Cancer Genetics Research

Below are some of our ongoing Cancer Genetics research studies. You can find out more about a particular study by clicking on the study title listed below. If you have any questions about the study, you can contact the research team using the details provided.

Breast, Ovarian and Endometrial

Main aims:

  • Provide the first Micro-RNA profile of Lynch syndrome associated endometrial cancer
  • Explore potential biomarkers for Lynch syndrome associated endometrial cancer focusing on proxies for the mechanisms responsible for promoter methylation
  • Explore the mechanisms responsible for tumour genesis in both sporadic and Lynch syndrome associated endometrial cancers.

Inclusion criteria:

  • Diagnosis of EC >18 y/o
  • First degree relative or personal history of Lynch Syndrome
  • Tissue sample available from surgery

Closing date: 30/9/2021

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aim:

Collect information and create a register of families who have inherited faulty cancer genes (including BRCA1 and BRCA2) and find out more about their associated cancer type and risk.

 

Inclusion criteria:

Male or female ≥18:
a) known carriers of a mutation in a breast or ovarian cancer susceptibility gene (affected or unaffected) OR
b) are undergoing, have undergone or may potentially undergo predictive testing for mutations (affected or unaffected)

Gene list: BRCA1/2, PALB2, ATM, CHEK2, BRIP1, RAD51C, RAD51D, BARD1, PTEN, TP53, CDH1

 

Closing date: 31/1/2022

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aim: Case control study of inherited women's cancer.

 

Inclusion criteria:

Women with increased risk of cancer due to any of the following:

  • BRCA1/2 carriers
  • Confirmed Lynch Syndrome mutation
  • No testing but significant family history of ovarian or breast cancer

Closing date: 31/12/2021

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aim: Assess the impact on women of a new two-step surgery to prevent ovarian cancer.

 

Inclusion criteria:

  • Women at high risk of ovarian cancer because they carry a mutation in a BRCA1/BRCA2/RAD51C/RAD51D/BRIP1 gene OR they have a strong family history putting them at increased risk
  • Premenopausal ≥30years
  • Completed family (for early surgical arms only)

 

Closing date: 18/12/2021

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Colorectal

Main aims:

  • Identify additional susceptibility genes for CRC and cancers genetically related to CRC
  • Determining the extent of genetic risk, building risk models that incorporate multiple risk factors, and performing functional studies to work out how CRCs develop and how inherited risk factors act.

Inclusion criteria:

Index patient - 
a) 6-50 years old diagnosed with bowel/Colon cancer, with or without a FHx OR
b) Any patient (any age) with bowel/colon cancer and or polyps, with a strong FHx of bowel ca or related Lynch cancers OR
c) Patients with 10 or more polyps at any age (or less if meets WHO criteria for serrated polyposis syndrome).

Note: Patient cannot have a pathogenic variant if genetic test has been done.

 

Closing date: 30/4/2027

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aim:

Discover novel genetic mechanisms underlying polyposis of the bowel and the development of tumours in this group of disorders.

 

Inclusion criteria:

Affected with polyposis where no clearly pathogenic mutation identified in known polyposis genes during routine diagnostic testing.

 

Closing date: 31/8/2021

 

Link to further information

 

Research team details:

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aims:

  • Identify novel recessive mutations and new dominant mutations in young affected individuals who have developed colorectal cancer and to elucidate the complex inherited component of colorectal cancer risk
  • Ensure optimal risk category is assigned to patients with such novel mutations and to ensure surveillance for metachronous cancers and instigate cascade testing.

Inclusion criteria:

  • Diagnosed with colorectal cancer <40 y/o
  • No known genetic predisposition to the development of colorectal cancer
  • No strong molecular family history of cancer consistent with known dominant disorders
  • Trio required (parents with no diagnosis of colorectal cancer or similar eg endometrial).

Closing date: 30/09/2021 or 04/06/2021

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Prostate

Main aims:

  • To investigate whether PCa patients who carry a rare germline mutation have shorter CSS compared to non-carriers
  • To investigate whether PCa patients with rare germline mutations have a shorter biochemical progression free survival (bPFS) and metastasis free survival (MFS) after radical treatment for PCa than non-carriers. The study will also analyse progression free survival (PFS) and CSS from metastasis (CSS_M1)
  • Perform genetic profiling to investigate whether common allele profiles or specific common alleles also have an association with prognosis and treatment outcome.

Inclusion criteria:

Men diagnosed with prostate cancer - 

  • Known carriers of a germline mutation in a gene associated with prostate cancer risk OR 
  • known not to carry a mutation in a gene associated with prostate cancer risk

Neb diagnosed with prostate cancer through IMPACT study are NOT ELIGIBLE.

 

Closing date: 31/12/2020

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aim:

Identification of men with a genetic predisposition to prostate cancer: Targeted screening in men at higher genetic risk and control.

