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The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation
  1. E Sermijn1,2,
  2. G Goelen1,3,
  3. E Teugels1,4,
  4. L Kaufman5,
  5. M Bonduelle1,6,
  6. B Neyns1,2,4,
  7. B Poppe7,
  8. A De Paepe7,
  9. J De Grève1,2,3,4
  1. 1Family Cancer Clinic, AZ-VUB, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090 Jette, Belgium
  2. 2Department of Medical Oncology, AZ-VUB, Vrije Universiteit Brussel, Belgium
  3. 3Department of Cancer Prevention, AZ-VUB, Vrije Universiteit Brussel, Belgium
  4. 4Department of Molecular Oncology, AZ-VUB, Vrije Universiteit Brussel, Belgium
  5. 5Department of Medical Statistics, AZ-VUB, Vrije Universiteit Brussel, Belgium
  6. 6Department of Medical Genetics, AZ-VUB, Vrije Universiteit Brussel, Belgium
  7. 7Centre for Medical Genetics, University Hospital of Ghent, Belgium
  1. Correspondence to:
 Prof Dr J De Grève
 Department of Medical Oncology, Oncologisch Centrum, AZ-VUB, Laarbeeklaan 101 1090 Jette, Belgium;

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Since the identification of the BRCA1 (17q21)1 and BRCA2 (13q12–13)2,3 genes as the major predisposition genes for hereditary breast and ovarian cancer (HBOC),4 genetic counselling and predictive testing has progressively been introduced and applied throughout the world. In many centres, the initial approach towards these families has been very cautious, mainly because of lack of prospective data on the effects of preventive measures to be proposed for mutation carriers and the uncertainty of the psychological impact of this information within these families. In the Familial Cancer Clinic of the Vrije Universiteit Brussel (VUB), Belgium, a multidisciplinary team adopted a protocol of ‘non-directive’ counselling based on the international guidelines used for Huntington families.5 Non-directiveness is a form of counselling that includes the presentation of several options without recommending a specific choice, but in the context of this study, non-directiveness is rather focused on the way the counselling team behaves towards other family members. According to this aspect of the protocol, the proband is the major and initially unique interlocutor between the family and the familial cancer team as represented by the counsellor. The proband helps in establishing the family pedigree and is informed about the various aspects of HBOC and predictive genetic testing. After a mutation is found, the relevant information and availability of predictive testing is communicated to the remainder of the family, initially through the proband and subsequently through other family members who come forward for testing. In contrast to persons affected by Huntington’s disease, several options are available to mutation carriers, which can alter their outcome. Recently, prospective data on the effectiveness of some preventive options have emerged, including the short term protection provided by preventive mastectomy compared with preventive screening.6 The availability of effective screening and prophylactic treatment makes “the right …

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