Genetics of breast cancer

Genetics of breast cancer

UROLOGICAL CANCER GENOMICS DR DANIEL NELMES CANCER GENOMICS LEAD SW GENOMIC LAB HUB Urological Cancer Genomics Genomics in England and Genomic Lab Hub Genomic Test Directory Tests in urological cancers Proposed initial Future Genomics What is it? 3 Billion base pairs in the human genome 3 The systematic application of genomic technologies has the potential to transform patients lives by:

enabling a quicker diagnosis for patients with a rare disease, rather than years of uncertainty, often referred to in rare disease as the diagnostic odyssey matching people to the most effective medications and interventions, reducing the likelihood of an adverse drug reaction increasing the number of people surviving cancer each year because of more accurate and early diagnosis and more effective use of therapies There are also significant benefits for research and development that can be leveraged on behalf of the NHS, taxpayers and the wider economy. https://www.england.nhs.uk/genomics/nhs-genomic -med-service/ 4 The UK is recognised worldwide as a leader in genomics and the unique structure of the NHS is allowing us to deliver these advances at scale and pace for patient benefit. In March 2017, the NHS England Board set out its strategic approach to build a commissioned National Genomic Medicine Service, building on the NHS contribution to the 100,000 Genomes Project. This comprises five key elements:

A national genomic laboratory service through a network of Genomic Laboratory Hubs A new National Genomic Test Directory to underpin the genomic laboratory network A national Whole Genomic Sequencing provision and supporting informatics infrastructure developed in partnership with Genomics England A clinical genomics medicine services and an evolved Genomic Medicine Centre service A national co-ordinating and oversight function within NHS England (Genomics Unit) 5 Mainstreaming genomic medicine 7 Genomic Laboratory Hubs H H H L H

H * H H LH H H* H H H Population: >5,000,000 Span: >200 miles GMCs: 2 South West Genomic Laboratory Hub region

13 Hospital Sites [H] 2 Central laboratories [L] Bristol Genetics Laboratory Exeter Genetics Laboratory 2 Clinical genetics services Bristol Genetics Service SWP Genetics Service Genomic Test Directory Somatic and Inherited https://www.england.nhs.uk/publication/national-genomic-test-directories/ Genomic Test Directory Cancer Rare and Inherited Diseases (RID) March 2019 GENOMIC TEST DIRECTORY CANCER - ADULT Cancer Gene

Test Indication Renal Cell Carcinoma TFE3 Rearrangement (FISH/RT-PCR) Aid diagnosis/management GENOMIC TEST DIRECTORY CANCER - PAEDIATRIC Cancer Gene Test Indication

Clear Cell Kidney Sarcoma Variou s Various to include WGS Specialist review feel that testing will aid diagnosis/management Congenital Variou Mesoblastic Nephroma s Various to include WGS Specialist review feel that testing will aid diagnosis/management

Cystic Nephroma Variou s Various to include WGS Specialist review feel that testing will aid diagnosis/management TranslocationAssociated Renal Cell Carcinoma Variou s Various to include WGS Specialist review feel that testing will aid

diagnosis/management Renal Tumours Variou s Various to include WGS Specialist review feel that testing will aid diagnosis/management GENOMIC TEST DIRECTORY - RID R220 Wilms Tumour with features suggestive of predisposition R224 Inherited Renal Cancer Renal cancer <40 Type 2 papillary renal caner (<50) Bilateral/multifocal renal cancer (any age) Renal cancer AND first/second degree relative with renal cancer

PROSTATE Somatic in metastatic (castrate resistant) prostate carcinoma 27% alterations in gene involved in MMR (33%) BRCA1/2 ATM CDK12 Trial Phase Agent KEYNOTE 365 IB/II Pembrolizumab with various incl. PARPi

GALAHAD II Single agent niraparib Ongoing MAGNITUDE III First line niraparib with abiraterone/pre d Starting TOPARP-B

II Olaparib CHEK2 PALB2 SUMMARY Genomic Lab Hub Genomic Test Directory Potential Gene Panel Testing for Urological Cancer Thank you Questions?

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