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Communicating BRCA1 and BRCA2 Genetic Test Results

Institute of Cell and Molecular Pathology, Hannover Medical School, Germany

Birgitta Teige

Women’s Health Research Unit, Institute of Human Genetics, University of Münster, Germany

Denise Horn

Institute of Human Genetics, Charité, Humboldt University, Berlin, Germany

Kristin Bosse

Institute of Human Genetics, University of Bonn, Bonn, Germany

Friedmar Kreuz

Department of Clinical Genetics, University Medical Center Carl Gustav Carus, Dresden, Germany

Timm Goecke

Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany

Dieter Schäfer

Institute of Human Genetics, University of Frankfurt, Frankfurt, Germany

Theda Voigtländer

Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany

Barbara Fischer

Institute of Human Genetics, University Hospital Schleswig-Holstein Campus, Kiel, Germany

Ursula Froster

Institute of Human Genetics, University of Leipzig, Leipzig, Germany

Brigitte Welling

Institute of Human Genetics, University of Münster, Münster, Germany

Irmgard Debatin

Department of Human Genetics, University of Ulm, Ulm, Germany

Bernard H. F. Weber, Ines Schönbuchner

Institute of Human Genetics, University of Würzburg, Würzburg, Germany

Irmgard Nippert

Women's Health Research Unit, Institute of Human Genetics, University of Münster, Germany

Brigitte Schlegelberger

Institute of Cell and Molecular Pathology, Hannover Medical School, Germany

To the Editor:

We read the article "Sharing BRCA1/2 Test Results With First-Degree Relatives: Factors Predicting Who Women Tell" by Patenaude et al¹ recently published in the Journal of Clinical Oncology with great interest. The authors present data from 273 women self-responding to a questionnaire by mail 4 months postdisclosure. We have performed a similar survey of 332 women within the German Cancer Aid Consortium study on hereditary breast and ovarian cancer who underwent BRCA1/2 genetic testing and had obtained their test results at least 6 months previously (unpublished data). Data were collected by structured telephone interviews performed by a genetic counselor (a trained doctor in Germany) who had initially counseled the woman. The design of the German Cancer Aid Consortium study was previously described by Nippert et al.² The individual three-generation family tree drawn in the pretest counseling session was used during the interview to determine the number and relationship of living relatives and to check individually who had been informed. Statistical analysis using Pearson's ² test for comparison of data was performed. Descriptive statistics and univariate comparisons were carried out using the R software package (version 2.0.0, www.r-project.org/). The level of significance is a type-1 error lower than .05.

The sample characteristics of the study by Patenaude et al¹ and our study are comparable. For example, 60% of participants from the study by Patenaude et al and 65% of participants from our study were affected with breast cancer. Twenty-five percent of participants from the Patenaude et al study and 35% of our collective carried a pathogenic BRCA1 or BRCA2 mutation.

Both studies aim to gain deeper insights and to identify factors that influence the communication process within the family, because informing the relatives about cancer genetic test results is the primary means for alerting relatives about their hereditary risk, which may have implications for medical care. Nevertheless, interfamily communication can be distressing and pose difficulties for high-risk individuals.³ As also shown by Patenaude et al¹ we found that female relatives were informed more frequently than male relatives. Eighty-five percent of sisters (n = 212) and 77% of daughters (n = 198) were informed about the test results compared with 57% of brothers (n = 202) and 58% of sons (n = 191). Furthermore, Patenaude et al pointed out that the mutation status has only a weak influence on the communication process and stated "it was somewhat surprising that the positive versus true-negative nature of the test result was not a significant factor in the telling of first-degree relatives, except in the telling of results to children."¹ As summarized in Table 1, this finding is supported by the results of our study. Due to the design of our study providing us with a three-generation family tree, we had the opportunity to investigate transmission of the results to second-degree relatives. Here differences were apparent. There was a trend (P = .065), that BRCA1/2 mutation carriers disseminate the test results to distant relatives less frequently than true-negative women, who do not carry the known familial mutation. Whereas true-negative women shared their test result with 57% of their nieces and 43% of their nephews, mutation carriers did so with only 27% of their nieces and 22% of their nephews (Table 1). As in the study of Patenaude et al, we found that the information of an uninformative test result (either no mutation in the family or an unclassified variant of unknown significance) is generally reported less frequently within the family than the finding or exclusion of a BRCA1/2 mutation.

In our study, mutation carriers were more likely to experience difficulties and distress during the communication of their test results. However, the semistructured survey we performed did not allow the evaluation of the underlying causes of the conflicts. It is possible that the difficulties encountered were primarily due to the test results, but it is also possible that they were due to pre-existing conflicts among family members or due to difficulties explaining the meaning of the test results. Anticipating conflicts or negative feedback may be reasons why some mutation carriers avoid disseminating their test results.

It has to be reasoned from both studies that providers of genetic services are likely to deal with counseled patients who are not willing to disclose the genetic test results to relatives who may benefit from this information.⁴ Because targeted therapy against BRCA1/2-associated breast cancer is currently being established, additional research is necessary in order to learn how to deal with conflicts that may possibly arise and that are associated with the transmission of genetic information in families affected by hereditary breast and ovarian cancer.^5,6

Authors' Disclosures of Potential Conflicts of Interest

The authors indicated no potential conflicts of interest.

ACKNOWLEDGMENTS

This work was supported by the BMBF Forschung zu den ethischen, rechtlichen und sozialen Aspekten der Molekularen Medizin (Project No. 01GP0260), the German Research Foundation Kommunikation genetischer Risiken in Familien mit nachgewiesener BRCA1/2-Mutation (Projects No. NI 243/17-1, NI 243/17-2, VO 231/15-1, and VO 231/15-2), and the German Cancer Aid (Deutsche Krebshilfe, Projects No. 70-2001, 70-2002, and 70-2005). Brigitte Schlegelberger represented the German Cancer Aid Consortium on Hereditary Breast and Ovarian Cancer in this study.

REFERENCES

1. Patenaude AF, Dorval M, DiGianni LS, et al: Sharing BRCA1/2 test results with first-degree relatives: Factors predicting who women tell. J Clin Oncol 24:700-706, 2006[Abstract/Free Full Text]

2. Nippert I, Schlegelberger B, and the members of the Consortium: Hereditary Breast and Ovarian Cancer of the Deutsche Krebshilfe: Women's experiences of undergoing BRCA1 and BRCA2 testing: Organisation of the German Hereditary Breast and Ovarian Cancer Consortium survey and preliminary data from Münster. Community Genet 6:249-258, 2003

3. Hopwood P: Psychosocial aspects of risk communication and mutation testing in familial breast-ovarian cancer. Curr Opin Oncol 17:340-344, 2005[CrossRef][Medline]

4. Narod SA, Offit K: Prevention and management of hereditary breast cancer. J Clin Oncol 23:1656-1663, 2005[Free Full Text]

5. Farmer H, McCabe N, Lord CJ, et al: Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 434:917-921, 2005[CrossRef][Medline]

6. Bryant HE, Schultz N, Thomas HD, et al: Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature 434:913-917, 2005[CrossRef][Medline]

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