Our Progress So Far

As of 7 Mar 2018 we have completed collection of $


Families*     1796
  with female breast cancer only 1040
  with female and male breast cancer, but no ovarian cancer 105
  with female breast and ovarian cancer, but no male breast cancer 574
with female and male breast cancer and ovarian cancer 44
with ovarian cancer only 10
with male breast only 7
other (family history pending but fresh tissue available) 16
Number of individuals for whom a blood specimen is available (completed families only)

13900

Female 9411
Male 4489
Average number of bloods per completed family 7.7
Number of female best friend controls 234
Total number of participants with LCLs

2167

Total reported breast cancers (verified) 9679(5264)
Average number of breast cancers per family (verified) 5.4(2.9)
Total number of Live (Proxy) Epidemiological Questionnaires# 13812(6994)
Total number of participants with...
female breast cancer only (verified) 8225(4146)
male breast cancer verified) 179(104)
ovarian cancer only (verified) 839(376)
breast plus ovarian cancer (verified) 174(125)
Families with a
Pathogenic, Large Deletion or Splice Site mutation ** 748
BRCA1 Pathogenic, Large Deletion or Splice Site mutation 373
female carriers 1063
female carriers - obligate 246
male carriers 373
male carriers - obligate 99
female carriers (incl. oblig) affected with breast or ovarian cancer 885
BRCA1 Unclassified Variant 37
female carriers 34
female carriers - obligate 9
male carriers 1
male carriers - obligate 1
female carriers (incl. oblig) affected with breast or ovarian cancer 30
BRCA2 Pathogenic, Large Deletion or Splice Site mutation 346
female carriers 927
female carriers - obligate 168
male carriers 320
male carriers - obligate 96
female carriers (incl. oblig) affected with breast or ovarian cancer 703
BRCA2 Unclassified Variant 67
female carriers 100
female carriers - obligate 4
male carriers 14
male carriers - obligate 3
female carriers (incl. oblig) affected with breast or ovarian cancer 85
ATM Pathogenic Mutation 10
female carriers 35
female carriers - obligate 6
male carriers 8
male carriers - obligate 1
female carriers (incl. oblig) affected with breast or ovarian cancer 25
CHEK2 Pathogenic Mutation 44
female carriers 44
female carriers - obligate 6
male carriers 9
male carriers - obligate 3
female carriers (incl. oblig) affected with breast or ovarian cancer 30
p53 Pathogenic Mutation 7
female carriers 12
female carriers - obligate 0
male carriers 6
male carriers - obligate 0
female carriers (incl. oblig) affected with breast or ovarian cancer 10
PTEN Pathogenic Mutation 2
female carriers 8
female carriers - obligate 0
male carriers 0
male carriers - obligate 0
female carriers (incl. oblig) affected with breast or ovarian cancer 4
PALB2 Pathogenic Mutation 14
female carriers 37
female carriers - obligate 2
male carriers 14
male carriers - obligate 2
female carriers (incl. oblig) affected with breast or ovarian cancer 26
Participants with a Polygenic Risk Score 2837
Families in which BRCA1/2 testing has been performed but no P, LD or Sp mutations found 996
 
Sensitivity of Testing
 

Definitions here.

Straddie 1 On Entry
BRCA1
BRCA2

  Complete Very High High+MLPA High Moderate Low None
Complete 438 3 0 0 0 0 0
Very High 0 56 0 0 0 0 0
High+MLPA 1 0 28 1 0 0 0
High 0 0 0 7 0 0 0
Moderate 0 0 0 0 17 0 0
Low 0 0 0 0 0 5 0
None 0 0 1 0 0 0 0

Straddie 1B On Entry
BRCA1
BRCA2

  Complete Very High High+MLPA High Moderate Low None
Complete 96 0 0 0 0 0 0
Very High 0 16 0 0 0 0 0
High+MLPA 0 0 11 0 0 0 0
High 0 0 0 0 0 0 0
Moderate 0 0 0 0 2 0 0
Low 0 0 0 0 1 5 0
None 0 0 0 0 0 0 0

Straddie 4 On Entry
BRCA1
BRCA2

  Complete Very High High+MLPA High Moderate Low None
Complete 83 0 0 0 0 0 1
Very High 0 11 0 0 0 0 0
High+MLPA 0 0 15 0 0 0 0
High 0 0 0 1 0 0 0
Moderate 0 0 0 0 5 0 0
Low 0 0 0 0 0 4 0
None 0 0 0 1 0 2 2

Families not yet tested for BRCA1/2

89
Families currently undergoing classification# 73
BRCA1/2-negative families analysed by haplotyping using BRCA1/2 linked markers 168
BRCA1 haplotypes shared 34
BRCA2 haplotypes shared 19
BRCA1 and BRCA2 haplotypes shared 16
Neither BRCA1 or BRCA2 haplotypes shared 99
Pathology reports collected for participants
Total reports 12801
with female breast cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 6467(3738)
with male breast cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 157(98)
with ovarian cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 491(316)
Fresh tissue specimens# 1372
Breast - tumour (BRCA1/2 mutation carriers) 268(104)
Breast - normal (BRCA1/2 mutation carriers) 534(333)
Ovary - tumour (BRCA1/2 mutation carriers) 18(17)
Ovary - normal (BRCA1/2 mutation carriers) 235(180)
Prostate - tumour (BRCA1/2 mutation carriers) 24(12)
Prostate - normal (BRCA1/2 mutation carriers) 8(5)
Rapid Post-mortem collections 19
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^ 473
Families 'in progress'*** 0
Bloods available 0
Pathology reports available 0
Notes:
$ All data for completed families unless otherwise specified.
# Data includes incomplete families.
* Verified and Unverified cancers.
** Some families carry more than one mutation.
**** Family history not yet available for analysis.
^ Data available includes treatments, procedures and health economic data for the previous 5 years.