Reproductive decision-making in young female carriers of a BRCA mutation

被引:61
作者
Donnelly, L. S. [1 ,2 ]
Watson, M. [3 ,4 ,5 ]
Moynihan, C. [3 ,4 ,6 ]
Bancroft, E. [6 ]
Evans, D. G. R. [7 ]
Eeles, R. [6 ]
Lavery, S. [8 ]
Ormondroyd, E. [9 ]
机构
[1] Univ S Manchester Hosp, Nightingale Ctr, Manchester M20 8LR, Lancs, England
[2] Univ S Manchester Hosp, Genesis Prevent Ctr, Manchester M20 8LR, Lancs, England
[3] Inst Canc Res, Psychol Res Grp, Surrey, England
[4] Royal Marsden NHS Fdn Trust, Surrey, England
[5] UCL, Res Dept Clin Educ & Hlth Psychol, London, England
[6] Royal Marsden NHS Fdn Trust, Inst Canc Res, Canc Genet Unit, Oncogenet Team,Div Canc Genet & Epidemiol, Sutton, Surrey, England
[7] St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England
[8] Hammersmith Hosp, Dept Reprod Med, London, England
[9] John Radcliffe Hosp, Dept Cardiovasc Med, Oxford OX3 9DU, England
关键词
preimplantation genetic diagnosis; BRCA; reproductive decisions; cancer; ethics; CANCER-RISK; PSYCHOLOGICAL DISTRESS; HUNTINGTONS-DISEASE; BREAST-CANCER; GENETIC RISK; WOMEN; ATTITUDES; PERCEPTION; REDUCTION;
D O I
10.1093/humrep/des441
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
How do young women, who were identified as carrying a BRCA gene mutation before they had children, approach reproductive decision-making and what are their attitudes towards reproductive genetic testing? Reproductive decision-making within the context of cancer risk is complex and influenced by personal experiences of cancer. Younger women were not concerned with reproductive decision-making at the time of their genetic test; however, the impact on subsequent reproductive decision-making was considerable and left them with unanticipated dilemmas, such as having children who would be at risk of inheriting cancer predisposition, timing risk-reducing surgery and changing perceptions of responsibility. Individuals carrying gene mutations predisposing to hereditary breast/ovarian cancer have concerns about passing on the gene mutation to children. Qualitative methodology and thematic analysis. Data were collected through semi-structured interviews with 25 women aged 1845 who had received a positive result for a BRCA1 or BRCA2 gene mutation while childless. Analysis revealed four central themes: (i) the impact of cancer on reproductive decision-making; (ii) motivation for genetic testing; (iii) risk management and timing of planning children; and (iv) optimism for future medical advancements. This study explores the views of female BRCA carriers. Further research should explore the views of couples, men, and include samples with greater ethnic and social diversity. This evidence highlights the need for reproductive decision-making to be addressed at the time of pretest genetic counselling. More information should be provided on reproductive options as well as counselling/support to guide womens reproductive decision-making and prenatal testing options at the time they undertake genetic testing. This research was supported by Cancer Research UK (Number C1226 A7920) and NIHR support to the Biomedical Research Centre at The Institute of Cancer Research and RMH. The authors have no conflicts of interest to declare. Not applicable.
引用
收藏
页码:1006 / 1012
页数:7
相关论文
共 36 条
[1]   5-YEAR STUDY OF PRENATAL TESTING FOR HUNTINGTONS-DISEASE - DEMAND, ATTITUDES, AND PSYCHOLOGICAL-ASSESSMENT [J].
ADAM, S ;
WIGGINS, S ;
WHYTE, P ;
BLOCH, M ;
SHOKEIR, MHK ;
SOLTAN, H ;
MESCHINO, W ;
SUMMERS, A ;
SUCHOWERSKY, O ;
WELCH, JP ;
HUGGINS, M ;
THEILMANN, J ;
HAYDEN, MR .
JOURNAL OF MEDICAL GENETICS, 1993, 30 (07) :549-556
[2]   Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history:: A combined analysis of 22 studies [J].
Antoniou, A ;
Pharoah, PDP ;
Narod, S ;
Risch, HA ;
Eyfjord, JE ;
Hopper, JL ;
Loman, N ;
Olsson, H ;
Johannsson, O ;
Borg, Å ;
Pasini, B ;
Radice, P ;
Manoukian, S ;
Eccles, DM ;
Tang, N ;
Olah, E ;
Anton-Culver, H ;
Warner, E ;
Lubinski, J ;
Gronwald, J ;
Gorski, B ;
Tulinius, H ;
Thorlacius, S ;
Eerola, H ;
Nevanlinna, H ;
Syrjäkoski, K ;
Kallioniemi, OP ;
Thompson, D ;
Evans, C ;
Peto, J ;
Lalloo, F ;
Evans, DG ;
Easton, DF .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) :1117-1130
[3]   Psychological distress in women seeking genetic counseling for breast-ovarian cancer risk: The contributions of personality and appraisal [J].
Audrain, J ;
Schwartz, MD ;
Lerman, C ;
Hughes, C ;
Peshkin, BN ;
Biesecker, B .
ANNALS OF BEHAVIORAL MEDICINE, 1997, 19 (04) :370-377
[4]  
Braun V., 2006, Qualitative Research in Psychology, V3, P77, DOI 10.1191/1478088706qp063oa
[5]   The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation [J].
Decruyenaere, Marleen ;
Evers-Kiebooms, Gerry ;
Boogaerts, Andrea ;
Philippe, Kristien ;
Demyttenaere, Koen ;
Dom, Rene ;
Vandenberghe, Wim ;
Fryns, Jean-Pierre .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (04) :453-462
[6]  
Downing Claudia, 2005, J Genet Couns, V14, P219, DOI 10.1007/s10897-005-0619-3
[7]   Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting:: Risks of breast/ovarian cancer quoted should reflect the cancer burden in the family [J].
Evans, D. Gareth ;
Shenton, Andrew ;
Woodward, Emma ;
Lalloo, Fiona ;
Howell, Anthony ;
Maher, Eamonn R. .
BMC CANCER, 2008, 8 (1)
[8]   Are BRCA1- and BRCA2-related breast cancers associated with increased mortality? -: art. no. E7 [J].
Evans, DG ;
Howell, A .
BREAST CANCER RESEARCH, 2004, 6 (01)
[9]   Opinion about reproductive decision making among individuals undergoing BRCA1/2 genetic testing in a multicentre Spanish cohort [J].
Fortuny, Daniel ;
Balmana, Judith ;
Grana, Begona ;
Torres, Asuncion ;
Ramon y Cajal, Teresa ;
Darder, Esther ;
Gadea, Neus ;
Velasco, Angela ;
Lopez, Consol ;
Sanz, Judit ;
Alonso, Carmen ;
Brunet, Joan .
HUMAN REPRODUCTION, 2009, 24 (04) :1000-1006
[10]   Predictive testing for BRCA1/2: attributes, risk perception and management in a multi-centre clinical cohort [J].
Foster, C ;
Evans, DGR ;
Eeles, R ;
Eccles, D ;
Ashley, S ;
Brooks, L ;
Davidson, R ;
Mackay, J ;
Morrison, PJ ;
Watson, M .
BRITISH JOURNAL OF CANCER, 2002, 86 (08) :1209-1216