- Proband only (index case does not qualify under family history criteria) N.B. young cancer plus family history would be recruited under the family history category
- Proband has developed a common adult cancer diagnosed at age 30 or younger; this category is for cancer that are typically of later onset e.g. breast, colorectal, renal, lung.
- Individuals with syndromic disease should be recruited according to standard guidance, typically as trios.
- In other cases, unaffected individuals should not be recruited. Singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.
- Probands with tumours of characteristically young onset tumours such as germ cell tumours (teratoma, seminoma), osteosarcoma and Hodgkins disease.
- Borderline or mucinous ovarian tumours
- Squamous cervical cancer
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 of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: As dictated by the tumour type.
- Breast cancer: BRCA1, BRCA2, TP53 (for HER2+ cancers); Colorectal cancer: mutYH, FAP, hMLH1, hMSH2 (depending on cancer features including IHC and MSI);
- Lung cancer: TP53;
- Serous ovarian cancer: BRCA1, BRCA2
These requirements will be kept under continual review during the main programme and may be subject to change.« Back to Disease List