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Cancer risks in Jewish male BRCA1 and BRCA2 mutation carriers

Yael Laitman 1, Lital Keinan Boker 3,4 , Irena Liphsitz 3, Daphna Weissglas-Volkov 2, Shira Litz-Philipsborn 1, Hagit Schayek 1, Eitan Friedman 1,2

From 1 the Susanne Levy Gertner Oncogenetics unit, Institute of Human Genetics, Sheba medical center and 2 the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv and 3 the Israel National Cancer Registry (INCR), Ministry of Health, Jerusalem and 4 the School of Public Health, Haifa University, Haifa, Israel

Address correspondence to

Eitan Friedman, MD PhD

Head, the Susanne Levy Gertner Oncogenetics Unit

The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center

Tel-Hashomer, 52621, Israel

Tel Int 972-3-530-3173; FAX Int -972-3-535-7308

E mails - or or

Supplementary Table 1: Mutation spectrum and ethnicity of the study population

total / ethnicity / Mutation / Gene
150
Age range 22-82 (mean +- SD – 47.3 + 13.4 years) / 87 Ashkenazi
16 Iraqi
3 Balkans
5 mixed / 185delAG (n=111) / BRCA1
20 Ashkenazi
5 mixed / 5382insC (n=25) / BRCA1
5 Persians
1 mixed / Y978X (n=6) / BRCA1
0 / 4153delA / BRCA1
2 Syrians
1 mixed / P1812A (n=3) / BRCA1
1 mixed / C61G (n=1) / BRCA1
3 Balkans / A1708E (n=3) / BRCA1
1 Libyan / 981delAT (n=1) / BRCA1
88
Age range 25-88 (mean + SD – 49.7 + 14.5 years)* / 72 Ashkenazi
6 mixed / 6174delT (n=78) / BRCA2
4 Yemenites / 8765delAG (n=4) / BRCA2
1 Balkan / R2336P (n=1) / BRCA2
2 Ashkenazi
1 Balkan / 5164del4 (n=3) / BRCA2
2 Balkans / IVS2+1 A->G (n=2) / BRCA2
2 / 1 Ashkenazi / 185delAG + 6174delT (n=1) / BRCA1+2
1 Ashkenazi / 5382insC + 6174delT (n=1) / BRCA1+2

* Age range for non carriers true negative was 25-85 (mean + SD 49.3 + 11.9 years)

Supplementary Table 2: Cancer types, mutation and age at diagnosis for carriers and true negative controls

BRCA1 / Cancer at time of counseling
13 men 16 cancer diagnoses / Ages (years) / mutation / Cancer diagnosed after counseling
2 men 2 cancer diagnoses / Ages (years) / mutation
Pancreatic cancer
(N=3) / 55
70
69 / 185delAG
185delAG
5382insC / Bladder cancer
(N=1) / 76 / A1812P
Prostate cancer
(N=3) / 69
54
66 / 185delAG
185delAG
5382insC / Pancreatic cancer
(N=1) / 65 / 185delAG
Breast cancer
(N=1) / 39 / 185delAG
Lung cancer
(N=1) / 54 / 185delAG
Colorectal cancer
(N=2) / 54
61 / 185delAG
981delAT
Esophageal cancer
(N=1) / 88 / 185delAG
Bladder cancer (N=2) / 64
82 / 185delAG
185delAG
Osteosarcoma
(N=1) / 23 / 185delAG
Malignant Melanoma
(N=1) / 24 / 185delAG
Gastrointestinal cancer (N=1) / 55 / 5382insC
BRCA2 / Cancer at time of counseling
17 men 24 cancer diagnoses / Ages (years) / mutation / Cancer diagnosed after counseling
9 men 9 cancer diagnoses / Ages (years) / mutation
Breast cancer
(N=4) / 69
61
64
63 / 6174delT
6174delT
6174delT
R2336P / Prostate cancer
(N=3) / 71
75
58 / 6174delT
6174delT
6174delT
Prostate cancer
(N=5) / 74
57
48
85
52 / 6174delT
6174delT
6174delT
6174delT
5164del4 / Kidney cancer
(N=1) / 57 / 6174delT
Parotid gland cancer
(N=1) / 73 / 6174delT / Colorectal cancer
(N=1) / 67 / 6174delT
Colorectal cancer
(N=1) / 66 / 6174delT / Vocal cord cancer
(N=1) / 56 / 6174delT
Pancreatic cancer
(N=5) / 62
48
65
67
58 / 6174delT
6174delT
6174delT
6174delT
6174delT / Non-Hodgkin lymphoma
(N=2) / 45
76 / 6174delT
6174delT
Malignant Melanoma
(N=3) / 52
62
37 / 6174delT
6174delT
6174delT / Malignant Melanoma
(N=1) / 52 / 6174delT
Cholangiocarcinoma
(N=1) / 65 / 6174delT
Esophagageal cancer
(N=1) / 65 / 6174delT
Testicular cancer
(N=2) / 26
29 / 6174delT
6174delT
Kidney cancer
(N=1) / 48 / 6174delT
Non carriers / Cancer at time of counseling
14 men 16 cancer diagnoses / Ages (years) / Cancer diagnosed after counseling
1 man 1 cancer diagnosis / Ages (years)
Lung cancer
(N=1) / 62 / Pancreatic cancer
(N=1) / 43
Breast cancer
(N=1) / 69
Kidney cancer
(N=1) / 59
Prostate cancer
(N=3) / 57
64
69
Stomach cancer
(N=2) / 44
48
Pancreatic cancer
(N=1) / 81
Malignant melanoma
(N=1) / 81
Thyroid cancer
(N=1) / 62
Colorectal cancer
(N=2) / 69
63
Tongue cancer
(N=1) / 46
Parotid gland cancer
(N=1) / 79
Sarcoma
(N=1) / 51