Table 5 Clinically actionable variants and associated family history in the average FH risk cohort

176

ATM c.8545C>T p.R2849X*

Father d. heart failure 80y, sister dx breast cancer, brother dx hypertension

67

ATM c.8435_8436del p.S2812fs*

Father dx hypertension 60s, high cholesterol and heart attack d.70s, lung disease 80s, mother dx hypertension 50s and high cholesterol 60s, maternal grandmother dx colorectal cancer and hypertension 50s, maternal grandmother d. lung disease 80s, paternal grandmother dx lung disease d.60s

53

BLM c.1291_1292InsTCAGGCCTCCATAGA

Mother dx slight stroke 70s d.85y, daughter dx thyroid issues 25y

15

BRCA2 c.9684delT p.S3229fs*

Father dx high blood sugar 58y, paternal grandfather dx. lung cancer 50s d.50s, paternal aunt dx diabetes 50s, paternal uncle dx colorectal cancer/liver cancer 60s

767

BRCA2 c.5576_5577del p.T1859fs*

Father dx heart disease adolescence and hypertension 60s d.60s, mother dx hypertension, diabetes and diabetic kidney disease 70s, sister dx hypertension 60s, maternal grandmother dx breast cancer 60s

750

BRCA2 c.7805+3A>C

Father dx prostate issues and heart attack 60s, mother dx thyroid disease 50s and hypertension 60s, maternal grandmother d. stroke 60s, patneral grandmother d. lung disease 80s, paternal aunt dx Parkinson disease 70s

637

BRIP1 c.1343G>A p.W448X

Father dx hypertension, mother dx diabetes d.55y, 2 sisters dx diabetes

169

DICER1 c.1353_1360del p.R451fs*

Father dx hypertension 70s and lung cancer 80s, mother dx hypertension, obesity and rheumatoid arthritis 70s, maternal aunt 3 dx colorectal 80s d.80s, 1 paternal aunt d. stroke 60s, 1 paternal  aunt dx breast cancer 60s d.60s

2

GPC3 c.67C>T p.Q23X

Father dx hypertension 40s, paternal grandmother d. heart attack 60s

76

LZTR1 c.1018C>T p.R340X

Mother dx high cholesterol 70s, maternal aunt dx ischaemic stroke 70s

81

LZTR1 c.465C>G p.Y155X*

Father dx hypertension 40s and heart disease 60s, mother dx high cholesterol and diabetes 50, maternal grandmother dx diabetes 80s, paternal grandmother dx liver cancer 70s d.80s, paternal uncle dx hypertension 60s

454

RAD50 c.2165delA p.L722fs*

Father dx COPD, mother dx cervical cancer 50s, maternal uncle dx prostate cancer 50s, paternal grandmother dx diabetes d. diabetes-related complications 80s, paternal grandfather dx unknown cancer d.90s, paternal uncle dx diabetes

281

RAD51C c.394dupA p.G132fs*

Maternal grandfather d. unknown cancer 50s, brother dx unknown liver condition 30s

662

RAD51D c.330_331insTA p.K111fs

Father dx with hypertension, mother dx with diabetes

118

RAD51D c.330_331insTA p.K111fs*

Father dx heart attack 79y, mother dx hypertension and diabetes, 1 sister dx hypertension, 1 sister dx unknown cancer 63y

671

RAD51D c.330_331insTA p.K111fs*

Father dx bladder cancer 65y and stroke 80y d.85y, mother dx transient ischemic attack 93y, brother dx hypertension and colorectal cancer 76y d.76y, sister dx fibroids and had thyroidectomy

64

XRCC2 c.280dupA p.T94fs

Father dx ?lung/throat cancer 50s d.59y