دورية أكاديمية
Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives.
| العنوان: | Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives. |
|---|---|
| المؤلفون: | Vlaming M; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Heidelberglaan 100, CX Utrecht, 3584, The Netherlands., Ausems MGEM; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Heidelberglaan 100, CX Utrecht, 3584, The Netherlands., Schijven G; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Heidelberglaan 100, CX Utrecht, 3584, The Netherlands., van Oort IM; Department of Urology, Radboud University Medical Center, Geert Grooteplein Zuid 10, GA Nijmegen, 6525, The Netherlands., Kets CM; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, GA Nijmegen, 6525, The Netherlands., Komdeur FL; Department of Human Genetics, Amsterdam University Medical Centers, Meibergdreef 9, AZ Amsterdam, 1105, The Netherlands., van der Kolk LE; Department of Clinical Genetics, the Netherlands Cancer Institute, Plesmanlaan 121, CX Amsterdam, 1066, The Netherlands., Oldenburg RA; Department of Clinical Genetics, Erasmus Medical Center, Dr. Molewaterplein 40, GD Rotterdam, 3015, The Netherlands., Sijmons RH; Department of Genetics, University Medical Center Groningen, Hanzeplein 1, GZ Groningen, 9713, The Netherlands., Kiemeney LALM; Department of Urology, Radboud University Medical Center, Geert Grooteplein Zuid 10, GA Nijmegen, 6525, The Netherlands.; Department for Health Evidence, Radboud University Medical Center, Geert Grooteplein Zuid 10, GA Nijmegen, 6525, The Netherlands., Bleiker EMA; Department of Clinical Genetics, the Netherlands Cancer Institute, Plesmanlaan 121, CX Amsterdam, 1066, The Netherlands. e.m.a.bleiker@lumc.nl.; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Plesmanlaan 121, CX Amsterdam, 1066, The Netherlands. e.m.a.bleiker@lumc.nl.; Department of Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, ZA Leiden, 2333, The Netherlands. e.m.a.bleiker@lumc.nl. |
| المصدر: | Familial cancer [Fam Cancer] 2024 Jun; Vol. 23 (2), pp. 165-175. Date of Electronic Publication: 2024 May 09. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Dordrecht : Springer Original Publication: Dordrecht ; Boston : Kluwer Academic Publishers, c2001- |
| مواضيع طبية MeSH: | Prostatic Neoplasms*/genetics , Prostatic Neoplasms*/psychology , Prostatic Neoplasms*/pathology , Genetic Testing* , Germ-Line Mutation* , Genetic Predisposition to Disease*/psychology, Humans ; Male ; Middle Aged ; Aged ; BRCA2 Protein/genetics ; Disclosure ; Fanconi Anemia Complementation Group N Protein/genetics ; BRCA1 Protein/genetics ; Checkpoint Kinase 2/genetics ; Breast Neoplasms/genetics ; Breast Neoplasms/psychology ; Breast Neoplasms/pathology ; Family/psychology ; Female ; Ataxia Telangiectasia Mutated Proteins/genetics ; Adult |
| مستخلص: | Some patients with metastatic prostate cancer carry a pathogenic germline variant (PV) in a gene, that is mainly associated with an increased risk of breast cancer in women. If they test positive for such a PV, prostate cancer patients are encouraged to disclose the genetic test result to relatives who are at risk in case the carrier status changes the relatives' medical care. Our study aimed to investigate how men who learned they carry a PV in BRCA1, BRCA2, PALB2, CHEK2 or ATM disclosed their carrier status to at-risk relatives and to assess the possible psychological burden for the carrier and their perception of the burden for relatives. In total, 23 men with metastatic prostate cancer carrying a PV completed the IRI questionnaire about family communication; 14 also participated in a semi-structured interview. Patients felt highly confident in discussing the genetic test result with relatives. The diagnosis of prostate cancer was experienced as a