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Table 1 BRCAx familial breast cancer cases used in the study

From: Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer

Family Cancer type Pathology BRCA1/2 Exome
     Reads Bases Bases map rate (%) Coverage Variant called
Family 1         
 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         
 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         
 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         
 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