Table 1.

Patients with pathogenic/likely pathogenic germline mutations

CaseGermline mutationSomatic eventFamily history of cancerAge at Dx (y)
0400094_T2ATM (p.D1013fs)Nonsense mutationMother: breast cancer51
CDKN2A (p.G101W)NoneFather: melanoma
0400209_T1ATM (splice site)NoneNo family history61
0400235_T1ATM (p.E1978*)NoneMother: breast cancer65
Maternal uncle: melanoma
0400027_T1BRCA2 (p.S1982fs)LOHSister: breast cancer64
0400067_T1BRCA2 (p.S1982fs)LOHMaternal half-brother: melanoma59
Maternal half-sister: colon cancer
Paternal grandfather: unknown primary cancer
0400078_T1BRCA2 (p.W1692Mfs*3)LOHFather: melanoma and prostate cancer39
Paternal aunt 1: breast cancer
Paternal aunt 2: brain cancer
Paternal grandmother: lung cancer
0400075_T1BRCA1 (p.Q1756fs)LOHMother: ovarian cancer58
Maternal grandmother: ovarian cancer
0400242_T1BRCA1 (p.T276Afs*14)LOHMother: breast cancer63
Brother: pancreatic cancer
0400124_T1CHEK2 (Ex2_3del)LOHMother: breast cancer73
Father: prostate cancer
Brother: prostate cancer
Paternal grandfather: colon cancer
Maternal grandmother: intra-abdominal/pelvic cancer
0400215_T1BLM (p.P1320fs)NoneBrother: glioblastoma53
Father: lung cancer
Maternal grandmother: brain cancer
0400214_T1FANCA (p.Q343*)NoneSister: ovarian cancer59
0400164_T1FANCL (p.T367fs)NoneNo family history70
0400192_T1RAD50 (p.S653*)NoneDaughter: lung cancer67
  • NOTE: Family history was obtained by review of the patient's medical records. The following samples harbor Ashkenazi Jewish founder mutations: 0400027_T1, 0400067_T1, and 0400075_T1.

  • Abbreviation: Dx, diagnosis.