/0.593 | 1.12/0,04–9.29/0.492 | 2.02/0.05–12.4/0.399 |
| FANCE | 2 | 1 | 0 | 0 | 1 | 0 | 0 | 17 | 1.14/0.03–6.97/0.593 | 1.52/0.04–9.3/0.492 | 2.03/0.05–12.4/0.399 |
| FANCC | 2 | 1 | 1 | 0 | 0 | 0 | 0 | 44 | 1.29/0.15–4.97/0.67 | 1.72/0.2–6.63/0.332 | 1.15/0.03–6.78/0.586 |
| FANCF | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 26 | 1.09/0.02–6.6/0.608 | 1.45/0.04–8.88/0.506 | 1.94/0.05–11.87/0.412 |
| RAD51 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 4 | 7.12/0.14–72/0.159 | 9.49/0.19–96/0.122 | 12.7/ 0.26–128/0.093 |
| SLX4 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 36 | NA | NA | NA |
| ERCC4 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 22 | NA | NA | NA |
| FANCB | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | NA | NA | NA |
| FANCD2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 21 | NA | NA | NA |
| FANCG | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 43 | NA | NA | NA |
| XRCC2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 22 | NA | NA | NA |
| TOTAL | 31 | 17 | 5 | 5 | 4 | 0 | 5 | 753 | |||
α Hereditary non-polyposis colorectal cancer; β The number of GnomAD non-Finnish, non-cancer women is slightly variable per gene but in all cases was greater than 23,000 γ NFE: non-Finnish European.