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. |