 

Inclusion criteria:

40-69 y/o male with no history of prostate cancer -
a) known carrier of Lynch syndrome mutation thought to confer a higher risk of Pca OR
b) tested negative for known pathogenic mutation as above

 

FOLLOW-UP ONLY, RECRUITMENT COMPLETED

 

Closing date: 1/3/2020

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Main aim:

Find genetic changes which are associated with prostate cancer risk. It may be possible in the future to use this knowledge to -

  • Screen other family members to see if they are also at higher risk of developing prostate cancer
  • Develop new prostate cancer treatments

Inclusion criteria:

Male diagnosed with prostate cancer before 60 years old AND
a) Prostate cancer in first, second or third-degree related pairs where one is ≤ 65 yo at diagnosis OR
b) Three or more cases of prostate cancer at any age on one side of the family

 

Closing date: 31/12/2022

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Mixed

Main aim:

Evaluating the pathogenicity of novel germline variants in the RET gene, associated with phaeochromocytoma, C-cell hyperplasia, features of multiple endocrine neoplasia type 2.

 

Inclusion criteria:

  • Aged 1-90 y/o
  • Known NHS patients or their guardians if <16, seen in the endocrine or genetic service
  • Patients who are willing to gift 10-20ml of fresh blood being taken or a saliva sample
  • Multiple endocrine neoplasia due to a known RET disease fault or patients with novel RET variants OR a control without evidence of a RET gene fault who has endocrine disease

Closing date: 31/8/2021

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Main aim:

There are many different arms to this study, each one looking at separate conditions.

We need to investigate the genes/genetic factors of many individuals/families with exactly the same condition. We would like to better understand the gene(s)/genetic factors that may be the cause of the condition in you/your family.

 

Inclusion criteria:

  • Multiple primary tumours
  • Inherited Renal Cell Carcinoma
  • Inherited Phaeochromocytoma and Paraganglioma
  • Beckwith-Wiedmann Syndrome (suspected, with negative or positive result)
  • Silver-Russell Syndrome (suspected, with or without positive test)
  • Gastrointestinal Stromal tumours

Closing date: 31/3/2022

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aims:

  • Is it possible to identify new genetic causes in individuals and families at risk of or diagnosed with suspected hereditary cancer?
  • Can these genes be rapidly developed into new genetic tests in the clinic?

Inclusion criteria:

  • Cancer or benign tumour >50 y/o
  • Cancer or benign tumour at any age with unusual features
  • 2 or more cancers or benign tumours at any age in the same individual
  • Cancer or benign tumour at any age in an individual with strong/unusual family history and/or which may not be explained by known mutation in the family
  • Relative of a deceased family members fulfilling any of the above

Closing date: 31/3/2022

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

 

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

Main aim:

Investigate the mechanisms that allow the interaction between epigenetic marks and metabolites in cancer from tumour biopsies. This will help us to better understand the role of epigenetics during cancer formation and growth and will provide potential target for new therapies.

 

Inclusion criteria:

  • Patients scheduled to undergo a clinical procedure for medical reasons pertinent to their care
  • Patients with excess archived tissue material collected for diagnostic or research purposes
  • 18+ y/o or deceased donors from participating paediatric hospitals in London Region after consent from next of kin or guardian
  • Willingness to have tissue or biologic fluid specimens used for research as outlined in this protocol
  • Deceased organ donors with appropriate research consent whose organ, or part of it, is not transplanted to a recipient for medical reasons (excess tissue)

Closing date: 31/10/2021

 

Link to further information

 

Research team details:

Guy's and St Thomas' Clinical Genetics Research Team
GuysGeneticsResearch@gstt.nhs.uk
0207 188 2603

Main aim:

Flagship study exploring needs, technical aspects and quality assurance of RNA analysis as a means to interpret sequence variants of unknown significance.

 

Inclusion criteria:

Participants will have already been investigated at their request by the molecular genetics diagnostic laboratory. They will be included in the study if a sequence variation of unknown significance is found, and if on studying the sequence a splicing abnormality is suspected.

Particular interest are patients where mutation analysis alone has not given a conclusive result and where further analysis would help clarify the patient’s disease status.

 

Closing date: 30/11/2022

 

Research team details:

St George’s Clinical Genetics Research Team
stgh-tr.geneticsresearch@nhs.net
0208 725 0571

South East Genomics

Welcome to our new home

We have recently changed our name from the NHS London South Genomic Laboratory Hub to the NHS South East Genomic Laboratory HubWe think it better reflects the region we cover!

Hello! Welcome to the South East GLH website. The site is not fully supported in older versions of Internet Explorer. To get the best experience, we recommend that you use Google Chrome or Firefox to browse the site.

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
 
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
 
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
 
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.