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
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
Rare Disese WGS Clinician pack
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