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MOLECULAR GENETICS - TESTS BREAST CANCER |
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Background:
Familial breast cancer accounts for approximately 5% of all breast
cancers. Mutations in two genes (BRCA1 and BRCA2) have been identified
that predispose to cancer. These mutations are inherited in an autosomal
dominant pattern.
Familial breast cancer is characterised by the development of breast
cancer at a young age (under 50 years) in several close family members.
Other identifying features include ovarian cancer, bilaterality, and
male breast cancer.
An individualised screening programme is recommended for those
identified as affected or at risk of familial breast cancer.
Women with a strong family history of breast cancer may benefit from
assessment of risk. The assessment process involves constructing a 2 - 3
generation family tree detailing the development of cancer. From this,
the risk to others in the family may be deduced. A referral to the
Northern Regional Genetic Service will facilitate a risk assessment and
is mandatory before testing can be carried out.
In some instances this risk can be clarified by genetic testing. Genetic
testing is accompanied by genetic counselling so that the implications
of testing can be discussed and consent given prior to obtaining the
blood sample.
Analysis:
BRCA 1 testing is divided into three steps:
- Ex13 duplication assay
- Heteroduplex assay which detects mutations in exons 2, 6, 11a,11b,11c,11d,13
and 20
- Exon by exon sequencing of entire coding region
BRCA2 testing is divided into two steps:
- 6174del T assay
- Exon by exon sequencing of entire coding region
Speciment Requirements:
Blood: 3 x 4.0mL whole blood into EDTA tubes . Invert several times to
mix. Forward within 24-48 hours at ambient temperature.
NOTE:
In some instances this risk can be clarified by genetic testing. Genetic
testing is accompanied by genetic counseling so that the implications of
testing can be discussed and consent given prior to obtaining the
blood sample.
Usual test turnaround time:
24 weeks once sample is received. Please refer to the document for more information.
Cost of test:
BRCA 1:
Ex13 duplication assay $190.21
Heteroduplex assay $209.68
Exon by Exon Sequencing $2865.36
BRCA 2:
6174delT assay $209.68
Exon by Exon Sequencing $2865.36 Note: Prices
excludes GST (12.5%) and may change without notice.
Please click on a link below to view information
about another specific test.
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