(Vienna, 26th June 2012) Procedural guidelines for identifying and caring for individuals with hereditary risk due to gene mutations - implementation at 57 counselling centres.
Free, comprehensive and quality-assured for the 25,000 or so affected individuals in Austria: radiologists and gynaecologists have, with the support of the Bund, Federal States and health insurance organisation, created a system for identifying and supporting women who, due to inherited mutations in the breast cancer genes BRCA1 and BRCA2, are at increased risk of breast cancer and/or ovarian cancer. “Austria is therefore leading the international community in this," said radiologist Thomas Helbich (MedUni Vienna/VGH) on Tuesday at a press conference in Vienna.
Helbich, President of the Austrian Society of Senology (breast health): “Around ten per cent of breast cancer cases occur where there is a family history of the condition. (…) In Austria, around 25,000 women fall into this risk group.”
Mutations in the two breast cancer genes BRCA1 and BRCA2 are associated with an exceptionally high risk of developing the disease. Gynaecologist Christian Singer (MedUni Vienna / VGH / Senology): “According to international studies, women with these mutations have a 50 per cent risk of developing breast cancer by the age of 50; the risk for non-carriers of these mutations is two per cent.” By the age of 70, these figures increase to a risk of developing the condition of 87 per cent versus eight per cent. For ovarian cancer, the risk is 44 per cent (mutation carriers) by the age of 70 versus less than one per cent for non-carriers.
It is precisely these women that Austria is now trying to reach out to by observing the newly-created guidelines and via the 57 centres that work according to the same criteria in hospitals across Austria. The procedure is as follows:
• Every general practitioner and every gynaecologist should ask the patient (men can develop breast cancer too) whether any relatives have or have had breast and/or ovarian cancer. If either condition has occurred twice or more, the patient should be referred to one of the centres.
• At the counselling centre, a medical history and family tree is drawn up first of all. If this yields a “suspicious” result, a blood sample is offered to test for BRCA1 and BRCA2 mutations.
• If the genetic test is requested, it is processed in Vienna (at the MedUni Vienna / VGH) and the patient is asked to return one to two months later.
• If the individual wishes to know the result of the genetic testing, he or she is first given extensive information that is not biased towards either possible result: information is given about intensive screening or the option of the prophylactic removal of the breasts (including reconstruction) and / or ovaries.
If the individual opts to wait and continue screening, a magnetic resonance imaging (MRI) scan of the breasts is carried out once a year from the age of 25 and mammography is carried out from the age of 35. For ovarian cancer, an annual ultrasound examination is recommended from the age of 35, as well as blood tests for tumour markers. The MRI scan detects 50 per cent more tumours than mammography. For ovarian cancer, screening examinations are unfortunately not as definitive as for breast cancer.
Operations reduce the risk of breast cancer tremendously in women with BRCA mutations. Says Helbich: “The prophylactic removal of the breasts and ovaries cuts the risk of breast cancer by 95 per cent and of ovarian cancer by 80 per cent.” Effectively, it is therefore possible to achieve an approximation to the much lower risk enjoyed by women without this familial burden.
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Comprehensive support system for women in families with breast cancer
Procedural guidelines for identifying and caring for individuals with hereditary risk due to gene mutations - implementation at 57 counselling centres.