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
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