Table 2 Family history of carriers of truncating variants

HAPS-102285

p.Gln66*

Breast 41

NA

NA

HAPS-60382

p.Gln66*

Breast 43

Mother breast 61; father prostate 65

Paternal: 2 x 2^nd cousins breast 42, 37; 3 x great aunt breast 42, 47,58; grandfather prostate 71. Maternal: grandmother other 60

HAPS-90978

p.Thr193Asnfs*2

Bilateral breast 61

Sister breast 60s; sister breast 60s

HAPS-90809

p.Gly232Argfs*3

Bilateral breast 41, 47

Father lung 68

Cousin breast 45, maternal grandmother bowel 60

HAPS-120272

p.Ser254Ilefs*3

Breast 35, ovarian 58

2 x Sisters breast 40s; brother renal 52; brother HNSCC 50s; father other

Cousin breast 50s.

HAPS-102573

p.Ser288Lysfs*15

Breast 63

NA

NA

HAPS-114269

p.Pro656Glnfs*11

Breast 46, ovarian 49

Mother unknown primary 45

Maternal aunt breast 50s; grandmother breast 60s; maternal uncle prostate 70s

HAPS-120953

p.Gln797Hisfs*54

Breast 46

Father melanoma 62

half-brother NHL 64; half-brother bladder 55; maternal cousin breast 41; maternal aunt breast 55

HAPS-81242

p.Ala995Cysfs*16

Bilateral breast 46, 70

Sister breast 38; daughter breast 47; daughter cervical 24; mother breast 39

Paternal cousin breast 60s; maternal cousin other

HAPS-121549

p.Trp1038*

Breast 56

Sister breast 44

Maternal aunt breast 50s; paternal grandmother breast

HAPS-110283

p.Trp1038*

Breast 46

Mother breast 57

Maternal: aunt bowel 50; great-grandmother ovarian. Paternal: grandmother breast 85, grandfather bowel 60

HAPS-100240

p.His1170Phefs*19

Breast 48

Mother breast 68

Maternal grandmother AML 72; paternal cousin ovarian 36.

HAPS-110583

p.Tyr1183*

Breast 39

Mother breast 80; father bowel 69

Maternal aunt bilateral breast 50,70; maternal grandfather prostate 80

FCC-681-000

p.Gln60Argfs*7

Breast 47

Breast >40

FCC-2121-000

p.Gly796*

Breast 62

Lung/prostate

Prostate, other x 2

FCC-1423-000

p.Trp1038*

Breast 44

Breast >40, bowel, other

Breast >40

FCC-2104-000

p.Trp1038*

Breast 38

Breast >40, other x 2

Other

FCC-2677-000

p.Trp1038*

Cervix 55, breast 65, 67, 68, bowel 67

Breast >40, ovarian

Lung, other

FCC-3527-000

p.Trp1038*

Breast 37

Other

FCC-60-000

p.Trp1038*

Thyroid 42, breast 48, 51

Breast >40, bowel

Breast x 2 ovarian, prostate x 2, lung, other x 2

FCC-905-000

p.Asn1039Ilefs*2

Melanoma 39, breast 47

Lung, prostate, other

Breast x 3, bowel x 2, ovarian

FCC-2965-000

p.Arg1086*

Bilateral breast 44

Prostate

FCC-317-000

p.Gly1121Valfs*3

Breast 31

Other x 2

Breast, other

FCC-1322-000

p.Glu650Argfs*13

Breast 50

Breast, other

Breast x 3, other

FCC-3397-000

p.Ser254Ilefs*3

Melanoma 53, Breast 54, 61

Breast

FCC_2431-000

p.Arg175Thrfs*9

Breast 42

Breast, other x 3

Breast x 3, lung, other x 2

Controls

Variant

Age enrolled

Family history first-degree relatives

Family history other relatives

LP-12031915

p.Trp1038*

65

Mother, other 58; father lung 64; brother other

Maternal aunt breast >40

LP-13099711

p.Asn1039Ilefs*2

73

Mother breast 72

Maternal: grandmother breast >40 yrs; aunt breast

LP-13243620

p.Glu990Asnfs*3

73

Mother breast 82

NA

LP-12025195

p.Gly1121Valfs*3

48

None

Yes, no details