Clinical Indication ID & Name
Li Fraumeni Syndrome
Test Group
Inherited cancer
Specialties
Test code
R216.1
Test name
N/A
Target genes
TP53
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Living affected individual (proband) where the individual +/- family history meets ONE of the criteria.
The proband has:
1. Rhabdomyosarcoma (≤ 5 years),
2. Rhabdomyosarcoma of embryonal anaplastic subtype (any age)
3. Adrenocortical cancer (any age),
4. Choroid plexus cancer (any age),
5. Breast cancer (≤ 30 years),
6. Triple positive breast cancer (≤ 35 years),
7. Hypodiploid acute lymphoblastic leukaemia (<18 years)
8. SHH medulloblastoma (<18 years)
9. Jaw osteosarcoma (<18 years)
10. ≥2 LFS-related cancers (both occurring ≤ 46 years; two breast cancers not eligible),
11. ≥1 LFS-related cancer with ≥1 first / second degree relative with ≥1 LFS-related cancer (one case ≤ 46 years, the other case ≤ 56 years; two breast cancers not eligible),
12. Cancer with ≥2 first / second degree relatives with cancer; across the family there is:
i. 1 individual with sarcoma ≤ 45 years, AND
ii. 1 individual with any cancer ≤ 45 years, AND
iii. 1 individual with either a sarcoma OR any cancer occurring ≤ 45 years
Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing
LFS-related cancers comprise: soft tissue sarcomas, osteosarcomas, adrenocortical carcinoma, central nervous system tumours and breast cancers.
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
Test code
R216.2
Test name
N/A
Target genes
TP53
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Living affected individual (proband) where the individual +/- family history meets ONE of the criteria.
The proband has:
1. Rhabdomyosarcoma (≤ 5 years),
2. Rhabdomyosarcoma of embryonal anaplastic subtype (any age)
3. Adrenocortical cancer (any age),
4. Choroid plexus cancer (any age),
5. Breast cancer (≤ 30 years),
6. Triple positive breast cancer (≤ 35 years),
7. Hypodiploid acute lymphoblastic leukaemia (<18 years)
8. SHH medulloblastoma (<18 years)
9. Jaw osteosarcoma (<18 years)
10. ≥2 LFS-related cancers (both occurring ≤ 46 years; two breast cancers not eligible),
11. ≥1 LFS-related cancer with ≥1 first / second degree relative with ≥1 LFS-related cancer (one case ≤ 46 years, the other case ≤ 56 years; two breast cancers not eligible),
12. Cancer with ≥2 first / second degree relatives with cancer; across the family there is:
i. 1 individual with sarcoma ≤ 45 years, AND
ii. 1 individual with any cancer ≤ 45 years, AND
iii. 1 individual with either a sarcoma OR any cancer occurring ≤ 45 years
Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing
LFS-related cancers comprise: soft tissue sarcomas, osteosarcomas, adrenocortical carcinoma, central nervous system tumours and breast cancers.
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
Commissioning group
Specialised
Overlapping idications
• The relevant cancer clinical indication (M coded) should be used for somatic testing (TP53)
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form