Identification of novel breast cancer susceptibility genes
Research type
Research Study
Full title
Identification of novel breast cancer susceptibility genes in a Northern Ireland population
IRAS ID
162984
Contact name
Kienan Savage
Contact email
Duration of Study in the UK
1 years, 0 months, 31 days
Research summary
In the UK 1 in 8 women will be diagnosed with breast cancer in their lifetime. Approximately 5-10% of breast cancers are hereditary and caused by a genetic mutation, resulting in multiple family members affected by the disease. The mutations responsible for 35% of hereditary breast cancers have been identified in specific genes, which include BRCA1 and BRCA2 along with several others. However the genetic cause of the remaining 65% of hereditary breast cancers is unknown. Many of these breast cancer susceptibility genes also increase the risk of developing ovarian cancer. Genetic testing of families with a history of breast cancer can identify the mutation responsible for the disease. Those who are carriers for this genetic marker are therefore at greater risk of developing breast and/or ovarian cancer. Carriers are offered more intensive screening to enable early diagnosis or risk reducing surgery to decrease their risk of developing the disease. This study aims to identify mutations in new susceptibility genes that increase the risk of breast and/or ovarian cancer in individuals where the cause of their hereditary cancer is unknown. The study will focus on 510 patients with hereditary breast cancer in Northern Ireland who have tested negative for mutations in BRCA1 and BRCA2 and therefore the genetic component of their cancer has yet to be identified. DNA that has been extracted from a blood sample from these patients will be sequenced to look for changes in the DNA of a particular panel of genes. The panel of genes has been compiled from genes with mutations known to cause breast cancer and genes that are candidates for breast cancer causation. This will enable the study to identify the genetic cause of breast cancer in multiple patients.
REC name
HSC REC B
REC reference
15/NI/0061
Date of REC Opinion
23 Apr 2015
REC opinion
Favourable Opinion