Our Progress So Far

As of 16 Jan 2012 we have completed collection of $ …


Families*     1482
  with female breast cancer only 866
  with female and male breast cancer, but no ovarian cancer 81
  with female breast and ovarian cancer, but no male breast cancer 482
with female and male breast cancer and ovarian cancer 31
with ovarian cancer only 7
with male breast only 6
other (family history pending but fresh tissue available) 8
Number of individuals for whom a blood specimen is available (completed families only)

12521
Female 8376
Male 4145
Average number of bloods per completed family 8.4
Number of female best friend controls 234
Total number of participants with LCLs 1552
Total reported breast cancers (verified) 7920(4370)
Average number of breast cancers per family (verified) 5.3(2.9)
Total number of Live (Proxy) Epidemiological Questionnaires# 12939(6727)
Total number of participants with...
female breast cancer only (verified) 6788(3501)
male breast cancer verified) 135(86)
ovarian cancer only (verified) 692(314)
breast plus ovarian cancer (verified) 148(105)
Families with a
Pathogenic, Large Deletion or Splice Site mutation ** 565
BRCA1 Pathogenic, Large Deletion or Splice Site mutation 300
female carriers 879
female carriers - obligate 219
male carriers 344
male carriers - obligate 79
female carriers (incl. oblig) affected with breast or ovarian cancer 741
BRCA1 Unclassified Variant 61
female carriers 78
female carriers - obligate 9
male carriers 20
male carriers - obligate 4
female carriers (incl. oblig) affected with breast or ovarian cancer 68
BRCA2 Pathogenic, Large Deletion or Splice Site mutation 270
female carriers 751
female carriers - obligate 146
male carriers 270
male carriers - obligate 75
female carriers (incl. oblig) affected with breast or ovarian cancer 567
BRCA2 Unclassified Variant 108
female carriers 150
female carriers - obligate 8
male carriers 26
male carriers - obligate 10
female carriers (incl. oblig) affected with breast or ovarian cancer 129
ATM Pathogenic Mutation 7
female carriers 29
female carriers - obligate 4
male carriers 6
male carriers - obligate 1
female carriers (incl. oblig) affected with breast or ovarian cancer 20
p53 Pathogenic Mutation 6
female carriers 7
female carriers - obligate 0
male carriers 2
male carriers - obligate 0
female carriers (incl. oblig) affected with breast or ovarian cancer 6
Families in which BRCA1/2 testing has been performed but no P, LD or Sp mutations found 852
 
Sensitivity of Testing
 

Definitions here.
Straddie 1 On Entry
BRCA1
BRCA2

  Complete Very High High+MLPA High Moderate Low None
Complete 265 4 1 0 0 0 0
Very High 0 27 0 0 0 0 0
High+MLPA 2 0 102 2 0 2 0
High 0 0 0 24 1 0 1
Moderate 1 0 1 0 37 1 0
Low 0 0 0 0 1 39 0
None 0 0 0 0 0 1 0

Straddie 1B On Entry
BRCA1
BRCA2

  Complete Very High High+MLPA High Moderate Low None
Complete 49 1 0 0 0 0 0
Very High 0 9 0 0 0 0 0
High+MLPA 1 0 32 0 1 0 0
High 0 1 0 0 0 0 0
Moderate 0 0 0 0 19 0 0
Low 0 0 0 0 2 19 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 31 0 0 0 0 0 0
Very High 0 2 0 0 0 0 0
High+MLPA 0 0 32 0 0 0 0
High 0 0 0 0 0 0 1
Moderate 0 0 0 0 4 0 0
Low 0 0 0 0 0 19 1
None 0 0 0 0 0 0 1

Families not yet tested for BRCA1/2
62
Families currently undergoing classification# 9
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 9923
with female breast cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 4994(2478)
with male breast cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 119(70)
with ovarian cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 394(238)
Fresh tissue specimens# 912
Breast - tumour (BRCA1/2 mutation carriers) 232(94)
Breast - normal (BRCA1/2 mutation carriers) 429(233)
Ovary - tumour (BRCA1/2 mutation carriers) 16(14)
Ovary - normal (BRCA1/2 mutation carriers) 235(181)
Skin, peritoneum, liver (p53 carrier) 1
Tissue Microarrays 24
Families 'in progress'*** 71
Bloods available 217
Pathology reports available

245

 
Notes:
$ All data for completed families unless otherwise specified
# Data includes incomplete families
* Verified and Unverified cancers.
** 7 Families with >1 Pathogenic mutation, 4 families with a P and UV mutation, 10 families with >1 UV mutation.
**** Family history not yet available for analysis.







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