BRCA testing using blood and tumour samples

Germline mutationsREF

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.REF

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Somatic mutationsREF

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.

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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.REF

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Blood testing

DNA extracted from a blood sample can be used to determine the presence of germline BRCA mutation(s).

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Tumour testing and somatic BRCA mutations

Tumour testing is required to detect somatic BRCA mutations.

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Why test tumour samples first

A BRCA testing algorithm that begins with tumour testing can be advantageous.

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