Table 2. Clinical presentations and identified germline mutations of each individual.
Individual | Sex | Age (y) | Age at onset (y) | Histology | Tumor stage | Mutant gene | MutCount/ Sequencing depth | Amino acid change and origin | SRA accession numbers | Hom/Het |
---|---|---|---|---|---|---|---|---|---|---|
I:1 | F | 83 | 82 | Lung adenocarcinoma | Ⅳ | WRN | 345/738 | N1370Tfs*23, Mat | SRR1563024 | Het |
DICER1 | 113/255 | N1112D, Mat | Het | |||||||
ELAC2 | 135/255 | Y83C, Mat | Het | |||||||
Ⅱ:1 | F | 54 | 52 | Endometrial cancer | Ⅱ | WRN | 396/888 | N1370Tfs*23, Mat | SRR1563027 | Het |
ELAC2 | 132/255 | Y83C, Mat | Het | |||||||
Ⅱ:2 | F | 52 | 50 | Lung adenocarcinoma | Ⅳ | WRN | 304/723 | N1370Tfs*23, Mat | SRR1563036 | Het |
DICER1 | 107/208 | N1112D, Mat | Het | |||||||
ELAC2 | 140/255 | Y83C, Mat | Het | |||||||
Ⅱ:3 | F | 50 | No evidence of cancer | ELAC2 | 134/255 | Y83C, Mat | SRR1563037 | Het | ||
Ⅱ:4 | F | 47 | No evidence of cancer | ELAC2 | 131/255 | Y83C, Mat | SRR1563039 | Het | ||
Ⅱ:5 | F | 45 | No evidence of cancer | WRN | 58/148 | N1370Tfs*23, Mat | SRR1563041 | Het | ||
ELAC2 | 46/85 | Y83C, Mat | Het |
F, female; Mat, maternal family; Hom/Het, homozygote/heterozygote; SRA, Sequence Read Archive.