Our Progress So Far

Updated 23 Apr 2026

Families*     2473
  with female breast cancer only 1419
  with female and male breast cancer, but no ovarian cancer 128
  with female breast and ovarian cancer, but no male breast cancer 744
with female and male breast cancer and ovarian cancer 58
with ovarian cancer only 39
with male breast only 12
with prostate only 28
other 41
Number of individuals for whom a blood specimen is available

14867
Female 10292
Male 4575
Average number of bloods per completed family 6.0
Number of female best friend controls 234
Total number of participants with LCLs 2378
Total reported breast cancers (verified) 11887(5981)
Average number of breast cancers per family (verified) 4.8(2.4)
Total number of Live (Proxy) Epidemiological Questionnaires - Done Until August 2024 14431(6994)
Total number of Phase 1 Epidemiological Questionnaires - Done From August 2024 283
Total number of Phase 2 Epidemiological Questionnaires - Done From August 2024 548
Total number of participants with...
female breast cancer only (verified) 10179(4721)
male breast cancer verified) 222(116)
ovarian cancer only (verified) 1077(411)
breast plus ovarian cancer (verified) 223(139)
prostate cancer only (verified) 1648(524)
Families with a
ENIGMA Class 4 or Class 5 Variant ** 1276
BRCA1 Class 4 or Class 5 Variant 531
female carriers 1324
female carriers - obligate 259
male carriers 403
male carriers - obligate 104
female carriers (incl. oblig) affected with breast or ovarian cancer 1021
BRCA1 Class 3 Variant 46
female carriers 47
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 560
female carriers 1226
female carriers - obligate 169
male carriers 353
male carriers - obligate 97
female carriers (incl. oblig) affected with breast or ovarian cancer 849
BRCA2 Class 3 Variant 87
female carriers 118
female carriers - obligate 4
male carriers 15
male carriers - obligate 2
female carriers (incl. oblig) affected with breast or ovarian cancer 105
ATM Class 4 or Class 5 variant 40
female carriers 85
female carriers - obligate 6
male carriers 26
male carriers - obligate 1
female carriers (incl. oblig) affected with breast or ovarian cancer 63
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 69
female carriers 116
female carriers - obligate 7
male carriers 22
male carriers - obligate 4
female carriers (incl. oblig) affected with breast or ovarian cancer 93
p53 Class 4 or Class 5 variant 21
female carriers 30
female carriers - obligate 0
male carriers 9
male carriers - obligate 0
female carriers (incl. oblig) affected with breast or ovarian cancer 24
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 49
female carriers 102
female carriers - obligate 2
male carriers 23
male carriers - obligate 3
female carriers (incl. oblig) affected with breast or ovarian cancer 67
RAD51C/D Class 4 or Class 5 variant 13
female carriers 25
female carriers - obligate 0
male carriers 2
male carriers - obligate 0
female carriers (incl. oblig) affected with breast or ovarian cancer 13
Participants with a Polygenic Risk Score 2837
Pathology reports collected for participants
Total reports 15275
with female breast cancer (BRCA1/2 carriers - Class 4 or Class 5 variant) 7620(5839)
with male breast cancer (BRCA1/2 carriers -Class 4 or Class 5 variant) 182(129)
with ovarian cancer (BRCA1/2 carriers - Class 4 or Class 5 variant) 540(366)
with prostate cancer (BRCA1/2 carriers - Class 4 or Class 5 variant) 656(129)
Participants with tissue specimens Fresh

304		 Archival

1486
Breast - tumour (BRCA1/2 Class 4 or Class 5 variant carriers) 111(30) 1035(287)
Breast - normal (BRCA1/2 Class 4 or Class 5 variant carriers) 153(99) 255(126)
Ovary - tumour (BRCA1/2 Class 4 or Class 5 variant carriers) 4(4) 33(14)
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) 106(65)
Prostate - normal (BRCA1/2 Class 4 or Class 5 variant carriers) 1(1) 3(3)
Rapid Post-mortem collections 54
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^ 599
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.