Table 2.
Number and percentage of cancer cases and families studied per article and by study phase.
| Number (%) of articles | |||
|---|---|---|---|
| Discovery | Independent replication | Technical validation | |
| Number of cancer cases | |||
| 2-3 | 62 (33%) | 0 (0%) | 41 (22%) |
| 4-10 | 38 (20%) | 3 (2%) | 48 (26%) |
| 11-50 | 39 (21%) | 17 (9%) | 35 (19%) |
| 51-100 | 19 (10%) | 10 (9%) | 4 (2%) |
| 101-1000 | 22 (12%) | 43 (23%) | 3 (2%) |
| >1000 | 6 (3%) | 34 (18%) | 1 (1%) |
| Not stated | 0 (0%) | 0 (0%) | 26 (14%) |
| Total* | 186 (100%) | 107 (57%) | 158 (85%) |
| Number of high-risk families | |||
| 1 | 73 (39%) | 3 (2%) | |
| 2-10 | 27 (15%) | 6 (3%) | |
| 11-50 | 40 (22%) | 23 (12%) | |
| 51-100 | 10 (5%) | 8 (4%) | |
| 101-1000 | 6 (3%) | 23 (12%) | |
| >1000 | 2 (1%) | 5 (3%) | |
| Not stated | 2 (1%) | 4 (2%) | |
| Total* | 160 (86%) | 72 (39%) | |
| Average number of sequenced cases per family | |||
| 1 | 49 (26%) | 56 (30%) | |
| 2 | 66 (35%) | 10 (5%) | |
| 3 | 27 (15%) | 1 (1%) | |
| 4 | 10 (5%) | 1 (1%) | |
| 5 | 4 (2%) | 0 (0%) | |
| 6-7 | 3 (2%) | 0 (0%) | |
| Not stated | 1 (1%) | 5 (2%) | |
| Total* | 160 (86%) | 72 (39%) | |
*
Some totals do not add to 100% because: 15% of articles did not perform technical validation; 43% of articles did not perform independent replication; 14% of articles did not include familial cases in the discovery phase; 61% of articles did not perform independent replication in familial cases.