burden, whereas being informed about genetic testing results did in most cases not add to this burden. Two patients encountered negative experiences with family communication, as they considered the genetic test result to be more urgent than their relatives. This mixed-methods study shows that metastatic prostate cancer patients with a PV in genes mainly associated with increased risk of breast cancer feel well-equipped to communicate about this predisposition in their families. Carriers felt motivated to disclose their genetic test result to relatives. Most of them indicated that the disclosure was not experienced as a psychological burden. (© 2024. The Author(s).) |
| References: | Sung H et al (2021) Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 71(3):209–249. (PMID: 10.3322/caac.2166033538338) Buzzoni C et al (2015) Metastatic prostate cancer incidence and prostate-specific antigen testing: new insights from the European randomized study of screening for prostate cancer. Eur Urol 68(5):885–890. (PMID: 25791513498286910.1016/j.eururo.2015.02.042) Hamdy FC et al (2016) 10-year outcomes after monitoring, surgery, or radiotherapy for localized prostate cancer. N Engl J Med 375(15):1415–1424. (PMID: 2762613610.1056/NEJMoa1606220) Abdi B et al (2022) DNA damage repair gene germline profiling for metastatic prostate cancer patients of different ancestries. Prostate 82(12):1196–1201. (PMID: 3565256010.1002/pros.24374) Abida W et al (2017) Prospective genomic profiling of prostate cancer across disease states reveals germline and somatic alterations that may affect clinical decision making. JCO Precis Oncol 1:1–16. (PMID: 10.1200/PO.17.00029) Boyle JL et al (2020) Pathogenic germline DNA repair gene and HOXB13 mutations in men with metastatic prostate cancer. JCO Precis Oncol 4:139–151. (PMID: 10.1200/PO.19.00284) Castro E et al (2019) PROREPAIR-B: a prospective cohort study of the impact of germline DNA repair mutations on the outcomes of patients with metastatic castration-resistant prostate cancer. J Clin Oncol 37(6):490–503. (PMID: 3062503910.1200/JCO.18.00358) Giri VN et al (2017) Inherited mutations in men undergoing multigene panel testing for prostate cancer: emerging implications for personalized prostate cancer genetic evaluation. JCO Precis Oncol 1:1–17. (PMID: 10.1200/PO.16.00039) Greenberg SE et al (2021) Clinical germline testing results of men with prostate cancer: patient-level factors and implications of NCCN guideline expansion. JCO Precis Oncol 5:533–542. (PMID: 10.1200/PO.20.00432) Hart SN et al (2016) Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer. BMJ Open 6(4):e010332. (PMID: 27084275483867910.1136/bmjopen-2015-010332) Isaacsson Velho P et al (2018) Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer. Prostate 78(5):401–407. (PMID: 2936834110.1002/pros.23484) Na R et al (2017) Germline mutations in ATM and BRCA1/2 distinguish risk for lethal and indolent prostate cancer and are associated with early age at death. Eur Urol 71(5):740–747. (PMID: 2798935410.1016/j.eururo.2016.11.033) Nguyen-Dumont T et al (2021) Rare germline pathogenic variants identified by multigene panel testing and the risk of aggressive prostate cancer. Cancers 13(7):1495. (PMID: 33804961803666210.3390/cancers13071495) Nicolosi P et al (2019) Prevalence of germline variants in prostate cancer and implications for current genetic testing guidelines. JAMA Oncol 5(4):523–528. (PMID: 30730552645911210.1001/jamaoncol.2018.6760) Petrovics G et al (2019) Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population. Prostate Cancer Prostatic Dis 22(3):406–410. (PMID: 3054205310.1038/s41391-018-0114-1) Priestley P et al (2019) Pan-cancer whole-genome analyses of metastatic solid tumours. Nature 575(7781):210–216. (PMID: 