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Research studies

The Northern Ireland Regional Genetics Service is NOT involved in the setting up or running of these research studies.

For some of these studies, it is possible to self-refer (i.e. for patients to get in touch with the research team directly, and independently arrange to join the study).

  • BEOND study (Behavioural and Emotional Outcomes in Neurodevelopmental Disorders)

    The BEOND study is a longitudinal study which seeks to improve our understanding of the factors affecting key outcomes in behaviour, mood, physical health, and mental health, in people with neurodevelopmental disorders and rare genetic syndromes.

  • EUROPAC (The European Registry of familial pancreatic cancer and hereditary pancreatitis)

    EUROPAC is a research study which aims to understand inherited conditions of the pancreas.

    Familial pancreatic cancer

    You may be eligible to take part if:

    • You have a family history of pancreatic cancer (typically 2 or more affected close relatives on the same side of your family)
      You have a mutation in a gene known to increase your risk of pancreatic cancer and have at least one case of pancreatic cancer in the family
      You have been diagnosed with Peutz-Jeghers Syndrome.

     

    Hereditary pancreatitis

    You may be eligible to take part if:

    • You have been diagnosed with hereditary pancreatitis
      You carry a mutation in a gene known to cause hereditary pancreatitis
  • HDGC study - Hereditary diffuse gastric cancer study / Familial gastric cancer study

    The HDGC study aims aims to identify new gastric cancer predisposing genes and to improve the treatment and management of individuals with an inherited predisposition to gastric cancer.

    Inclusion Criteria:

    • Families with two or more cases of gastric cancer at any age, one confirmed (diffuse gastric cancer) DGC.
    • Individuals with DGC before the age of 40.
    • Individuals with a family history of DGC and Lobular breast cancer (LBC), one diagnosed before the age of 50.
    • Individuals from families who have a strong family history of gastric or breast cancer in whom we have been unable to confirm pathology, at the discretion of the study CI or PI.

     

    Study e-mail address: add-tr.fgcs-hdgcservice@nhs.net (You have to be referred to this study by a local geneticist).

  • HumGenDis

    HumGenDis (Molecular Pathology of Human Genetic Disease/ Clinical & Genetic Features of Condition) aims to further the understanding of the genetics of several disorders, including genetic cancer syndromes. Information leaflet and consent form.

    Inclusion Criteria

    • Beckwith-Wiedemann Syndrome
    • Birt-Hogg-Dube
    • CNV Inherited Neoplasia
    • Multiple Pterygium syndrome
    • Phaeochromocytoma/paraganglioma
    • Renal cell carcinoma
    • Russell Silver Syndrome
    • Thyroid cancer
    • Von-Hippel Lindau disease
    • Multiple Primary Tumours (Patients who have had at least two primary tumours below 60 years of age or three primary tumours below 70 years of age and a clinical diagnosis of likely inherited cancer syndrome)

    Exclusion Criteria

    •  Patients with a known underlying genetic cause of tumours (e.g. BRCA1 mutation.
    • Patients with a clinical phenotype that fits a known inherited cancer syndrome will be excluded until they have tested negative for a mutation in the relevant inherited cancer gene(s).
    • Patients considered to have tumours related to exposure to environmental carcinogen.
  • MyMelanoma

    MyMelanoma aims to recruit and maintain contact with a large group of melanoma patients to build the biggest data resource ever collected in the UK that will enable researchers to answer key questions around melanoma.

    If you have had melanoma of the skin, treated in the NHS, then you can consider taking part.

  • PROFILE study (prostate cancer)

    The PROFILE study aims to understand why some individuals with prostates, including those of Black African/Black-Caribbean ancestry, are at greater risk of prostate cancer.

    The PROFILE study is currently recruiting people aged 40-69 years who are at greater risk of prostate cancer, including men of Black African or Black African-Caribbean ancestry, men with genetic mutations known to increase their risk, men with a positive family history of prostate cancer and transgender women with any of these factors.

  • PROTECTOR study (BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, or PALB2 mutation carriers)

    PROTECTOR is a research study for women who are at an increased risk of developing ovarian cancer. Some women may have an increased risk due to:

    • Carrying an alteration in ovarian cancer causing genes such as BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, or PALB2.
    • Having a strong family history of ovarian and breast cancer or ovarian cancer alone.

    PROTECTOR aims to assess the impact on women of a new two-step surgery to prevent ovarian cancer. This involves initially just having your fallopian tubes (or ‘tubes’) removed to prevent ovarian cancer. This is followed by removing your ovaries in a second operation at a later date of your choosing or once you have reached menopause naturally (which on average is 51 years in the UK).

    Inclusion criteria:

    • Women at increased risk of ovarian cancer (OC): BRCA1/BRCA2 mutation carriers; RAD51C/RAD51D/BRIP1 mutation carriers; strong family history of breast cancer and OC or OC alone
    • Premenopausal ≥30years
    • Completed family (for surgical arms)

     

    Exclusion criteria:

    • Previous bilateral-salpingectomy or bilateral-oophorectomy
    • Postmenopausal (amenorrhoea ≥1year (uterus in-situ) / FSH >40)
    • Previous tubal/ ovarian/ peritoneal malignancy
    • <12 months post cancer treatment
    • Pregnancy
    • Clinical suspicion of tubal/OC at baseline
    • Inability to provide informed consent.
  • UKGPCS - The UK Genetic Prostate Cancer Study

    The UKGPS aim is to find genetic changes which are associated with prostate cancer risk.

    Inclusion criteria:

    Men are eligible to take part if they fit into at least one of the following groups:

    • They have been diagnosed with prostate cancer and a first, second or third degree relative where at least one of these men were diagnosed with prostate cancer at 65 years of age or under.
    • They are affected and have 3 or more cases of prostate cancer on one side of their family.
    • They are a prostate cancer patient at the Royal Marsden NHS Foundation Trust.
    • You are taking part in the CyberKnife prostate SBRT studies.

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