Is no news good news? Inconclusive genetic test results in BRCA1 and BRCA2 from patients and professionals' perspectives

Hereditary Cancer in Clinical Practice

Volumn 8, Issue 1, 2010, Pages

  Ardern Jones, Audrey ^a   Kenen, Regina ^b   Lynch, Elly ^a,c   Doherty, Rebecca ^d   Eeles, Rosalind ^a,d  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b The College of New Jersey   (United States)

^c AUSTIN HOSPITAL   (Australia)

^d INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; ARTICLE; ATTITUDE TO ILLNESS; BREAST CANCER; BREAST SURGERY; CANCER PREVENTION; CANCER RISK; CLINICAL ARTICLE; FEMALE; FRUSTRATION; GENE MUTATION; GENE TECHNOLOGY; GENETIC ANALYSIS; HUMAN; MEDICAL SPECIALIST; NURSE; ONCOLOGY; PATIENT DECISION MAKING; PHYSICIAN ATTITUDE; QUALITATIVE RESEARCH; RELATIVE;

EID: 79551568374     PISSN: 17312302     EISSN: 18974287     Source Type: Journal    
DOI: 10.1186/1897-4287-8-1     Document Type: Article

References (34)

1. Vadaparampil ST, Wey JP, Kinney AY. Psychosocial aspects of genetic counseling and testing. Semin Oncol Nurs 2004, 20:186-195. 10.1053/j.soncn.2004.04.005, 15491028.
2. van Dijk S, Timmermans DR, Meijers-Heijboer H, Tibben A, van Asperen CJ, Otten W. Clinical characteristics affect the impact of an uninformative DNA test result: the course of worry and distress experienced by women who apply for genetic testing for breast cancer. J Clin Oncol 2006, 24:3672-3677. 10.1200/JCO.2005.03.7259, 16877736.
3. Armes JE, Venter DJ. The pathology of inherited breast cancer. Pathology 2002, 34:309-314. 10.1080/00313020220147113, 12190286.
4. Lakhani SR, Vijver MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L, Easton DF. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 2002, 20:2310-2318. 10.1200/JCO.2002.09.023, 11981002.
5. Moller P, Borg A, Evans DG, Haites N, Reis MM, Vasen H, Anderson E, Steel CM, Apold J, Goudie D, Howell A, Lalloo F, Maehle L, Gregory H, Heimdal K. Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy. Int J Cancer 2002, 101:555-559. 10.1002/ijc.10641, 12237897.
6. Sowter HM, Ashworth A. BRCA1 and BRCA2 as ovarian cancer susceptibility genes. Carcinogenesis 2005, 26:1651-1656. 10.1093/carcin/bgi136, 15917310.
7. Hamilton RJ, Bowers BJ, Williams JK. Disclosing genetic test results to family members. J Nurs Scholarsh 2005, 37:18-24. 10.1111/j.1547-5069.2005.00007.x, 15813582.
8. O'Neill SC, DeMarco T, Peshkin BN, Rogers S, Rispoli J, Brown K, Valdimarsdottir H, Schwartz MD. Tolerance for uncertainty and perceived risk among women receiving uninformative BRCA1/2 test results. Am J Med Genet C Semin Med Genet 2006, 142C:251-259. 10.1002/ajmg.c.30104, 17024668.
9. Patenaude AF, Dorval M, DiGianni LS, Schneider KA, Chittenden A, Garber JE. Sharing BRCA1/2 test results with first-degree relatives: factors predicting who women tell. J Clin Oncol 2006, 24:700-706. 10.1200/JCO.2005.01.7541, 16446344.
10. Gadzicki D, Wingen LU, Teige B, Horn D, Bosse K, Kreuz F, Goecke T, Schafer D, Voigtlander T, Fischer B, Froster U, Welling B, Debatin I, Weber BH, Schönbuchner I, Nippert I, Schlegelberger B. Communicating BRCA1 and BRCA2 genetic test results. J Clin Oncol 2006, 24:2969-2970. 10.1200/JCO.2006.06.3750, 16782939.
11. Hughes C, Lerman C, Schwartz M, Peshkin BN, Wenzel L, Narod S, Corio C, Tercyak KP, Hanna D, Isaacs C, Main D. All in the family: evaluation of the process and content of sisters' communication about BRCA1 and BRCA2 genetic test results. Am J Med Genet 2002, 107:143-150. 10.1002/ajmg.10110, 11807889.
12. Dorval M, Gauthier G, Maunsell E, Dugas MJ, Rouleau I, Chiquette J, Plante M, Laframboise R, Gaudet M, Bridge PJ, Simard J. No evidence of false reassurance among women with an inconclusive BRCA1/2 genetic test result. Cancer Epidemiol Biomarkers Prev 2005, 14:2862-2867. 10.1158/1055-9965.EPI-05-0512, 16365001.
13. Maheu C, Thorne S. Receiving inconclusive genetic test results: an interpretive description of the BRCA1/2 experience. Res Nurs Health 2008, 31:553-562. 10.1002/nur.20286, 18449940.
