Clinical Indication ID & Name
Inherited ovarian cancer (without breast cancer)
Test Group
Core
Specialties
Test code
R207.1
Test name
N/A
Target genes
Inherited ovarian cancer (without breast cancer) (143)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
High grade non mucinous epithelial ovarian cancer (EOC) OR serous tubal intraepithelial carcinoma
a. b. 2. Epithelial ovarian cancer (EOC) OR serous tubal intraepithelial carcinoma (STIC) AND
≥1 first degree relative with EOC OR serous tubal intraepithelial carcinoma (STIC) , OR
≥1 second degree relative with EOC OR serous tubal intraepithelial carcinoma (STIC) (intervening
relative without ovaries or deceased) OR
c. ≥2 second / third degree relatives with EOC OR serous tubal intraepithelial carcinoma (STIC)
Deceased affected individual (proband) can be tested if:
a. A previously stored constitutional DNA/blood sample is available AND
i. eligibility criteria 1 OR 2 are reached,
AND
ii. No living affected individual is available for genetic testing
OR
b. If no stored constitutional DNA/blood sample is available, but appropriate tissue is available
(tumour or normal) AND
i. Criteria 2 are reached OR pathology-adjusted Manchester score ≥17 or
BOADICEA/CanRisk score of ≥15% for affected deceased relative
AND
ii. No living affected individual is available for genetic testing
NOTE: The proband’s cancer and majority of reported cancers in the family should have been confirmed
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist
MDT with a cancer geneticist present
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.
Test code
R207.2
Test name
N/A
Target genes
Inherited ovarian cancer (without breast cancer) (143)
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
High grade non mucinous epithelial ovarian cancer (EOC) OR serous tubal intraepithelial carcinoma
a. b. 2. Epithelial ovarian cancer (EOC) OR serous tubal intraepithelial carcinoma (STIC) AND
≥1 first degree relative with EOC OR serous tubal intraepithelial carcinoma (STIC) , OR
≥1 second degree relative with EOC OR serous tubal intraepithelial carcinoma (STIC) (intervening
relative without ovaries or deceased) OR
c. ≥2 second / third degree relatives with EOC OR serous tubal intraepithelial carcinoma (STIC)
Deceased affected individual (proband) can be tested if:
a. A previously stored constitutional DNA/blood sample is available AND
i. eligibility criteria 1 OR 2 are reached,
AND
ii. No living affected individual is available for genetic testing
OR
b. If no stored constitutional DNA/blood sample is available, but appropriate tissue is available
(tumour or normal) AND
i. Criteria 2 are reached OR pathology-adjusted Manchester score ≥17 or
BOADICEA/CanRisk score of ≥15% for affected deceased relative
AND
ii. No living affected individual is available for genetic testing
NOTE: The proband’s cancer and majority of reported cancers in the family should have been confirmed
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist
MDT with a cancer geneticist present
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.
Commissioning group
Core
Overlapping idications
• M2 Ovarian carcinoma should be used for somatic testing
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection Samples may be rejected for the following reasons: 1. Samples and request form do not show at least three identical patient identifiers 2. The sample is in the incorrect collection media 3. The request form is not sufficiently completed 4. The sample is not of sufficient volume 5. The sample is too old