Our Progress So Far

Updated 28 March 2025

Families*     2360
  with female breast cancer only 1363
  with female and male breast cancer, but no ovarian cancer 124
  with female breast and ovarian cancer, but no male breast cancer 710
with female and male breast cancer and ovarian cancer 56
with ovarian cancer only 28
with male breast only 11
with prostate only 25
other 39
Number of individuals for whom a blood specimen is available

14696

Female 10123
Male 4573
Average number of bloods per completed family 6.2
Number of female best friend controls 234
Total number of participants with LCLs 2378
Total reported breast cancers (verified) 11556(5924)
Average number of breast cancers per family (verified) 4.9(2.5)
Total number of Live (Proxy) Epidemiological Questionnaires - Done Until August 2024 14431(6994)
Total number of Phase 1 Epidemiological Questionnaires - Done From August 2024 115
Total number of Phase 2 Epidemiological Questionnaires - Done From August 2024 443
Total number of participants with...
female breast cancer only (verified) 9882(4673)
male breast cancer verified) 215(116)
ovarian cancer only (verified) 1028(408)
breast plus ovarian cancer (verified) 209(138)
prostate cancer only (verified) 1589(521)
Families with a
ENIGMA Class 4 or Class 5 Variant ** 1144
BRCA1 Class 4 or Class 5 Variant 476
female carriers 1244
female carriers - obligate 259
male carriers 401
male carriers - obligate 104
female carriers (incl. oblig) affected with breast or ovarian cancer 1005
BRCA1 Class 3 Variant 46
female carriers 46
female carriers - obligate 0
male carriers 10
male carriers - obligate 1
female carriers (incl. oblig) affected with breast or ovarian cancer 38
BRCA2 Class 4 or Class 5 variant 503
female carriers 1185
female carriers - obligate 169
male carriers 353
male carriers - obligate 97
female carriers (incl. oblig) affected with breast or ovarian cancer 840
BRCA2 Class 3 Variant 85
female carriers 116
female carriers - obligate 4
male carriers 15
male carriers - obligate 2
female carriers (incl. oblig) affected with breast or ovarian cancer 103
ATM Class 4 or Class 5 variant 36
female carriers 81
female carriers - obligate 6
male carriers 24
male carriers - obligate 1
female carriers (incl. oblig) affected with breast or ovarian cancer 61
BRIP1 Class 4 or Class 5 variant 3
female carriers 4
female carriers - obligate 0
male carriers 2
male carriers - obligate 0
female carriers (incl. oblig) affected with breast or ovarian cancer 3
CHEK2 Class 4 or Class 5 variant 62
female carriers 110
female carriers - obligate 7
male carriers 20
male carriers - obligate 4
female carriers (incl. oblig) affected with breast or ovarian cancer 90
p53 Class 4 or Class 5 variant 19
female carriers 28
female carriers - obligate 0
male carriers 9
male carriers - obligate 0
female carriers (incl. oblig) affected with breast or ovarian cancer 22
PTEN Class 4 or Class 5 variant 5
female carriers 11
female carriers - obligate 0
male carriers 0
male carriers - obligate 0
female carriers (incl. oblig) affected with breast or ovarian cancer 7
PALB2 Class 4 or Class 5 variant 48
female carriers 101
female carriers - obligate 2
male carriers 23
male carriers - obligate 3
female carriers (incl. oblig) affected with breast or ovarian cancer 66
RAD51C/D Class 4 or Class 5 variant 11
female carriers 23
female carriers - obligate 0
male carriers 2
male carriers - obligate 0
female carriers (incl. oblig) affected with breast or ovarian cancer 12
Participants with a Polygenic Risk Score 2837
Pathology reports collected for participants
Total reports 14949
with female breast cancer (BRCA1/2 carriers - Class 4 or Class 5 variant) 7508(5770)
with male breast cancer (BRCA1/2 carriers -Class 4 or Class 5 variant) 180(124)
with ovarian cancer (BRCA1/2 carriers - Class 4 or Class 5 variant) 538(362)
with prostate cancer (BRCA1/2 carriers - Class 4 or Class 5 variant) 650(124)
Participants with tissue specimens Fresh

243
Archival

1461
Breast - tumour (BRCA1/2 Class 4 or Class 5 variant carriers) 101(28) 1014(281)
Breast - normal (BRCA1/2 Class 4 or Class 5 variant carriers) 99(66) 255(127)
Ovary - tumour (BRCA1/2 Class 4 or Class 5 variant carriers) 4(4) 30(13)
Ovary - normal (BRCA1/2 Class 4 or Class 5 variant carriers) 5(2) 67(57)
Prostate - tumour (BRCA1/2 Class 4 or Class 5 variant carriers) 6(2) 105(64)
Prostate - normal (BRCA1/2 Class 4 or Class 5 variant carriers) 1(1) 3(3)
Rapid Post-mortem collections 51
Tissue Microarrays 38
Familial Breast Cancer (BRCA1, BRCA2, BRCAX) 30
Familial Prostate Cancer 2
Sporadic Breast Cancer 1
Familial Breast and Ovarian Cancer - metastatic tissue collected at autopsy 1
Normal Tissue 4
Medicare/PBS Consents^ 597
Notes:
* Verified and Unverified cancers.
** Some families carry more than one mutation. All families have had at least 1 family member undergo panel testing covering 8-300 genes.
^ Data available includes treatments, procedures and health economic data for the previous 5 years.