Our Progress So Far

As of 8 July 2008 we have completed collection of $ …


Families*     1257
  with female breast cancer only 737
  with female and male breast cancer, but no ovarian cancer 63
  with female breast and ovarian cancer, but no male breast cancer 414
with female and male breast cancer and ovarian cancer 28
with ovarian cancer only 5
with male breast only 5
other (family history pending but fresh tissue available) 3
Number of individuals for whom a blood specimen is available (completed families only) 10976
Female 7285
Male 3691
Average number of bloods per completed family 8.7
Total number of participants with LCLs 836
Total reported breast cancers (verified) 6563(3599)
Average number of breast cancers per family (verified) 5.2(2.9)
Total number of Live (Proxy) Epidemiological Questionnaires# 11204(6195)
Total number of participants with...
female breast cancer only (verified) 5642(2906)
male breast cancer verified) 109(68)
ovarian cancer only (verified) 603(302)
breast plus ovarian cancer (verified) 125(88)
Families with a
Pathogenic, Large Deletion or Splice Site mutation ** 434
BRCA1 Pathogenic, Large Deletion or Splice Site mutation 236
female carriers 656
female carriers - obligate 150
male carriers 267
male carriers - obligate 50
female carriers affected with breast or ovarian cancer 554
BRCA1 Unclassified Variant 35
female carriers 76
female carriers - obligate 11
male carriers 21
male carriers - obligate 4
female carriers affected with breast or ovarian cancer 62
BRCA2 Pathogenic, Large Deletion or Splice Site mutation 199
female carriers 526
female carriers - obligate 84
male carriers 175
male carriers - obligate 39
female carriers affected with breast or ovarian cancer 386
BRCA2 Unclassified Variant 84
female carriers 153
female carriers - obligate 15
male carriers 39
male carriers - obligate 17
female carriers affected with breast or ovarian cancer 114
ATM Pathogenic Mutation 6
female carriers 20
female carriers - obligate 3
male carriers 4
male carriers - obligate 0
female carriers affected with breast or ovarian cancer 15
p53 Pathogenic Mutation 3
female carriers 3
female carriers - obligate 0
male carriers 1
male carriers - obligate 0
female carriers affected with breast or ovarian cancer 3
Families in which BRCA1/2 testing has been performed but no P, LD or Sp mutations found 720
BRCA1 Sensitivity of testing. Definitions here.
BRCA2
  Complete Very High High+MLPA High Moderate Low None
Complete 286 7 0 0 0 0 0
Very High 3 96 0 0 0 0 0
High+MLPA 5 0 113 11 2 2 0
High 0 1 2 66 1 0 2
Moderate 0 1 0 3 87 1 0
Low 0 0 1 1 3 37 11
None 0 0 0 1 0 26 0
Families not yet tested for BRCA1/2 74
Families currently undergoing classification# 25
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 4449
with female breast cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP) 3813(1178)
with male breast cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP) 81(34)
with ovarian cancer (BRCA1/2 carriers - P, SP, LGR, UV, UVP) 356(175)
Fresh tissue specimens# 685
Breast - tumour (BRCA1/2 mutation carriers) 158(57)
Breast - normal (BRCA1/2 mutation carriers) 287(141)
Ovary - tumour (BRCA1/2 mutation carriers) 16(13)
Ovary - normal (BRCA1/2 mutation carriers) 224(164)
Skin, peritoneum, liver (p53 carrier) 1
Families 'in progress'*** 86
Bloods available 289
Pathology reports available 181
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 and 2 families with a P and UV mutation
**** Family history not yet available for analysis.







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