Our Progress So Far

As of 26 July 2010 we have completed collection of $ …


Families*     1357
  with female breast cancer only 803
  with female and male breast cancer, but no ovarian cancer 75
  with female breast and ovarian cancer, but no male breast cancer 435
with female and male breast cancer and ovarian cancer 31
with ovarian cancer only 5
with male breast only 6
other (family history pending but fresh tissue available) 2
Number of individuals for whom a blood specimen is available (completed families only)

11968
Female 7989
Male 3979
Average number of bloods per completed family 8.8
Number of female best friend controls 231
Total number of participants with LCLs 1258
Total reported breast cancers (verified) 7284(4070)
Average number of breast cancers per family (verified) 5.4(3.0)
Total number of Live (Proxy) Epidemiological Questionnaires# 12168(6549)
Total number of participants with...
female breast cancer only (verified) 6239(3261)
male breast cancer verified) 127(82)
ovarian cancer only (verified) 623(297)
breast plus ovarian cancer (verified) 130(95)
Families with a
Pathogenic, Large Deletion or Splice Site mutation ** 499
BRCA1 Pathogenic, Large Deletion or Splice Site mutation 270
female carriers 812
female carriers - obligate 211
male carriers 322
male carriers - obligate 74
female carriers (incl. oblig) affected with breast or ovarian cancer 691
BRCA1 Unclassified Variant 50
female carriers 66
female carriers - obligate 8
male carriers 18
male carriers - obligate 3
female carriers (incl. oblig) affected with breast or ovarian cancer 55
BRCA2 Pathogenic, Large Deletion or Splice Site mutation 232
female carriers 645
female carriers - obligate 122
male carriers 233
male carriers - obligate 64
female carriers (incl. oblig) affected with breast or ovarian cancer 485
BRCA2 Unclassified Variant 94
female carriers 142
female carriers - obligate 9
male carriers 29
male carriers - obligate 11
female carriers (incl. oblig) affected with breast or ovarian cancer 116
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 838
 
Sensitivity of Testing
 

Definitions here.
Straddie 1 On Entry
BRCA1
BRCA2

  Complete Very High High+MLPA High Moderate Low None
Complete 246 4 1 0 0 0 0
Very High 0 25 0 0 0 0 0
High+MLPA 2 0 97 2 0 2 0
High 0 0 1 22 1 0 2
Moderate 1 0 1 0 49 1 0
Low 0 0 1 0 1 46 1
None 0 0 0 0 0 1 0

Straddie 1B On Entry
BRCA1
BRCA2

  Complete Very High High+MLPA High Moderate Low None
Complete 48 1 0 0 0 0 0
Very High 0 8 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 1 22 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 25 0 0 0 0 0 0
Very High 0 1 0 0 0 0 0
High+MLPA 0 0 26 0 0 0 0
High 0 0 1 1 0 0 0
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
20
Families currently undergoing classification# 13
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 9062
with female breast cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 4575(1514)
with male breast cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 111(52)
with ovarian cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP, DIV) 364(202)
Fresh tissue specimens# 836
Breast - tumour (BRCA1/2 mutation carriers) 209(83)
Breast - normal (BRCA1/2 mutation carriers) 380(194)
Ovary - tumour (BRCA1/2 mutation carriers) 14(12)
Ovary - normal (BRCA1/2 mutation carriers) 233(179)
Skin, peritoneum, liver (p53 carrier) 1
Families 'in progress'*** 96
Bloods available 260
Pathology reports available 285
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.