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Breast cancer genes

A fault in specific genes can increase your risk of developing breast cancer. Women at risk of having a faulty gene are offered tests and screening. Find out who could be at risk, and what to do if you think you may have a faulty gene in the family. Genes
We inherit genes from our parents. Genes determine many body characteristics, including hair and eye colour. We can also inherit conditions and diseases, or a higher risk of them, including breast cancer.

Having a faulty high-risk gene linked to breast cancer is not common, says professor Gareth Evans, consultant medical geneticist at St Mary s Hospital in Manchester. !Mutations in the high-risk genes affect one in "## people or less,$ he says. Genes called %&'(), %&'(*, +,"- or ,+E. are linked /ith breast cancer. Everyone has these genes. 0f there s a fault or mutation in one of them, the risk of breast cancer is high. +hese faulty genes also increase the risk of ovarian cancer. ( blood test can identify /hether you have a fault in one of these high-risk genes.

What is the normal risk of breast cancer?


0n the 12, a /oman3s lifetime risk of developing breast cancer is )#4. 5ut of every )## /omen, )# /ill develop breast cancer by the time they are 6# years old. 0t can affect anyone. 7ou can get it even if you don3t have a faulty gene. 0f more than one person in a family has breast cancer, this doesn3t mean the faulty genes are present. 0t could be chance, as breast cancer is common.

What is the risk if you have a faulty gene?


0f you have a faulty gene, it doesn3t mean you3ll definitely develop breast cancer, but you are at a higher risk. Having a fault in one of the breast cancer genes raises the risk of developing breast cancer to bet/een "#4 and 6"4. 5ut of every )## /omen /ith a faulty gene, bet/een "# and 6" of them /ill develop breast cancer in their lifetime.

Who is tested for faulty genes?


0f a /oman is diagnosed /ith breast cancer and has a strong family history of breast and8or ovarian cancer, she /ill usually be offered a blood test to see /hether she has a faulty gene. 0f the test is positive, this means she has a higher risk of developing cancer in her other breast and of developing ovarian cancer.

Women /ho don t have breast cancer can be offered testing if they are at risk of having a faulty gene. +his can include relatives of /omen /ith a faulty gene, and /omen /ith a strong family history of breast cancer /here a living family member /ith breast or ovarian cancer is available for testing. !Women /ho have a mother or sister /ho has tested positive can opt for a simple genetic test to find out /hether they ve got the faulty gene,$ says Evans. 0f you don t have a relative /ho has tested positive for a faulty gene, family history needs to be strong to 9ustify testing. :;ooking at family history means looking at the combinations of breast and ovarian cancer, and young-onset <younger than "#= breast cancer in the family,: says Evans. :>or e?ample, a family history of three /omen in their thirties or four /omen in their forties having cancer /ould easily @ualify someone for genetic testing.$

What if a woman without cancer has a faulty gene?


%ecause a /oman /ith a faulty gene has a high lifetime risk of breast and ovarian cancer, she has options. Aepending on her age and estimated risk, she ll be offered mammograms or M&0 Bmagnetic resonance imagingC scans, or both. She can still follo/ general health advice, too. !Women can reduce their risk by not putting on /eight, by eating a good diet and by taking regular e?ercise,$ says Evans. !+he problem is that they probably can t reduce their risk to belo/ "#4. +hat s /hy a high proportion of those /omen opt for risk-reducing surgery.$ +his involves surgical removal of the breasts BmastectomyC and sometimes removal of the ovaries BoophorectomyC, to reduce the risk of cancer developing. +hese are ma9or operations, and the /oman and her clinician need to discuss the risks and implications before any decisions are taken. !0f a /oman has a double mastectomy <removal of both breasts=, her risk of developing breast cancer is reduced by D# to D"4,$ says Evans. Women /ho have had risk-reduction surgery /ill be monitored to check that cancer isn3t developing in any leftover breast tissue that can t be removed, such as on the chest /all.

Where can go for help if !m worried about my risk?


0f t/o or three /omen in your family have had breast cancer and you re /orried about your risk, see your G,. 0f your G, thinks you have an increased risk, you can be referred to a local breast clinic. 0f there is already a positive gene test in the family, they can refer you to the genetic clinic.

Breast cancer e"pert


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