Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature

Kuusisto KM, Bebel A, Vihinen M, Schleutker J, Sallinen SL. Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals. Breast Canc Res : BCR. 2011;13(1):R20. https://doi.org/10.1186/bcr2832.

CAS  Article  Google Scholar 

Maxwell KN, Nathanson KL. Common breast cancer risk variants in the post-COGS era: a comprehensive review. Breast Canc Res : BCR. 2013;15(6):212. https://doi.org/10.1186/bcr3591.

CAS  Article  Google Scholar 

Hamilton, Jada G, and Mark E Robson. “Psychosocial Effects of Multigene Panel Testing in the Context of Cancer Genomics.” The Hastings Center report vol. 49 Suppl 1,Suppl 1 (2019): S44-S52. https://doi.org/10.1002/hast.1016

Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, Pertesi M, Voegele C, Mebirouk N, Robinot N, Durand G, Chenevix-Trench G. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. J Med Genet. 2016;53(5):298–309. https://doi.org/10.1136/jmedgenet-2015-103529.

CAS  Article  PubMed  Google Scholar 

Tung N, Domchek SM, Stadler Z, Nathanson KL, Couch F, Garber JE, Offit K, Robson ME. Counselling framework for moderate-penetrance cancer-susceptibility mutations. Nat Rev Clin Oncol. 2016;13(9):581–8. https://doi.org/10.1038/nrclinonc.2016.90.

CAS  Article  PubMed  PubMed Central  Google Scholar 

Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Easton DF. Breast cancer risk genes - association analysis in more than 113,000 women. N Engl J Med. 2021;384(5):428–39. https://doi.org/10.1056/NEJMoa1913948.

Article  Google Scholar 

Hu C, Hart SN, Gnanaolivu R, Huang H, Lee KY, Na J, Gao C, Lilyquist J, Yadav S, Boddicker NJ, Samara R, Klebba J, Ambrosone CB, Anton-Culver H, Auer P, Bandera EV, Bernstein L, Bertrand KA, Burnside ES, Carter BD, Couch FJ. A population-based study of genes previously implicated in breast cancer. N Engl J Med. 2021;384(5):440–51. https://doi.org/10.1056/NEJMoa2005936.

Article  PubMed  PubMed Central  Google Scholar 

Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Goggins M, Hutton ML, Karlan BY, Khan S, Klein C, Kohlmann W, Kurian AW, Laronga C, Litton JK, Mak JS, Menendez CS, Merajver SD, Yurgelun MB. NCCN clinical practice guidelines in oncology (NCCN Guidelines) genetic/familial high-risk assessment: beast, ovarian, and pancreatic. NCCN, Version 2.2021. 2020.

Google Scholar 

Pilarski R. How have multigene panels changed the clinical practice of genetic counseling and testing. J Natl Compr Canc Netw. 2021;19(1):103–8. https://doi.org/10.6004/jnccn.2020.7674.

Article  PubMed  Google Scholar 

Bennette CS, Trinidad SB, Fullerton SM, Patrick D, Amendola L, Burke W, Hisama FM, Jarvik GP, Regier DA, Veenstra DL. Return of incidental findings in genomic medicine: measuring what patients value–development of an instrument to measure preferences for information from next-generation testing (IMPRINT). Genet Med. 2013;15(11):873–81. https://doi.org/10.1038/gim.2013.63.

CAS  Article  PubMed  Google Scholar 

Blanchette PS, Spreafico A, Miller FA, Chan K, Bytautas J, Kang S, Bedard PL, Eisen A, Potanina L, Holland J, Kamel-Reid S, McPherson JD, Razak AR, Siu LL. Genomic testing in cancer: patient knowledge, attitudes, and expectations. Cancer. 2014;120(19):3066–73. https://doi.org/10.1002/cncr.28807.

Article  PubMed  Google Scholar 

Gray SW, Hicks-Courant K, Lathan CS, Garraway L, Park ER, Weeks JC. Attitudes of patients with cancer about personalized medicine and somatic genetic testing. Journal of oncology practice. 2012;8(6):329–35. https://doi.org/10.1200/JOP.2012.000626.

