Table 1 BRCAx familial breast cancer cases used in the study
Family | Cancer type | Pathology | BRCA1/2 | Exome | ||||
|---|---|---|---|---|---|---|---|---|
| Â | Â | Â | Â | Reads | Bases | Bases map rate (%) | Coverage | Variant called |
Family 1 | Â | Â | Â | Â | Â | Â | Â | Â |
 1 | Breast | Infiltrating ductal | - | 42,973,730 | 4,340,346,730 | 97.6 | 70 | 184,865 |
 2 | Breast | Not available | - | 40,158,059 | 4,055,963,959 | 98.3 | 65 | 152,692 |
 3 | Breast | Infiltrating ductal | - | 46,240,754 | 4,670,316,154 | 97.2 | 75 | 176,554 |
 4 | Prostate | Adenocarcinoma | - | 23,418,595 | 2,365,278,095 | 98.1 | 38 | 207,103 |
 5 | No Cancer |  | - | 40,313,161 | 4,071,629,261 | 98.0 | 66 | 213,347 |
 6 | Breast, Colon | Adenocarcinoma | - | 17,496,012 | 1,767,097,212 | 97.9 | 28 | 183,741 |
 7 | Brain | Not available | - | 36,166,319 | 3,652,798,219 | 99.5 | 59 | 171,425 |
 8 | Breast | Adenocarcinoma | - | 27,830,687 | 2,810,899,387 | 96.3 | 45 | 104,343 |
Family 2 | Â | Â | Â | Â | Â | Â | Â | Â |
 1 | Breast, Breast | Medullary, infiltrating ductal | - | 33,419,098 | 3,375,328,898 | 92.9 | 54 | 113,079 |
 2 | Obligated carrier |  | - | 27,261,117 | 2,753,372,817 | 92.4 | 44 | 115,328 |
 3 | Breast | Infiltrating ductal | - | 40,973,473 | 4,138,320,773 | 99.6 | 67 | 127,272 |
 4 | Breast | Ductal carcinoma in situ | - | 29,561,523 | 2,985,713,823 | 91.5 | 48 | 108,655 |
 5 | Breast | Infiltrating ductal | - | 25,790,969 | 2,604,887,869 | 93.1 | 42 | 84,687 |
 6 | Breast | Infiltrating ductal | - | 37,657,589 | 3,803,416,489 | 91.6 | 61 | 139,891 |
 7 | No Cancer |  | - | 17,433,912 | 1,760,825,112 | 91.6 | 28 | 131,786 |
 8 | No Cancer |  | - | 35,977,512 | 3,633,728,712 | 97.3 | 59 | 128,680 |
Family 3 | Â | Â | Â | Â | Â | Â | Â | Â |
 1 | Endometrial | Adenocarcinoma | - | 33,662,978 | 3,399,960,778 | 93.2 | 55 | 129,754 |
 2 | Breast, Skin | Basal, infiltrating ductal | - | 29,648,460 | 2,994,494,460 | 98.3 | 48 | 198,862 |
 3 | No Cancer |  | - | 53,411,156 | 5,394,526,756 | 98.8 | 87 | 193,017 |
 4 | Breast | Infiltrating ductal | - | 31,736,845 | 3,205,421,345 | 98.3 | 52 | 130,941 |
 5 | Breast | Ductal carcinoma in situ | - | 35,014,538 | 3,536,468,338 | 98.4 | 57 | 129,754 |
 6 | Breast | Not available | - | 38,418,769 | 3,880,295,669 | 97.5 | 62 | 161,953 |
Probands | Â | Â | Â | Â | Â | Â | Â | Â |
 1 | Breast | Ductal carcinoma in situ | - | 17,832,681 | 1,801,100,781 | 93.1 | 29 | 109,864 |
 2 | Breast | Invasive ductal carcinoma | - | 36,166,319 | 3,652,798,219 | 99.5 | 59 | 142,155 |
 3 | Breast | Invasive ductal carcinoma | - | 50,944,516 | 5,145,396,116 | 98.4 | 83 | 152,125 |
 4 | Breast | Invasive ductal carcinoma | - | 43,889,986 | 4,432,888,586 | 99.6 | 71 | 169,633 |
 5 | Breast | Invasive ductal carcinoma | - | 40,125,408 | 4,052,666,208 | 99.5 | 65 | 153,511 |
 6 | Breast | Invasive lobular carcinoma | - | 31,798,628 | 3,211,661,428 | 97.5 | 52 | 119,875 |
 7 | Breast | Invasive ductal carcinoma | - | 49,739,415 | 5,023,680,915 | 99.6 | 81 | 113,058 |
 8 | Breast | Invasive ductal carcinoma | - | 63,352,269 | 6,398,579,169 | 99.6 | 103 | 99,732 |
 9 | Breast | Invasive ductal carcinoma | - | 43,744,840 | 4,418,228,840 | 99.5 | 71 | 149,873 |
 10 | Breast | Invasive ductal carcinoma | - | 43,573,311 | 4,400,904,411 | 99.6 | 71 | 141,236 |
 11 | Breast | Invasive ductal carcinoma | - | 40,938,838 | 4,134,822,638 | 99.3 | 67 | 143,262 |
 12 | Breast | Ductal carcinoma in situ | - | 36,258,870 | 3,662,145,870 | 99.6 | 59 | 138,018 |
 13 | Breast | Ductal carcinoma in situ | - | 34,550,745 | 3,489,625,245 | 99.4 | 56 | 146,858 |
 14 | Breast | Invasive ductal carcinoma | - | 50,295,200 | 5,079,815,200 | 99.5 | 82 | 156,666 |
 15 | Breast | Invasive ductal carcinoma | - | 60,736,566 | 6,134,393,166 | 99.7 | 99 | 115,909 |
 16 | Breast | Invasive ductal carcinoma | - | 57,383,360 | 5,795,719,360 | 99.6 | 93 | 120,945 |
 17 | Breast | Invasive ductal carcinoma | - | 44,922,611 | 4,537,183,711 | 99.6 | 73 | 110,503 |
 18 | Breast | Invasive ductal carcinoma | - | 33,883,509 | 3,422,234,409 | 99.4 | 55 | 131,955 |
 19 | Breast | Invasive ductal carcinoma | - | 49,729,619 | 5,022,691,519 | 99.5 | 81 | 146,665 |
 20 | Breast | Invasive ductal carcinoma | - | 63,184,143 | 6,381,598,443 | 99.6 | 103 | 119,680 |
 21 | Breast | Invasive ductal carcinoma | - | 28,002,381 | 2,828,240,481 | 99.6 | 46 | 86,924 |
 22 | Breast | Invasive ductal carcinoma | - | 47,794,798 | 4,827,274,598 | 99.5 | 78 | 112,030 |
Average | 38,941,211 | 3,933,062,277 | 97.7 | 63 | 140,187 | Â | Â | Â |