Our Progress So Far

As of 16 February 2010 we have completed collection of $ …


Families*     1341
  with female breast cancer only 788
  with female and male breast cancer, but no ovarian cancer 75
  with female breast and ovarian cancer, but no male breast cancer 433
with female and male breast cancer and ovarian cancer 30
with ovarian cancer only 6
with male breast only 6
other (family history pending but fresh tissue available) 3
Number of individuals for whom a blood specimen is available (completed families only) 11820
Female 7877
Male 3943
Average number of bloods per completed family 8.8
Number of female best friend controls 227
Total number of participants with LCLs 1195
Total reported breast cancers (verified) 7141(3975)
Average number of breast cancers per family (verified) 5.3(4.9)
Total number of Live (Proxy) Epidemiological Questionnaires# 12046(6526)
Total number of participants with...
female breast cancer only (verified) 6127(3199)
male breast cancer verified) 126(82)
ovarian cancer only (verified) 617(296)
breast plus ovarian cancer (verified) 129(92)
Families with a
Pathogenic, Large Deletion or Splice Site mutation ** 482
BRCA1 Pathogenic, Large Deletion or Splice Site mutation 264
female carriers 783
female carriers - obligate 206
male carriers 316
male carriers - obligate 70
female carriers (incl. oblig) affected with breast or ovarian cancer 665
BRCA1 Unclassified Variant 45
female carriers 83
female carriers - obligate 13
male carriers 20
male carriers - obligate 5
female carriers (incl. oblig) affected with breast or ovarian cancer 67
BRCA2 Pathogenic, Large Deletion or Splice Site mutation 220
female carriers 599
female carriers - obligate 108
male carriers 210
male carriers - obligate 54
female carriers (incl. oblig) affected with breast or ovarian cancer 444
BRCA2 Unclassified Variant 101
female carriers 183
female carriers - obligate 15
male carriers 44
male carriers - obligate 18
female carriers (incl. oblig) affected with breast or ovarian cancer 136
ATM Pathogenic Mutation 7
female carriers 26
female carriers - obligate 4
male carriers 6
male carriers - obligate 1
female carriers (incl. oblig) affected with breast or ovarian cancer 19
p53 Pathogenic Mutation 3
female carriers 3
female carriers - obligate 0
male carriers 1
male carriers - obligate 0
female carriers (incl. oblig) affected with breast or ovarian cancer 3
Families in which BRCA1/2 testing has been performed but no P, LD or Sp mutations found 834
 
Sensitivity of Testing
 

Definitions here.
Straddie 1 On Entry
BRCA1
BRCA2

  Complete Very High High+MLPA High Moderate Low None
Complete 244 6 1 0 0 0 0
Very High 0 25 0 0 0 0 0
High+MLPA 2 0 96 4 0 2 0
High 0 0 0 23 1 0 2
Moderate 1 0 1 1 51 1 0
Low 0 0 1 0 2 42 2
None 0 0 0 0 0 1 0

Straddie 1B On Entry
BRCA1
BRCA2

  Complete Very High High+MLPA High Moderate Low None
Complete 47 1 0 0 0 0 0
Very High 0 8 0 0 0 0 0
High+MLPA 1 0 33 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 1 19 2
None 0 0 0 0 0 0 0

Straddie 4 On Entry
BRCA1
BRCA2

  Complete Very High High+MLPA High Moderate Low None
Complete 13 0 0 0 0 0 0
Very High 0 2 0 0 0 0 0
High+MLPA 0 0 31 0 0 0 0
High 0 0 1 1 0 0 0
Moderate 0 0 0 0 5 0 0
Low 0 0 0 0 0 17 1
None 0 0 0 0 0 0 0

Families not yet tested for BRCA1/2
25
Families currently undergoing classification# 21
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 8822
with female breast cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 4481(1482)
with male breast cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 110(50)
with ovarian cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 357(196)
Fresh tissue specimens# 800
Breast - tumour (BRCA1/2 mutation carriers) 195(74)
Breast - normal (BRCA1/2 mutation carriers) 359(181)
Ovary - tumour (BRCA1/2 mutation carriers) 14(12)
Ovary - normal (BRCA1/2 mutation carriers) 232(174)
Skin, peritoneum, liver (p53 carrier) 1
Families 'in progress'*** 85
Bloods available 250
Pathology reports available 271
Notes:
$ All data for completed families unless otherwise specified
# Data includes incomplete families
* Verified and Unverified cancers.
** 1 Family with a Pathogenic mutation in BRCA1 and BRCA2, 6 families with a P and UV mutation, 10 families with a UV mutation in BRCA1 and BRCA2.
**** Family history not yet available for analysis.







The information provided on the kConFab Home Page is for information only, and is not a substitute for talking to a health professional.