Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome

Table 1 Somatic PTCH1 mutations found in four of the six paired BCC samples

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.
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	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
II. 2	Female	39	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
II. 4	Female	36	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
II. 6	Female	29	Left side of the nose	II.6-2_BCC/ANCT	989	30.9	c.1130dupA (p.Tyr379Valfs*58)	142	11	159	0

non-ref. non-reference; ref. reference; TMB tumor mutation burden; MB mega base

ISSN: 1755-8794