Familial breast cancer

Module created March 2014 - Reviewed February 2018

Managing the risk in Wales

This resource contains information about familial predisposition to breast cancer. It is specifically aimed at Primary Care in Wales where service configuration differs from the other countries of the UK.

The resource has been produced as a result of collaboration between the Wales Deanery (now HEIW) and the Cancer Genetics Service for Wales.

The information is based on NICE guidance Familial breast cancer: classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer (CG164 June 2013).

BReastCAncer 1 and BReastCAncer 2 (BRCA1 and BRCA2) are genes that code for tumour suppressor proteins. Sometimes called “caretaker genes”, the proteins they produce can repair damaged DNA and as such have a role in ensuring the genetic stability of cells. Harmful mutations of the BRCA genes interfere with this protective function, thus rendering the individual at higher risk of developing breast and other cancers.

BRCA1 and BRCA2 are inherited in an autosomal dominant manner.

Other gene mutations can raise the risk of breast cancer, they are however rare and do not appear to raise the risk as much as BRCA mutations.


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