Breast and Ovarian Cancer

Published 22/04/2010

Breast and Ovarian Cancer
NGS panel

Genes
(full coding
region):		 ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MSH2, MSH6, MUTYH, PALB2, PTEN, STK11, TP53

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Sequencing of BRCA1, BRCA2 genes

Genes
(full coding
region):		 BRCA1, BRCA2
Lab method: NGS
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Del/dup analysis 

Genes: BRCA1, BRCA2, CHEK2
Lab method: MLPA
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

500 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Testing of individuals with early-age-onset of breast or ovarian cancer
2. Testing of individuals with family history of breast or ovarian cancer
3. Testing of at-risk family members for known mutations
3. Genetic counseling

Testing should be performed if there is a family history of breast or ovarian cancer, genetic alterations have been found in the family, or there is a history of breast cancer in males in the family.

Breast and ovarian cancers are most strongly associated with mutations of the BRCA1 and BRCA2 genes. Among women who have a clinically important BRCA gene mutation, the lifetime risk of developing breast and/or ovarian cancer can reach 80%. Cancer-predisposing mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant manner. The prognosis for breast cancer survival depends upon the stage at which breast cancer is diagnosed.