Our Progress So Far

As of 16 November 2018 we have completed collection of $


Families*     1848
  with female breast cancer only 1074
  with female and male breast cancer, but no ovarian cancer 106
  with female breast and ovarian cancer, but no male breast cancer 585
with female and male breast cancer and ovarian cancer 46
with ovarian cancer only 10
with male breast only 8
other (family history pending but fresh tissue available) 19
Number of individuals for whom a blood specimen is available (completed families only)

13980

Female 9480
Male 4500
Average number of bloods per completed family 7.6
Number of female best friend controls 234
Total number of participants with LCLs

2278

Total reported breast cancers (verified) 9875(5370)
Average number of breast cancers per family (verified) 5.4(2.9)
Total number of Live (Proxy) Epidemiological Questionnaires# 14070(6977)
Total number of participants with...
female breast cancer only (verified) 8394(4228)
male breast cancer verified) 183(108)
ovarian cancer only (verified) 855(381)
breast plus ovarian cancer (verified) 177(128)
Families with a
Pathogenic, Large Deletion or Splice Site mutation ** 773
BRCA1 Pathogenic, Large Deletion or Splice Site mutation 386
female carriers 1082
female carriers - obligate 251
male carriers 377
male carriers - obligate 101
female carriers (incl. oblig) affected with breast or ovarian cancer 902
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 357
female carriers 953
female carriers - obligate 168
male carriers 327
male carriers - obligate 96
female carriers (incl. oblig) affected with breast or ovarian cancer 723
BRCA2 Unclassified Variant 65
female carriers 92
female carriers - obligate 4
male carriers 14
male carriers - obligate 3
female carriers (incl. oblig) affected with breast or ovarian cancer 79
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 18
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 10
female carriers 17
female carriers - obligate 0
male carriers 9
male carriers - obligate 0
female carriers (incl. oblig) affected with breast or ovarian cancer 14
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 15
female carriers 39
female carriers - obligate 2
male carriers 14
male carriers - obligate 2
female carriers (incl. oblig) affected with breast or ovarian cancer 28
Participants with a Polygenic Risk Score 2837
Families in which BRCA1/2 testing has been performed but no P, LD or Sp mutations found 1017
 
Sensitivity of Testing
 

Definitions here.

Straddie 1 On Entry
BRCA1
BRCA2

  Complete Very High High+MLPA High Moderate Low None
Complete 437 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

20
Families currently undergoing classification# 122
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 13192
with female breast cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 6638(3816)
with male breast cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 166(105)
with ovarian cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 503(322)
Fresh tissue specimens# 1420
Breast - tumour (BRCA1/2 mutation carriers) 269(105)
Breast - normal (BRCA1/2 mutation carriers) 558(351)
Ovary - tumour (BRCA1/2 mutation carriers) 18(17)
Ovary - normal (BRCA1/2 mutation carriers) 235(181)
Prostate - tumour (BRCA1/2 mutation carriers) 27(15)
Prostate - normal (BRCA1/2 mutation carriers) 8(5)
Rapid Post-mortem collections 25
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^ 474
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.