Biomarkers and Lynch Syndrome in Patients with Oesophago-gastric Cancer Clinical Guidance Document
The aim of this document is to provide clinical and pathology staff with guidance on which biomarkers may be required in patients with oesophago-gastric (OG) cancer, how to order biomarker testing, and scenarios for when the patient should be referred to Clinical Genetics for suspected Lynch syndrome. This document applies to all Welsh patients.
NTRK-Gene Fusion Testing Clinical Guidance Document
This guidance is relevant to all staff involved with the management of adult and paediatric patients (with a diagnosis of any solid tumour) who are eligible to have their tumour tested for this genetic variant. For those patients whose tumour is subsequently identified to have a NTRK gene fusion and are eligible to receive tropomyosin receptor kinase (TRK)- inhibitors, this guideline summarises the prescribing information and recommended baseline investigations and on-treatment monitoring requirements for these therapies.
FGFR2 Gene Fusion Testing Clinical Guidance Document
This guidance is relevant to all staff involved with the management of patients with locally advanced or metastatic cholangiocarcinoma. These patients may be eligible to receive pemigatinib, an oral tyrosine kinase inhibitor, if their tumour is found to have a FGFR2 gene fusion. This guideline summarises the prescribing information and recommended baseline investigations and on-treatment monitoring requirements for this drug.
PIK3CA-Mutated Breast Cancer Clinical Guidance Document
The guidance is relevant to all staff involved with the management of adults who are eligible to have their tumour tested for this genetic biomarker. For those patients whose tumour is subsequently identified to have a PIK3CA (phosphatidylinositol 3-kinase catalytic subunit alpha) variant and are eligible to receive alpelisib, this guideline summarises the prescribing information and recommended baseline investigations and on-treatment monitoring requirements for this therapy.
BRCA Testing in Breast Cancer
The guidance is relevant to all staff involved with the management of patients with early breast cancer. For those patients where a germline BRCA1 and BRCA2 alteration is subsequently identified and who are eligible to receive olaparib, this guideline summarises the prescribing information and recommended baseline investigations and on-treatment monitoring requirements.
Accelerated Referral Form to Clinical Genetics
Breast Cancer Genomic Testing - Patient Information
Consent form - R208 or R444.1 Mainstream Breast Cancer Genomic Testing
R208 R444.1 Mainstreaming Pathway
BRCA Gene Testing for Hormone-Relapsed Metastatic Prostate Cancer (to access Olaparib)
BRCA testing for Olaparib Use in Prostate Cancer Clinical Guidance Document
This guidance is relevant to all staff involved with the management of hormone-relapsed metastatic prostate cancer. For those patients where a somatic or germline BRCA1 or BRCA2 variant is subsequently identified and who are eligible to receive olaparib, this guideline summarises the prescribing information and recommended baseline investigations and on-treatment monitoring requirements.
Accelerated Referral Form to Clinical Genetics