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. HER2 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
13. Proband with personal history of 2 or more POT1-associated cancers (cutaneous melanoma, chronic
lymphocytic leukaemia, angiosarcoma, glioma but excluding two cases of cutaneous melanoma) OR
Proband with POT1 associated cancer and ≥1 FDR/SDR affected with a POT1 associated cancer (excluding
two cases of cutaneous melanoma)
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available,
AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
LFS-related cancers comprise: soft tissue sarcomas, osteosarcomas, adrenocortical carcinoma, central
nervous system tumours and breast cancers including malignant phylloides tumours
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
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. HER2 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
13. Proband with personal history of 2 or more POT1-associated cancers (cutaneous melanoma, chronic
lymphocytic leukaemia, angiosarcoma, glioma but excluding two cases of cutaneous melanoma) OR
Proband with POT1 associated cancer and ≥1 FDR/SDR affected with a POT1 associated cancer (excluding
two cases of cutaneous melanoma)
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available,
AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
LFS-related cancers comprise: soft tissue sarcomas, osteosarcomas, adrenocortical carcinoma, central
nervous system tumours and breast cancers including malignant phylloides tumours
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
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
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