Patient
Melanoma history Age at Diagnosis
Germline genetic testing completed
Pathogenic results
Family history of melanoma
1
Malignant Melanoma
16
63 gene pan cancer panel
PMS2 c.1831dupA (p.Ile611AsnfsTer2); PMS2 c.736_741delinsTGTGTGTGAAG (p.Pro246Cysfs) Yes Maternal Grandfather died at the age of 56 from metastatic malignant melanoma
2
Spitzoid Melanoma
9
12 gene melanoma panel 180k Oligo Chromosome Microarray Analysis
0.634-0.775Mb loss at 17q21.31
No
3 Spitzoid Melanoma 2 78 gene pan cancer panel ATM c.2250G>A (p.Lys750=) No
4 Spitzoid Melanoma 11 8 gene melanoma panel + BRIP1 BRIP1 c.2053C>T (p.Gln685*) No
5 Malignant Melanoma 7 TP53 sequencing TP53 c.638G>A (p.(Arg213Gln) (R213Q) No