Article  PubMed  PubMed Central  Google Scholar 

Bradbury AR, Patrick-Miller L, Long J, Powers J, Stopfer J, Forman A, Rybak C, Mattie K, Brandt A, Chambers R, Chung WK, Churpek J, Daly MB, Digiovanni L, Farengo-Clark D, Fetzer D, Ganschow P, Grana G, Gulden C, Hall M, Domchek SM. Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility. Genet Med. 2015;17(6):485–92. https://doi.org/10.1038/gim.2014.134.

Article  PubMed  Google Scholar 

Domchek SM, Bradbury A, Garber JE, Offit K, Robson ME. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol. 2013;31(10):1267–70. https://doi.org/10.1200/JCO.2012.46.9403.

Article  PubMed  Google Scholar 

Vadaparampil ST, Miree CA, Wilson C, Jacobsen PB. Psychosocial and behavioral impact of genetic counseling and testing. Breast Dis. 2006;27:97–108. https://doi.org/10.3233/bd-2007-27106.

Article  PubMed  Google Scholar 

Graves KD, Vegella P, Poggi EA, Peshkin BN, Tong A, Isaacs C, Finch C, Kelly S, Taylor KL, Luta G, Schwartz MD. Long-term psychosocial outcomes of BRCA1/BRCA2 testing: differences across affected status and risk-reducing surgery choice. Cancer Epidemiol Biomarkers Prev. 2012;21(3):445–55. https://doi.org/10.1158/1055-9965.EPI-11-0991.

CAS  Article  PubMed  PubMed Central  Google Scholar 

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(22):3672–7. https://doi.org/10.1200/JCO.2005.03.7259.

Article  PubMed  Google Scholar 

Vos, J., Gómez-García, E., Oosterwijk, J. C., Menko, F. H., Stoel, R. D., van Asperen, C. J., Jansen, A. M., Stiggelbout, A. M., & Tibben, A. Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result. Psycho-oncology. 2012;21(1):29–42. https://doi.org/10.1002/pon.1864

Eijzenga W, Hahn DE, Aaronson NK, Kluijt I, Bleiker EM. Specific psychosocial issues of individuals undergoing genetic counseling for cancer - a literature review. J Genet Couns. 2014;23(2):133–46. https://doi.org/10.1007/s10897-013-9649-4.

Article  PubMed  Google Scholar 

Bradbury AR, Patrick-Miller LJ, Egleston BL, DiGiovanni L, Brower J, Harris D, Stevens EM, Maxwell KN, Kulkarni A, Chavez T, Brandt A, Long JM, Powers J, Stopfer JE, Nathanson KL, Domchek SM. Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing. Genet Med. 2016;18(1):25–33. https://doi.org/10.1038/gim.2015.19.

Article  PubMed  Google Scholar 

Esteban I, Vilaró M, Adrover E, Angulo A, Carrasco E, Gadea N, Sánchez A, Ocaña T, Llort G, Jover R, Cubiella J, Servitja S, Herráiz M, Cid L, Martínez S, Oruezábal-Moreno MJ, Garau I, Khorrami S, Herreros-de-Tejada A, Morales R, Balmaña J. Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain. Psychooncology. 2018;27(6):1530–7. https://doi.org/10.1002/pon.4686.

CAS  Article  PubMed  Google Scholar 

Lumish HS, Steinfeld H, Koval C, Russo D, Levinson E, Wynn J, Duong J, Chung WK. Impact of panel gene testing for hereditary breast and ovarian cancer on patients. J Genet Couns. 2017;26(5):1116–29. https://doi.org/10.1007/s10897-017-0090-y.

Article  PubMed  PubMed Central  Google Scholar 

Idos GE, Kurian AW, Ricker C, Sturgeon D, Culver JO, Kingham KE, Koff R, Chun NM, Rowe-Teeter C, Lebensohn AP, Levonian P, Lowstuter K, Partynski K, Hong C, Mills MA, Petrovchich I, Ma CS, Hartman A, Allen B, Wenstrup RJ, Gruber SB. Multicenter prospective cohort study of the diagnostic yield and patient experience of multiplex gene panel testing for hereditary cancer risk. JCO Precis Oncol. 2019. https://doi.org/10.1002/cncr.32572.

Article  PubMed  PubMed Central  Google Scholar 

Bradbury AR, Egleston BL, Patrick-Miller LJ, Rustgi N, Brandt A, Brower J, DiGiovanni L, Fetzer D, Berkelbach C, Long JM, Powers J, Stopfer JE, Domchek SM. Longitudinal outcomes with cancer multigene panel testing in previously tested BRCA1/2 negative patients. Clin Genet. 2020;97(4):601–9. https://doi.org/10.1111/cge.13716.

