Case­-control study of individuals with increased risk of inherited women's cancer

Study ID: 30876
Short Title: FORECEE: Case control study of inherited women's cancer
Trust Name: IC
Recruitment Site: Highcliffe Medical Centre,Salisbury Medical Practice,Swanage Medical Practice,The Adam Practice,Wareham Surgery
Disease Area: Breast cancer Gynaecological cancers
Phase: N/A
Expected End Date: 31/12/2023
Postcode: NHS Bath and North East Somerset
Swindon and Wiltshire CCG (Wessex)
NHS Dorset CCG
NHS Wiltshire CCG (Wessex)
NIHR CRN: Wessex
Contact Name: Amanda Pattie
Contact Email: studysupport1and3.crnwessex@nihr.ac.uk
Active: Yes

Inclusion criteria, exclusion criteria and study summary

All women attending the Familial Cancer Clinic in gynaecological oncology at UCLH, UCL Partner Clinics, Barts and the London Hospital Clinics, as well as women at risk of cancer due to documented gene mutations, who we aim to recruit from the community. Included in the study would be BRCA1/2 carriers, women with confirmed Lynch Syndrome mutation (LH1, MSH2, MSH6 and/or PMS2), as well as women who have not undergone genetic testing but have a significant family history of ovarian or breast cancer. Control subjects would be women who have tested negative for the above mutations.

Women who have undergone previous hysterectomy or who have undergone recent cancer treatment (within 2 years of recruitment) would not be suitable for the study.

Every day, 20 women are diagnosed with ovarian cancer in the UK. Of those, less than 7 will survive beyond 5 years. Similar figures exist for triple negative breast cancers, which in fact share similar expression and copy­-number variation profiles (The Cancer Genome Atlas Research Network, Nature, 2013). About 5-­10% of all breast and ovarian cancers, in particular those that are difficult to treat (high grade serous ovarian and triple-­negative breast cancers and serous endometrial cancer), arise in women with a germline mutation in the BRCA1/2 gene. Only about half of these women would be identified due to their family history. We aim to recruit a cohort of volunteers with confirmed BRCA/Lynch Syndrome mutation carrier status (with confirmed non-carriers as controls) in order to contribute substantially to the elucidation the process of cancer development in women with inherited risk of ovarian and breast cancer in order to identify minimally invasive biological markers that would aid the diagnosis of individuals at risk of breast, endometrial and ovarian cancer; and to identify molecular targets to prevent the development of inherited women's cancer.

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