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Table 2 Family history of carriers of truncating variants

From: Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

Case Varianta Diagnosis Family history first-degree relatives Family history other relatives
HAPS-102285 p.Gln66* Breast 41 NA NA
HAPS-60382 p.Gln66* Breast 43 Mother breast 61; father prostate 65 Paternal: 2 x 2nd 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
  1. NA not applicable, HNSCC head and neck squamous cell carcinoma, NHL non-Hodgkin lymphoma
  2. aNovel variants in italics