Table 5.

HHMC referral for patient with a previously identified hereditary cancer syndrome

Age/Sex	Significant PMHx	Family History	Previously Identified Germline Mutation
57/M	Lifetime mild thrombocytopenia (70–90 × 109/L) Recurrent sinus infections	Daughter with lifetime severe thrombocytopenia	RUNX1 p.W279*
27/M	Lifetime mild thrombocytopenia (80–120 × 109/L) and elective surgeries complicated by major bleeding Chronic sinusitis and recurrent ear infections Presumptive dx of ITP	Son and daughter with severe thrombocytopenia identified at age 1 and 4	RUNX1 p.T104*
40/F	Age 30: Stage II ER/PR+ invasive ductal breast cancer s/p neoadjuvant Taxotere and Xeloda followed b FEC (5-FU, epirubicin and cyclophosphamide) followed by surgery, radiation therapy and Tamoxifen. Age 35: Fibromyxoid sarcoma of R thigh s/p neoadjuvant Adriamycin/ifosfamide and XRT. Age 37: Spindle cell sarcoma R thigh s/p gemcitabine and Taxotere Age 40: Acute myeloid leukemia with complex cytogenetics	Son deceased age 6 medulloblastoma Daughter deceased age 12 metastatic adrenal gland tumor Mother deceased age 35 gastric cancer Maternal grandmother deceased age 45 gastric cancer	TP53 deletion spanning exons 10 through 11 *not apparent on NGS-based AML prognostication panel
42/M	Lifetime mild thrombocytopenia (70–80 × 109/L)	Mother with AML age 60. Maternal grandmother with AML age 45. Sister and niece with lifetime thrombocytopenia	RUNX1 p.R166*