Table 4 Availability of germline DNA specimens and epidemiological data
Family ascertainment categorya | Review pending | Total | |||||||
|---|---|---|---|---|---|---|---|---|---|
1 | 1B | 2 | 3 | 4 | 5 | 0 | |||
Number of families | 292 | 113 | 217 | 2 | 25 | 8 | 140 | 25 | 822 |
Number of samples | |||||||||
From females (affected) | 2,118 (735) | 577 (215) | 1,239 (385) | 19 (6) | 45 (21) | 22 (12) | 621 (179) | 124 (44) | 4,765 (1597) |
From males (affected) | 1,179 (7) | 274 (6) | 759 (5) | 5 (0) | 28 (0) | 14 (0) | 322 (4) | 43 (0) | 2,624 (22) |
Totalb | 3,297 | 851 | 1,998 | 24 | 73 | 36 | 943 | 167 | 7,389 |
Number of epidemiological questionnaires | |||||||||
Females (affected) | 2,033 (703) | 526 (193) | 1,226 (386) | 18 (13) | 31 (13) | 18 (9) | 585 (163) | 100 (37) | 4,537 (1510) |
Males (affected) | 1,122 (5) | 262 (6) | 745 (5) | 5 (0) | 18 (0) | 11 (0) | 303 (3) | 36 (0) | 2,502 (19) |
Totalc | 3,155 | 788 | 1971 | 23 | 49 | 29 | 888 | 136 | 7,039d |
Number of proxy epidemiological questionnaires | |||||||||
Female (affected) | 889(460) | 226 (81) | 694 (410) | 48 (1) | 25 (13) | 7 (4) | 382 (160) | 53 (31) | 2,284 (1160) |
Male (affected) | 862 (7) | 206 (3) | 608 (9) | 11 (0) | 18 (0) | 5 (0) | 336 (1) | 53 (1) | 2,099 (21) |
Totale | 1,751 | 432 | 1,302 | 19 | 43 | 12 | 718 | 106 | 4,383 |