Our Progress So Far

As of 18 Sep 2017 we have completed collection of $


Families*     1780
  with female breast cancer only 1032
  with female and male breast cancer, but no ovarian cancer 103
  with female breast and ovarian cancer, but no male breast cancer 570
with female and male breast cancer and ovarian cancer 44
with ovarian cancer only 9
with male breast only 7
other (family history pending but fresh tissue available) 15
Number of individuals for whom a blood specimen is available (completed families only)

13852

Female 9375
Male 4477
Average number of bloods per completed family 7.8
Number of female best friend controls 234
Total number of participants with LCLs

2117

Total reported breast cancers (verified) 9624(5238)
Average number of breast cancers per family (verified) 5.4(3.0)
Total number of Live (Proxy) Epidemiological Questionnaires# 13775(6994)
Total number of participants with...
female breast cancer only (verified) 8181(4126)
male breast cancer verified) 177(103)
ovarian cancer only (verified) 829(373)
breast plus ovarian cancer (verified) 172(125)
Families with a
Pathogenic, Large Deletion or Splice Site mutation ** 724
BRCA1 Pathogenic, Large Deletion or Splice Site mutation 372
female carriers 1059
female carriers - obligate 246
male carriers 382
male carriers - obligate 97
female carriers (incl. oblig) affected with breast or ovarian cancer 884
BRCA1 Unclassified Variant 51
female carriers 67
female carriers - obligate 3
male carriers 15
male carriers - obligate 2
female carriers (incl. oblig) affected with breast or ovarian cancer 49
BRCA2 Pathogenic, Large Deletion or Splice Site mutation 334
female carriers 916
female carriers - obligate 165
male carriers 310
male carriers - obligate 96
female carriers (incl. oblig) affected with breast or ovarian cancer 692
BRCA2 Unclassified Variant 86
female carriers 142
female carriers - obligate 4
male carriers 19
male carriers - obligate 3
female carriers (incl. oblig) affected with breast or ovarian cancer 111
ATM Pathogenic Mutation 10
female carriers 35
female carriers - obligate 6
male carriers 1
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 29
p53 Pathogenic Mutation 8
female carriers 12
female carriers - obligate 0
male carriers 4
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 13
female carriers 36
female carriers - obligate 2
male carriers 14
male carriers - obligate 2
female carriers (incl. oblig) affected with breast or ovarian cancer 26
Families in which BRCA1/2 testing has been performed but no P, LD or Sp mutations found 994
 
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 58 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

83
Families currently undergoing classification# 1
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 12648
with female breast cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 6412(3656)
with male breast cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 156(94)
with ovarian cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 487(312)
Fresh tissue specimens# 1341
Breast - tumour (BRCA1/2 mutation carriers) 266(103)
Breast - normal (BRCA1/2 mutation carriers) 527(325)
Ovary - tumour (BRCA1/2 mutation carriers) 18(17)
Ovary - normal (BRCA1/2 mutation carriers) 235(181)
Prostate - tumour (BRCA1/2 mutation carriers) 23(7)
Prostate - normal (BRCA1/2 mutation carriers) 8(5)
Rapid Post-mortem collections 17
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^ 448
Families 'in progress'*** 14
Bloods available 34
Pathology reports available 43
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.