Clinical Indication ID & Name
Inherited breast cancer and ovarian cancer
Test Group
Core
Specialties
Test code
R208.1
Test name
N/A
Target genes
BRCA1;BRCA2;PALB2; ATM; CHEK2; RAD51C; RAD51D
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
1. Living affected individual (proband) with breast or ovarian cancer where the individual +/- family history meets one of the criteria. The proband has:
a. Breast cancer (age <40 years, excluding grade 1 breast cancers), OR
b. Bilateral breast cancer (age < 50 years), OR
c. Triple negative breast cancer (age < 60 years), OR
d. Male breast cancer (any age), OR
e. Breast cancer (age <45 years) and a first degree relative with breast cancer (age <45 years), OR
f. Combined pathology-adjusted Manchester score ≥15 or single gene pathology adjusted score of
≥10 or BOADICEA/CanRisk score ≥10%
g. Ashkenazi Jewish ancestry and breast cancer at any age
2. Living affected individual with pancreatic cancer AND family history of breast/ ovarian/prostate
cancer with a pathology adjusted Manchester score of ≥ 15/CanRisk score of 10%.
3. Living affected individual with prostate cancer AND a family history of breast/ovarian/pancreatic cancer with a pathology adjusted Manchester score of ≥ 15/CanRisk score of 10%.
4. Deceased affected individual with breast or ovarian cancer with:
a. A stored DNA, blood or tissue sample available for DNA extraction, AND
b. Pathology-adjusted Manchester score ≥17 or CanRisk score ≥15%, AND
c. No living affected individual is available for genetic testing
5. Living unaffected individual with:
a. first degree relative affected by breast or serous ovarian cancer, AND
b. Combined pathology-adjusted Manchester score ≥20 or BOADICEA/CanRisk score of ≥20% for affected relative or BOADICEA/CanRisk score of ≥10% for unaffected relative AND
c. No living affected individual is available for genetic testing, AND
d. No deceased affected individual with tumour material available for testing
Note for living unaffected individuals:
Where more than one family member may be eligible for unaffected testing, the residual probability of a causative pathogenic variant in the family should be considered, taking into account prior normal unaffected tests.
NOTES
• The proband's cancer and majority of reported cancers in the family should have been confirmed
• The pathology adjusted Manchester score involved incorporation of pathology data for the tested proband alone, i.e. pathology need not be sought for other family members.
• Ovarian cancer: Fallopian Tube and Primary Peritoneal cancers can be included
• BRCA1/BRCA2 testing has not previously been performed
• Testing of unaffected and deceased individuals can only be offered by Clinical Genetics
Test code
R208.2
Test name
N/A
Target genes
BRCA1;BRCA2;PALB2; ATM; CHEK2; RAD51C; RAD51D
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Living affected individual (proband) with breast or ovarian cancer where the individual +/- family history meets one of the criteria. The proband has:
a. Breast cancer (age <40 years, excluding grade 1 breast cancers), OR
b. Bilateral breast cancer (age < 50 years), OR
c. Triple negative breast cancer (age < 60 years), OR
d. Male breast cancer (any age), OR
e. Breast cancer (age <45 years) and a first degree relative with breast cancer (age <45 years), OR
f. Combined pathology-adjusted Manchester score ≥15 or single gene pathology adjusted score of
≥10 or BOADICEA/CanRisk score ≥10%
g. Ashkenazi Jewish ancestry and breast cancer at any age
2. Living affected individual with pancreatic cancer AND family history of breast/ ovarian/prostate
cancer with a pathology adjusted Manchester score of ≥ 15/CanRisk score of 10%.
3. Living affected individual with prostate cancer AND a family history of breast/ovarian/pancreatic cancer with a pathology adjusted Manchester score of ≥ 15/CanRisk score of 10%.
4. Deceased affected individual with breast or ovarian cancer with:
a. A stored DNA, blood or tissue sample available for DNA extraction, AND
b. Pathology-adjusted Manchester score ≥17 or CanRisk score ≥15%, AND
c. No living affected individual is available for genetic testing
5. Living unaffected individual with:
a. first degree relative affected by breast or serous ovarian cancer, AND
b. Combined pathology-adjusted Manchester score ≥20 or BOADICEA/CanRisk score of ≥20% for affected relative or BOADICEA/CanRisk score of ≥10% for unaffected relative AND
c. No living affected individual is available for genetic testing, AND
d. No deceased affected individual with tumour material available for testing
Note for living unaffected individuals:
Where more than one family member may be eligible for unaffected testing, the residual probability of a causative pathogenic variant in the family should be considered, taking into account prior normal unaffected tests.
NOTES
• The proband's cancer and majority of reported cancers in the family should have been confirmed
• The pathology adjusted Manchester score involved incorporation of pathology data for the tested proband alone, i.e. pathology need not be sought for other family members.
• Ovarian cancer: Fallopian Tube and Primary Peritoneal cancers can be included
• BRCA1/BRCA2 testing has not previously been performed
• Testing of unaffected and deceased individuals can only be offered by Clinical Genetics
Commissioning group
Core
Overlapping idications
• M2 Ovarian carcinoma should be used for somatic testing • M3 Breast cancer 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
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