BRCA 1 & 2 Mutation (breast cancer & ovarian cancer)

Test code

OBC

Specimen

6 mL EDTA blood

Container

Purple-top (EDTA) tube

Special instructions

Nil

Collection

Nil

Causes for rejection

Frozen specimen; clotted specimen; use of improper anticoagulant; hemolysis

Description of analysis

DNA sequence analysis of BRCA1 and BRCA2 gene designed to detect 29 regions associated with hereditary breast and ovarian cancer

Test methodology

This test identifies both BRCA1 and BRCA2 mutations by high resolution DNA melting scan. Any potential mutation(s) is confirmed by direct DNA sequencing

Limitation

This assay can only detect up to 90% and 75% deleterious BRCA1 and BRCA2 mutations found in Chinese population and Caucasian population respectively. A negative result from this test cannot rule out possibility on unexamined mutations

Storage instruction

Specimen should be kept at 4°C

Reference

PLoS One 2012, 7: e43994 / Breast Cancer Information Core Database (BIC) / Lancet 2001, 358: 1389-99 / Am Journal of Human Genetics 2003, 72: 1117-30

QUESTIONS?

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