No. in the pedigree chart | Sex | Age (years) | Location of skin biopsies | Paired skin Samples | No. of somatic mutation | TMB (mutations/MB) | Somatic mutations of PTCH1 in BCC | Reads in BCC, no. | Reads in ANCT, no. | ||
---|---|---|---|---|---|---|---|---|---|---|---|
Ref. | Non-ref. | Ref. | Non-ref. | ||||||||
II. 2 | Female | 39 | Left side of the neck | II.2-1_BCC/ ANCT | 346 | 10.81 | c.391G > T (p.Glu131*) | 33 | 10 | 66 | 0 |
Abdomen | II.2-2_BCC/ANCT | 39 | 1.22 | c.3271G > C (p.Gly1091Arg) | 196 | 13 | 148 | 0 | |||
II. 4 | Female | 36 | Behind the right ear | II.4-1_BCC/ANCT | 386 | 12.06 | Negative | ||||
Back of the neck | II.4-2_BCC/ANCT | 200 | 6.25 | c.1396C > T (p.Gln466*) | 139 | 28 | 222 | 0 | |||
II. 6 | Female | 29 | Right side of the nose | II.6-1_BCC/ANCT | 567 | 17.71 | Negative | ||||
Left side of the nose | II.6-2_BCC/ANCT | 989 | 30.9 | c.1130dupA (p.Tyr379Valfs*58) | 142 | 11 | 159 | 0 |