Clinical Indication ID & Name
CDH1-related cancer syndrome
Test Group
Inherited cancer
Specialties
Test code
R215.1
Test name
N/A
Target genes
CDH1
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
1. Living affected individual (proband) where the individual +/- family history meets one of the criteria.
The proband has:
a. Diffuse gastric cancer ( <50 years).
b. gastric in situ signet ring cells or pagetoid spread of signet ring cells under 50 years
c. diffuse gastric cancer at any age with a personal history or FDR with cleft lip or cleft palate.
d. double primary diffuse gastric cancer and lobular breast cancer (both <70 years).
e. diffuse gastric cancer and ≥ 1 FDR/SDR with diffuse gastric cancer at any age.
f. diffuse gastric cancer at any age and ≥1 FDR/SDR with lobular breast cancer <70 years.
g. Lobular breast cancer and ≥FDR/SDR has diffuse gastric cancer (≥ 1 case occurred < 70 years).
h. 2 cases of lobular breast cancer<50 years e.g. bilateral or multiple ipsilateral tumours
2. 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
NOTE: At least one cancer should be histologically confirmed
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist
MDT with a cancer geneticist present
Test code
R215.2
Test name
N/A
Target genes
CDH1
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Living affected individual (proband) where the individual +/- family history meets one of the criteria.
The proband has:
a. Diffuse gastric cancer ( <50 years).
b. gastric in situ signet ring cells or pagetoid spread of signet ring cells under 50 years
c. diffuse gastric cancer at any age with a personal history or FDR with cleft lip or cleft palate.
d. double primary diffuse gastric cancer and lobular breast cancer (both <70 years).
e. diffuse gastric cancer and ≥ 1 FDR/SDR with diffuse gastric cancer at any age.
f. diffuse gastric cancer at any age and ≥1 FDR/SDR with lobular breast cancer <70 years.
g. Lobular breast cancer and ≥FDR/SDR has diffuse gastric cancer (≥ 1 case occurred < 70 years).
h. 2 cases of lobular breast cancer<50 years e.g. bilateral or multiple ipsilateral tumours
2. 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
NOTE: At least one cancer should be histologically 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
n/a
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