14. van Dijk S, Otten W, Tollenaar RA, van Asperen CJ, Tibben A. Putting it all behind: long-term psychological impact of an inconclusive DNA test result for breast cancer. Genet Med 2008, 10:745-750. 10.1097/GIM.0b013e318185213e, 18813137.
15. Cypowyj C, Eisinger F, Huiart L, Sobol H, Morin M, Julian-Reynier C. Subjective interpretation of inconclusive BRCA1/2 cancer genetic test results and transmission of information to the relatives. Psychooncology 2009, 18:209-215. 10.1002/pon.1407, 19061202.
16. Julian-Reynier C, Eisinger F, Moatti JP, Sobol H. Physicians' attitudes towards mammography and prophylactic surgery for hereditary breast/ovarian cancer risk and subsequently published guidelines. Eur J Hum Genet 2000, 8:204-208. 10.1038/sj.ejhg.5200418, 10780786.
17. Matloff ET, Shappell H, Brierley K, Bernhardt BA, McKinnon W, Peshkin BN. What would you do? Specialists' perspectives on cancer genetic testing, prophylactic surgery, and insurance discrimination. J Clin Oncol 2000, 18:2484-2492.
18. Beeson D. Nuance, complexity, and context: qualitative methods in genetic counseling research. J Genet Couns 1997, 6:21-43. 10.1023/A:1025659701805, 11660391.
19. Glaser G, Strauss A. The discovery of grounded theory: strategies for qualitative research. 1967, New York: Aldine.
20. McAllister M. Grounded Theory in Genetic Counseling Research. Journal of Genetic Counseling 2001, 10:233-250.
21. Strauss A, Corbin J. Grounded theory methodology. The SAGE handbook of qualitative research 1994, 273-285. Thousand Oaks: SAGE Publications, Denzin NK, Lincoln YS.
22. Mathieson CM, Stam H. Renegotiating identity: cancer narratives. Sociol Health Illn 1995, 17:283-306.
23. Smith JA. Evolving issues for qualitative psychology. Handbook of Qualitative Research Methods 1996, 273-285. Leicester: The British Psychological Society, Richardson JTE.
24. Fern EF. Advanced focus group research. 2001, Thousand Oaks, Calif. London: SAGE, Edward F Fern.
25. Krueger RA. Focus groups: a practical guide for applied research. foreword by Michael Quinn Patton 2000, Newbury Park, Calif.: Sage Publications, Richard A Krueger, 3.
26. Merton RM, Fiske M, Kendall PL. The Focused Interview: A Manual of Problems and Procedures. 1990, New York: Free Press.
27. Hartmann LC, Sellers TA, Schaid DJ, Frank TS, Soderberg CL, Sitta DL, Frost MH, Grant CS, Donohue JH, Woods JE, McDonnell SK, Vockley CW, Deffenbaugh A, Couch FJ, Jenkins RB. Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst 2001, 93:1633-1637. 10.1093/jnci/93.22.1733, 11698567.
28. Ardern-Jones A, Kenen R, Eeles R. Too much, too soon? Patients and health professionals' views concerning the impact of genetic testing at the time of breast cancer diagnosis in women under the age of 40. Eur J Cancer Care (Engl) 2005, 14:272-281. 10.1111/j.1365-2354.2005.00574.x, 15952973.
29. Loescher LJ, Lim KH, Leitner O, Ray J, D'Souza J, Armstrong CM. Cancer surveillance behaviors in women presenting for clinical BRCA genetic susceptibility testing. Oncol Nurs Forum 2009, 36:E57-67. 10.1188/09.ONF.E57-E67, 19273395.
30. Frost CJ, Venne V, Cunningham D, Gerritsen-McKane R. Decision making with uncertain information: learning from women in a high risk breast cancer clinic. J Genet Couns 2004, 13:221-236. 10.1023/B:JOGC.0000027958.02383.a9, 15604633.
31. Geirdal AO, Reichelt JG, Dahl AA, Heimdal K, Maehle L, Stormorken A, Moller P. Psychological distress in women at risk of hereditary breast/ovarian or HNPCC cancers in the absence of demonstrated mutations. Fam Cancer 2005, 4:121-126. 10.1007/s10689-004-7995-y, 15951962.
32. Sheinfeld Gorin S, Albert SM. The meaning of risk to first degree relatives of women with breast cancer. Women Health 2003, 37:97-117. 10.1300/J013v37n03_07, 12839310.
33. Hallowell N, Foster C, Ardern-Jones A, Eeles R, Murday V, Watson M. Genetic testing for women previously diagnosed with breast/ovarian cancer: examining the impact of BRCA1 and BRCA2 mutation searching. Genet Test 2002, 6:79-87. 10.1089/10906570260199320, 12215246.
34. Kenen RH, Shapiro PJ, Friedman S, Coyne JC. Peer-support in coping with medical uncertainty: discussion of oophorectomy and hormone replacement therapy on a web-based message board. Psychooncology 2007, 16:763-771. 10.1002/pon.1152, 17230435.