Abstract
Introduction: Carriers of a hereditary mutation in BRCA are at high risk for breast and ovarian cancer. The first person from a family known to carry the mutation, the index person, has to share genetic information with relatives. This study is aimed at determining the number of relatives tested for a BRCA mutation, and the exploration of facilitating and debilitating factors in the transmission of genetic information from index patient to relatives. Methods: The study includes 50 female index patients, with a germline mutation in either BRCA1 or BRCA2. Results: The percentage of first- and second-degree relatives tested for the BRCA-mutation was 36%. Uptake levels for predictive BRCA-mutation testing could not be explained by demographic or counseling characteristics, nor by cancer-related history. In 14 families, fewer than 20% of first- and second-degree relatives were tested. These families were compared with the other families. In retrospect, the index patients of families with few BRCA-mutation tests more often asked for support in the communication with family members (62% vs. 27%). A psychosocial worker had been absent more often during counseling (39% vs. 9%). Emotional factors debilitating the information transmission were only reported by index patients from families with few BRCA-mutation tests (18% vs. 0%), who also informed their parents less often (21% vs. 67%) and did so less often personally (38% vs. 71%). Conclusion: Uptake of predictive BRCA-mutation testing by first- and second-degree relatives is low. Emotional and behavioral factors of index patients are related to this uptake.
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References
AC DudokdeWit A Tibben PG Frets et al. (1997) ArticleTitleBRCA1 in the family: a case description of the psychological implications Am J Med Genet 71 63–71 Occurrence Handle10.1002/(SICI)1096-8628(19970711)71:1<63::AID-AJMG12>3.0.CO;2-T Occurrence Handle1:STN:280:ByiA2MfmslE%3D Occurrence Handle9215771
E Claes G Evers-Kiebooms A Boogaerts et al. (2003) ArticleTitleCommunication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients Am J Med Genet 116 11–9 Occurrence Handle10.1002/ajmg.a.10868
J Speice SH McDaniel PT Rowley S Loader (2002) ArticleTitleFamily issues in a psychoeducation group for women with a BRCA mutation Clin Genet 62 121–7 Occurrence Handle10.1034/j.1399-0004.2002.620204.x Occurrence Handle1:STN:280:DC%2BD38vntFKjtw%3D%3D Occurrence Handle12220449
EMA Bleiker NK Aaronson FH Menko et al. (1997) ArticleTitleGenetic counseling for hereditary cancer: a pilot study on experiences of patients and family members Pat Educ Couns 32 107–16 Occurrence Handle10.1016/S0738-3991(97)00067-0 Occurrence Handle1:STN:280:DyaK1c%2FhslaisA%3D%3D
MH Linden Particlevan der (2000) ArticleTitlePsychosocial counseling after diagnosis for non-carriers of hereditary breast cancer or ovarian cancer; is it needed? Ned Tijdschr Geneesk 144 2381–4
L Lodder PG Frets RW Trijsburg et al. (2001) ArticleTitlePsychological impact of receiving a BRCA1/BRCA2 test result Am J Med Genet 98 15–24 Occurrence Handle10.1002/1096-8628(20010101)98:1<15::AID-AJMG1014>3.0.CO;2-0 Occurrence Handle1:STN:280:DC%2BD3MzmsFClsw%3D%3D Occurrence Handle11426450
C Lerman RT Croyle (1996) ArticleTitleEmotional and behavioral responses to genetic testing for susceptibility to cancer Oncology (Huntingt) 10 191–5 Occurrence Handle1:STN:280:BymH3srjslE%3D
RT Croyle C Lerman (1999) ArticleTitleRisk communication in genetic testing for cancer susceptibility J Natl Cancer Inst Monogr 25 59–66 Occurrence Handle10854459
J Green M Richards F Murton et al. (1997) ArticleTitleFamily communication and genetic counseling: The case of hereditary breast and ovarian cancer J Genetic Couns 6 45–60 Occurrence Handle10.1023/A:1025611818643
N Hallowell F Murton (1998) ArticleTitleThe value of written summaries of genetic consultations Pat Educ Couns 35 27–34 Occurrence Handle10.1016/S0738-3991(98)00080-9 Occurrence Handle1:STN:280:DyaK1M%2FltVSrug%3D%3D
MPM Richards (1999) ArticleTitleGenetic counseling for those with a family history of breast and ovarian cancer Current practice and ethical issues. Acta Oncol 38 559–65 Occurrence Handle1:STN:280:DyaK1MzlsVyqtQ%3D%3D
LM Koehly SK Peterson BG Watts et al. (2003) ArticleTitleA social network analysis of communication about Hereditary Nonpolyposis Colorectal Cancer genetic testing and family functioning Canc Epid Biom Prev 12 304–13
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Landsbergen, K., Verhaak, C., Kraaimaat, F. et al. Genetic uptake in BRCA-mutation families is related to emotional and behavioral communication characteristics of index patients. Familial Cancer 4, 115–119 (2005). https://doi.org/10.1007/s10689-004-7991-2
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DOI: https://doi.org/10.1007/s10689-004-7991-2