Familial transmission of information dealing with BRCA1/2 mutations in hereditary breast and ovarian cancer.
Authors: T Leroy, V Christophe, C Adenis, L Vanlemmens, P Vennin
Journal: Cancer Research (2009)

Abstract Abstract #1104 Background: A mutation of the BRCA1/2 genes is implicated in 5 to 10% of the breast and ovarian cancer cases. In France, when such a genetic mutation is discovered in a family, the consulting persons are expected to transmit themselves this medical information to their relatives. Indeed, for legal reasons, physicians are not allowed to contact them personally. An important gap has been observed however between the number of persons who are potentially concerned by this genetic information and the number of persons actually consulting. We then wondered about (1) the actual transmission of genetic information to relatives, (2) possible reasons for the non-transmission of this information, (3) the rate of concerned consulting relatives and (4) presumed reasons for not consulting when informed.&amp;#x2028; Methods: This sample includes 31 target consultants (index cases) of mutated families who received the result of the genetic test between January 2003 and June 2005. Data were gathered in two successive steps: some were first referring to consultants' medical files, then we called these target consultants asking them standardized questions about their relatives. Final analyses concern 264 relatives complying with our selection criteria.&amp;#x2028; Results: According to information gathered thanks to medical files and calls to target consultants, most of the relatives (73.1 %) are informed that a deleterious mutation is present in the family. Women are more often informed (80.7 %) than men (63.2 %). The non-informational motives are on the one hand mainly social and emotional distance and, on the other hand, the stressful content of this information. It would be disclosed through family by the women who are alive and carry the mutation. Moreover, a minority of the presumed informed women (39.7 %) have attended the oncogenetic consultation. This rate represents 32 % of all concerned women. Almost no man has consulted. We can just assume the motives for short-term absence of consultation. They seem to be especially linked to relatives' disinterest towards genetic information. The studied characteristics just allow us to point out the closeness with a mutated relative as a determinant factor of consultation.&amp;#x2028; Discussion: This study brings two main results linked to relatives' information and consultation when a breast and ovarian cancer genetic risk has been identified in the family. On the first hand, it confirms that familial transmission of the medical information is pretty good. On the other hand, despite the good communication among family members, the rate of consultation remains low in informed women. According to these findings, efforts have to be made to give better explanations about the goals of oncogenetic consultation as well as enhancing the quality of information transmission in mutated families. These improvements could raise consultation rates and then increase the efficiency of screening and preventive measures. Citation Information: Cancer Res 2009;69(2 Suppl):Abstract nr 1104.