References
Overview
BRCA TESTING USING BLOOD AND TUMOUR SAMPLES
Germline mutations [1]
Mutations described as germline are replicated in every cell of the body. This reflects their origin in the DNA within germinal cells (eggs or sperm) and the resulting transmission to progeny at conception. Inherited (germline) BRCA mutations account for the majority of familial ovarian cancer. [2]
Somatic mutations [3]
Genetic alteration acquired by a cell that can be passed to the progeny of the mutated cell in the course of cell division. These alterations can (but do not always) cause cancer or other diseases. Somatic mutations are non-heritable.
TUMOUR TESTING ACCOUNTS FOR GERMLINE AND SOMATIC MUTATIONS
Tumour Testing
BRCA mutations detected in DNA extracted from a sample of tumour tissue can be either germline or somatic.
A subsequent blood test can determine whether the mutation is germline or somatic [4]
Blood testing
DNA extracted from a blood sample can be used to determine the presence of germline BRCA mutation(s).
[1]
[2]
[3]
[4]
Overview
References
Tumour testing and somatic BRCA mutations
Tumour testing is required to detect somatic BRCA mutations.
Veeva ID: Z4-10833 Date of preparation: May 2018; Date of expiry: May 2020
Why test tumour samples first
A BRCA testing algorithm that begins with tumour testing can be advantageous.
Veeva ID: Z4-10833 Date of preparation: May 2018; Date of expiry: May 2020