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Options for women with inherited breast cancer


Angelina Jolie's brave decision to go public with the news that she has had a double mastectomy to reduce her chances of developing breast cancer will encourage more women to think about their own risk of developing the cancer.
But who is at risk and what are the treatment options available for women on the NHS ( National Health Service ) ?
Jolie, aged 37, was told by doctors that she had an 87% chance of developing breast cancer because she carries a faulty gene known as BRCA1. Her mother had fought cancer for almost a decade and died at the age of 56.

Cancer Research UK estimates that women who carry the BRAC1 gene have between a 60-90% chance of developing breast cancer.

NICE has published guidance on familial breast cancer ( breast cancer in the family ) in 2006 to help the NHS identify women at a higher risk of developing the cancer.
If a faulty gene, such as BRCA1, BRCA2 or TP53, has been identified in the family then the woman should be referred directly to tertiary care, such as specialist cancer care centres.
If there is no faulty gene identified in the family, then a general practitioner ( GP ) should check to see if first or second degree maternal or paternal family history shows any breast cancer.
First-degree relatives include mother, father, daughter, son, sister, brother. Second-degree relatives include grandparent, grandchild, aunt, uncle, niece and nephew; half sister and half brother.
Paternal history includes two or more relatives diagnosed with breast cancer on father's side of family. A very strong paternal history will include four or more relatives diagnosed with breast cancer at younger than 60 years on father's side of family.

Women should be referred from primary to secondary care if they are at more than raised risk.

A) Female breast cancers only: one 1st degree relative and one 2nd degree relative diagnosed before average age 50; two 1st degree relatives diagnosed before average age 50; three or more 1st or 2nd degree relatives diagnosed at any age.

B) Male breast cancer: one 1st degree male relative diagnosed at any age;

C) Bilateral breast cancer: one 1st degree relative where 1st primary diagnosed before age 50. For bilateral breast cancer, each breast has the same count value as one relative;

D) Breast and ovarian cancer: one 1st or 2nd degree relative with ovarian cancer at any age and one 1st or 2nd degree relative with breast cancer at any age ( one should be a 1st degree relative ).

NICE is currently in the process of updating the guidance on familial breast cancer and is expected to publish an update in June 2013. The draft update contains provisional recommendations on the use of preventative treatments which advises chemoprevention ( using drugs to reduce the risk of breast cancer in women at high risk ) for women with no personal history of breast cancer.
One of the recommendations is for Tamoxifen or Raloxifene to be offered for 5 years to post-menopausal women at high-risk of breast cancer unless they have a past history of thromboembolic disease or endometrial cancer.

Jolie had a procedure called nipple delay which rules out any disease in the breast ducts behind the nipple, drawing in extra blood flow to the area. Following this, she opted to have breast reconstruction using implants.

Existing NICE guidance makes a number of recommendations for healthcare professionals and women to consider, as well as guidance on breast reconstruction using lipomodelling after breast cancer treatment.
Lipomodelling uses the patient's own fat cells to replace volume after breast reconstruction, or to fill defects in the breast following breast-conserving surgery. It can be used on its own or as an adjunct to other reconstruction techniques. The procedure aims to restore breast volume and contour without the morbidity of other reconstruction techniques.
NICE says that current evidence on the efficacy of breast reconstruction using lipomodelling after breast cancer treatment is adequate and the evidence raises no major safety concerns. ( Xagena )

Source: NICE, 2013

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