Familial breast and or ovarian cancer


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Inclusion criteria

Multiplex cases:

Proband is affected by invasive breast cancer (age <50)

– 3 family members (FDR, SDR, TDR) affected by invasive breast cancer (average age of BCs <60).

– Samples available and to be collected from >= 2 affected relatives

Proband only recruitment:

– Proband is affected by breast cancer (age <50) or ovarian cancer (any age).

– Manchester Score of family >22

– Cases of ovarian cancer (any age) and breast cancer (<40) have been confirmed.

– Ovarian cancers demonstrated to be invasive epithelial; mucinous and borderline tumours non-eligible (where histology available)

– Family is not eligible for recruitment to the multiplex families breast cancer eligibility.

– Samples to be supplied from: proband only.

Unaffected individuals should not be recruited in this disorder.

Prior genetic testing guidance

– Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.

– Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes: – BRCA1 – BRCA2

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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