C50 Malignant neoplasm of breast

One study on Malignant neoplasm of breast is accessible to registered UDBN website users.

Non-BRCA1/2 sister pairs study 2000
UDBN partner:
Prof Ellen Solomon (King's College, London)

Breast cancer is the leading cause of cancer deaths among women. The lifetime risk of the disease in the UK is roughly 1 in 10, with an annual mortality of 12,000. The aetiology of breast cancer is believed to be a complex interaction of environmental, hormonal and genetic factors, with the highest increased risk factor for breast cancer being associated with a positive family history, with an increased familial risk of 3 - 4. Very high risk families with multiple cases of early onset breast cancer or multiple cases of breast and ovarian cancer are believed to contribute a minority of about 5% of all breast cancer cases. Mutations in two genes, BRCA1 and BRCA2, have been shown to account for about 60% of such families. Small familial clusters of breast cancer cases are far more common. Studies on a large population-based series of patients have shown that mutations in BRCA1 and BRCA2 contribute only 16% of the total familial risk of breast cancer. This proposal is for the collection of 500 affected sister pairs with breast cancer diagnosed under the age of 60. Sister pairs will be selected from families with no more than one additional case of breast cancer in first or second degree relatives, and no male breast cancer, ovarian cancer, or multiple cases of any other cancers. The collection will be used for genome-wide linkage studies to identify genes contributing to susceptibility to breast cancer - but with alleles of lower penetrance and higher frequency than BRCA1 and BRCA2. In addition, the collection will provide a powerful resource for other genetic studies to identify and follow-up putative candidate genes.

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