CAS  Article  PubMed  Google Scholar 

Brédart A, Kop JL, Dick J, Cano A, De Pauw A, Anota A, Brunet J, Devilee P, Stoppa-Lyonnet D, Schmutzler R, Dolbeault S. Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study. BMJ Open. 2019;9(9):e029926. https://doi.org/10.1136/bmjopen-2019-029926.

Article  PubMed  PubMed Central  Google Scholar 

Elsayegh N, Webster RD, Gutierrez Barrera AM, Lin H, Kuerer HM, Litton JK, Bedrosian I, Arun BK. Contralateral prophylactic mastectomy rate and predictive factors among patients with breast cancer who underwent multigene panel testing for hereditary cancer. Cancer Med. 2018;7(6):2718–26. https://doi.org/10.1002/cam4.1519.

Article  PubMed  PubMed Central  Google Scholar 

Kurian AW, Li Y, Hamilton AS, Ward KC, Hawley ST, Morrow M, McLeod MC, Jagsi R, Katz SJ. Gaps in incorporating germline genetic testing into treatment decision-making for early-stage breast cancer. J Clin Oncol. 2017;35(20):2232–9. https://doi.org/10.1200/JCO.2016.71.6480.

Article  PubMed  PubMed Central  Google Scholar 

Pederson HJ, Gopalakrishnan D, Noss R, Yanda C, Eng C, Grobmyer SR. Impact of multigene panel testing on surgical decision making in breast cancer patients. J Am Coll Surg. 2018;226(4):560–5. https://doi.org/10.1016/j.jamcollsurg.2017.12.037.

Article  PubMed  Google Scholar 

Bunnell AE, Garby CA, Pearson EJ, Walker SA, Panos LE, Blum JL. The clinical utility of next generation sequencing results in a community-based hereditary cancer risk program. J Genet Couns. 2017;26(1):105–12. https://doi.org/10.1007/s10897-016-9985-2.

CAS  Article  PubMed  Google Scholar 

Murphy AE, Hussain L, Ho C, Dunki-Jacobs E, Lee D, Tameron A, Huelsman K, Rice C, Wexelman BA. Preoperative panel testing for hereditary cancer syndromes does not significantly impact time to surgery for newly diagnosed breast cancer patients compared with BRCA1/2 testing. Ann Surg Oncol. 2017;24(10):3055–9. https://doi.org/10.1245/s10434-017-5957-5.

Article  PubMed  Google Scholar 

Chang J, Seng S, Yoo J, Equivel P, Lum SS. Clinical management of patients at risk for hereditary breast cancer with variants of uncertain significance in the era of multigene panel testing. Ann Surg Oncol. 2019;26(10):3389–96. https://doi.org/10.1245/s10434-019-07595-230Frostetal.,2018.

Article  PubMed  Google Scholar 

Kurian AW, Ward KC, Hamilton AS, Deapen DM, Abrahamse P, Bondarenko I, Li Y, Hawley ST, Morrow M, Jagsi R, Katz SJ. Uptake, results, and outcomes of germline multiple-gene sequencing after diagnosis of breast cancer. JAMA Oncol. 2018;4(8):1066–72. https://doi.org/10.1001/jamaoncol.2018.0644.

Article  PubMed  PubMed Central  Google Scholar 

Frost AS, Toaff M, Biagi T, Stark E, McHenry A, Kaltman R. Effects of cancer genetic panel testing on at-risk individuals. Obstet Gynecol. 2018;131(6):1103–10. https://doi.org/10.1097/AOG.0000000000002531.

Article  PubMed  Google Scholar 

Vysotskaia V, Kaseniit KE, Bucheit L, Ready K, Price K, Johansen Taber K. Clinical utility of hereditary cancer panel testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations. Cancer. 2020;126(3):549–58. https://doi.org/10.1002/cncr.32572.

CAS  Article  PubMed  Google Scholar 

Caskey R, Singletary B, Ayre K, Parker C, Krontiras H, Lancaster RB. Expectations of surveillance for non-BRCA gene mutation carriers at increased risk for breast cancer. J Surg Re

留言 (0)

沒有登入
gif