31645765687249110.1038/s41586-019-1689-y) Pritchard CC et al (2016) Inherited DNA-repair gene mutations in men with metastatic prostate cancer. N Engl J Med 375(5):443–453. (PMID: 27433846498661610.1056/NEJMoa1603144) Robinson D et al (2015) Integrative clinical genomics of advanced prostate cancer. Cell 161(5):1215–1228. (PMID: 26000489448460210.1016/j.cell.2015.05.001) Yadav S et al (2019) Contribution of inherited DNA-repair gene mutations to hormone-sensitive and castrate-resistant metastatic prostate cancer and implications for clinical outcome. JCO Precis Oncol 3:1–12. (PMID: 10.1200/PO.19.00067) Bychkovsky BL et al (2022) Differences in cancer phenotypes among frequent CHEK2 Variants and implications for clinical care—checking CHEK2. JAMA Oncol 8(11):1598–1606. (PMID: 36136322950180310.1001/jamaoncol.2022.4071) Hall MJ et al (2021) Germline pathogenic variants in the ataxia telangiectasia mutated (ATM) gene are associated with high and moderate risks for multiple cancers germline ATM PVs are associated with multiple cancer risks. Cancer Prev Res 14(4):433–440. (PMID: 10.1158/1940-6207.CAPR-20-0448) Li S et al (2022) Cancer risks associated with BRCA1 and BRCA2 pathogenic variants. J Clin Oncol 40(14):1529. (PMID: 35077220908443210.1200/JCO.21.02112) Yang X et al (2020) Cancer risks associated with germline PALB2 pathogenic variants: an international study of 524 families. J Clin Oncol 38(7):674. (PMID: 3184138310.1200/JCO.19.01907) Campos FAB et al (2021) Genetic landscape of male breast cancer. Cancers 13(14):3535. (PMID: 34298749830589410.3390/cancers13143535) Carbine NE et al (2018) Risk-reducing mastectomy for the prevention of primary breast cancer. Cochrane Database Syst Rev 4(4):CD002748. (PMID: 29620792) Ludwig KK et al (2016) Risk reduction and survival benefit of prophylactic surgery in BRCA mutation carriers, a systematic review. The American Journal of Surgery 212(4):660–669. (PMID: 2764997410.1016/j.amjsurg.2016.06.010) Wood ME, McKinnon W, Garber J (2020) Risk for breast cancer and management of unaffected individuals with non-BRCA hereditary breast cancer. Breast J 26(8):1528–1534. (PMID: 3274108010.1111/tbj.13969) Page EC et al (2019) Interim results from the IMPACT study: evidence for prostate-specific antigen screening in BRCA2 mutation carriers. Eur Urol 76(6):831–842. (PMID: 31537406688078110.1016/j.eururo.2019.08.019) de Bono JS et al (2021) Talazoparib monotherapy in metastatic castration-resistant prostate cancer with DNA repair alterations (TALAPRO-1): an open-label, phase 2 trial. Lancet Oncol 22(9):1250–1264. (PMID: 3438838610.1016/S1470-2045(21)00376-4) Fizazi K et al (2023) Rucaparib or physician’s choice in metastatic prostate cancer. N Engl J Med 388(8):719–732. (PMID: 367958911006417210.1056/NEJMoa2214676) Hussain M et al (2020) Survival with olaparib in metastatic castration-resistant prostate cancer. N Engl J Med 383(24):2345–2357. (PMID: 3295517410.1056/NEJMoa2022485) Dutch Clinical Genetics Society (2019) Richtlijn Informeren van familieleden bij erfelijke aandoeningen. Retrieved from https://www.vkgn.org/files/5911/Richtlijn%20informeren%20van%20familieleden%20bij%20erfelijke%20aandoeningen.pdf . Dheensa S, Lucassen A, Fenwick A (2018) Limitations and pitfalls of using family letters to communicate genetic risk: a qualitative study with patients and healthcare professionals. J Genet Couns 27:689–701. (PMID: 2909427210.1007/s10897-017-0164-x) Finn CM et al (2023) Motivation and family communication in hereditary prostate cancer genetic testing: survey of patients from a US tertiary medical center. J Genet Couns 32(1):79–89. (PMID: 3594180510.1002/jgc4.1624) Leader AE et al (2022) Insight into how patients with prostate cancer interpret and communicate genetic test results: implications for families. J Community Genet 