Abstract
Males with a BRCA1/BRCA2 mutation are not at greatly increased risk for cancer, whereas their (grand)daughters, and other female relatives who carry the mutation, are. Males from BRCA1/BRCA2 families may opt for genetic testing to confirm whether or not they may have transmitted the mutation to their children and, if so, to inform them at an appropriate age about the genetic risk and its implications. The psychological implications of genetic testing for men at risk of being a BRCA1/BRCA2 mutation carrier have received little attention. We report on 28 men requesting BRCA1 or BRCA2 testing, and their partners. Men were at 25% (n =4) or 50% risk (n =24) of being a mutation carrier, the majority with daughters and half of them with daughters aged over 20 years. Levels of psychological distress were assessed several weeks before and after disclosure of the test result. In addition, we investigated the level of intrusive thoughts and feelings about breast and ovarian cancer and the tendency to avoid these. By means of interviews and questionnaires, participants could report on (expected) emotional implications of genetic testing for themselves and their children, on experiences with cancer in the family and on personality trait optimism. Distress levels prior to the result in tested men and their partners were low. Many men and partners expected the test result to affect their children's, but not their own level of problems. Men without daughters and those with an optimistic personality had especially low distress prior to disclosure. Most men reported that they did not actively avoid the issue. Only four of the 28 men were identified as mutation carriers. High distress after disclosure of the result was reported by one mutation carrier and by three non-mutation carriers. Verbatim transcripts from interviews showed a large variation of psychological reactions in male mutation carriers (eg regarding guilt feelings). Low pre-test distress in males does not necessarily indicate avoidance of the issue. Future studies may indicate which psychological reactions occur in male mutation carriers when the problem becomes more acute, eg when a daughter is found to carry the mutation and/or is diagnosed with breast or ovarian cancer.
Similar content being viewed by others
Article PDF
References
Miki Y, Swensen J, Shattuck-Eidens D et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 Science 1994 266: 66–71
Wooster R, Bignell G, Lancaster J et al. Identification of the breast cancer susceptibility gene BRCA2 Nature 1995 378: 789–792
Thorlacius S, Struewing JP, Hartge P et al. Population-based study of risk of breast cancer in carriers of BRCA2 mutation Lancet 1998 352: 1337–1339
The Breast Cancer Linkage Consortium . Cancer risks in BRCA2 mutation carriers J Natl Cancer Inst 1999 91: 1310–1316
Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE . Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium Lancet 1994 343: 692–695
Struewing JP, Lerman C, Kase RG, Giambarresi TR, Tucker MA . Anticipated uptake and impact of genetic testing in hereditary breast and ovarian cancer families Cancer Epidemiol Biomarkers Prev 1995 4: 169–173
McAllister MF, Evans DG, Ormiston W, Daly P . Men in breast cancer families: a preliminary qualitative study of awareness and experience J Med Genet 1998 35: 739–744
DudokdeWit AC, Tibben A, Frets PG, Meijers-Heijboer EJ, Devilee P, Niermeijer MF . Males at-risk for the BRCA1-gene, the psychological impact Psycho-oncology 1996 5: 251–257
Lerman C, Hughes C, Lemon SJ et al. What you don't know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing [see comments] J Clin Oncol 1998 16: 1650–1654
Lodder LN, Frets PG, Trijsburg RW et al. Presymptomatic testing for BRCA1 and BRCA2: How distressing are the pre-test weeks? J Med Gen 1999 36: 906–913
Tibben A, Timman R, Bannink EC, Duivenvoorden HJ . Three-year follow-up after presymptomatic testing for Huntington's disease in tested individuals and partners Health Psychol 1997 16: 20–35
Zigmond AS, Snaith RP . The Hospital Anxiety and Depression Scale Acta Psychiat Scand 1983 67: 361–370
Channer KS, Papouchado M, James MA, Rees JR . Anxiety and depression in patients with chest pain referred for exercise testing Lancet 1985 2: 820–823
Spinhoven PH, Ormel J, Sloekers PPA, Kempen GIJM . A validation study of the Hospital Anxiety and Depression Scale (HADS) in different groups of Dutch subjects Psychol Med 1997 27: 363–370
Derogatis LR, Rickels K, Rock AF . The SCL-90 and the MMPI: A step in the validation of a new self-report scale Br J Psychiatry 1976 128: 280–289
Arrindell WA, Ettema H . Dimensional structure, reliability and validity of the Dutch version of the Symptom Checklist (SCL-90): Data based on a phobic and a “normal” population Nederlands Tijdschrift voor de Psychologie en Haar Grensgebieden 1981 36: 77–108
Horowitz MJ, Wilner N, Alvarez W . Impact of Event Scale: A measure of subjective stress Psychoso Med 1979 41: 209–218
Tibben A, Frets PG, van de Kamp JJ et al. Presymptomatic DNA-testing for Huntington disease: pretest attitudes and expectations of applicants and their partners in the Dutch program Am J Med Genet 1993 48: 10–16
Bleiker EM, van der Ploeg HM, Hendriks JH, Ader HJ . Personality factors and breast cancer development: a prospective longitudinal study J Natl Cancer Inst 1996 88: 1478–1482
Scheier MF, Carver CS . Optimism, coping, and health: Assessment and implications of generalized outcome expectancies Health Psychol 1985 4: 219–247
Madow L. . Guilt: How to recognize and cope with it Northvale: Jason Aronson inc 1988
Acknowledgements
The authors are indebted to Dr DJJ Halley and Dr AMW van den Ouweland, involved in mutation analysis at the Department of Clinical Genetics, Erasmus University Rotterdam.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Lodder, L., Frets, P., Trijsburg, R. et al. Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing. Eur J Hum Genet 9, 492–500 (2001). https://doi.org/10.1038/sj.ejhg.5200668
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200668
Keywords
This article is cited by
-
Psychological aspects, risk and protective factors related to BRCA genetic testing: a review of the literature
Supportive Care in Cancer (2019)
-
Identification as a Mutation Carrier and Effects on Life According to Experiences of Finnish Male BRCA1/2 Mutation Carriers
Journal of Genetic Counseling (2018)
-
Changes of Socio-demographic data of clients seeking genetic counseling for hereditary breast and ovarian cancer due to the “Angelina Jolie Effect”
BMC Cancer (2016)
-
The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in Finland
Journal of Genetic Counseling (2016)
-
Predictive Genetic Testing and Alternatives to Face to Face Results Disclosure: A Retrospective Review of Patients Preference for Alternative Modes of BRCA 1 and 2 Results Disclosure in the Republic of Ireland
Journal of Genetic Counseling (2016)