13(6):547–556. (PMID: 35869324968195010.1007/s12687-022-00603-1) Vlaming M et al (2022) Mainstream germline genetic testing in men with metastatic prostate cancer: design and protocol for a multicenter observational study. BMC Cancer 22(1):1365. (PMID: 36581909980156810.1186/s12885-022-10429-2) Kroll T, Neri M (2009) Designs for mixed methods research. Mixed methods research for nursing and the health sciences. Wiley, Hoboken, pp 31–49. Kuper A, Lingard L, Levinson W (2008) Critically appraising qualitative research. BMJ 337:a1035–a1035. (PMID: 1868772610.1136/bmj.a1035) Standaard Onderwijsindeling (2021) Available from: https://www.cbs.nl/nl-nl/onze-diensten/methoden/classificaties/onderwijs-en-beroepen/standaard-onderwijsindeling--soi--/standaard-onderwijsindeling-2021 . de Geus E et al (2015) Development of the informing relatives inventory (IRI): assessing index patients’ knowledge, motivation and self-efficacy regarding the disclosure of hereditary cancer risk information to relatives. Int J Behav Med 22:551–560. (PMID: 2551591310.1007/s12529-014-9455-x) Claes E et al (2003) Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients. Am J Med Genet A 116(1):11–19. (PMID: 10.1002/ajmg.a.10868) Braun V, Clarke V (2006) Using thematic analysis in psychology. Qual Res Psychol 3(2):77–101. (PMID: 10.1191/1478088706qp063oa) Tong A, Sainsbury P, Craig J (2007) Consolidated criteria for reporting qualitative research (COREQ): a 32-item checklist for interviews and focus groups. Int J Qual Health Care 19(6):349–357. (PMID: 1787293710.1093/intqhc/mzm042) Menko FH et al (2019) The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice. Fam Cancer 18:127–135. (PMID: 2984688010.1007/s10689-018-0089-z) Menko FH et al (2023) Does a proactive procedure lead to a higher uptake of predictive testing in families with a pathogenic BRCA1/BRCA2 variant? A family cancer clinic evaluation. J Genet Couns. https://doi.org/10.1002/jgc4.1767. (PMID: 10.1002/jgc4.176737605508) Piovesana A, Senior G (2018) How small is big: sample size and skewness. Assessment 25(6):793–800. (PMID: 2765597110.1177/1073191116669784) Bradbury AR et al (2016) Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing. Genet Med 18(1):25–33. (PMID: 2583495010.1038/gim.2015.19) Kroneman M et al (2016) Netherlands: health system review. Health Syst Transit 18(2):1–240. (PMID: 27929376) Van Der Heide I et al (2013) The relationship between health, education, and health literacy: results from the Dutch adult literacy and life skills survey. J Health Commun 18(sup1):172–184. (PMID: 24093354381461810.1080/10810730.2013.825668) Harrison C et al (2023) Family communication and results disclosure after germline sequencing: a mixed methods study. Patient Educ Couns 114:107800. (PMID: 3721076510.1016/j.pec.2023.107800) Sanz J et al (2010) Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain. Fam Cancer 9:297–304. (PMID: 2009113010.1007/s10689-009-9313-1) |
| معلومات مُعتمدة: | 12601 KWF Kankerbestrijding |
| فهرسة مساهمة: | Keywords: Breast cancer; Family communication; Genetic testing; Metastatic prostate cancer; Psychosocial |
| المشرفين على المادة: | 0 (BRCA2 Protein) 0 (PALB2 protein, human) 0 (BRCA2 protein, human) 0 (Fanconi Anemia Complementation Group N Protein) 0 (BRCA1 Protein) 0 (BRCA1 protein, human) EC 2.7.11.1 (CHEK2 protein, human) EC 2.7.1.11 (Checkpoint Kinase 2) EC 2.7.11.1 (ATM protein, human) EC 2.7.11.1 (Ataxia Telangiectasia Mutated Proteins) |
| تواريخ الأحداث: | Date Created: 20240509 Date Completed: 20240605 Latest Revision: 20240709 |
| رمز التحديث: | 20240710 |
| مُعرف محوري في PubMed: | PMC11153271 |
| DOI: | 10.1007/s10689-024-00377-0 |
| PMID: | 38722431 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1573-7292 |
|---|---|
| DOI: | 10.1007/s10689-024-00377-0 |