دورية أكاديمية
Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome
| العنوان: | Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome |
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| المؤلفون: | Ibrahim H. Shah, Erin E. Salo-Mullen, Kimberly A. Amoroso, David Kelsen, Zsofia K. Stadler, Jada G. Hamilton |
| المصدر: | Hereditary Cancer in Clinical Practice, Vol 20, Iss 1, Pp 1-13 (2022) |
| بيانات النشر: | BMC, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens LCC:Genetics |
| مصطلحات موضوعية: | Cancer, Inherited cancer syndrome, Reproduction, Preimplantation genetic testing, Risk, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470 |
| الوصف: | Abstract Background Hereditary Diffuse Gastric Cancer (HDGC) syndrome is an autosomal dominant hereditary cancer predisposition associated with germline pathogenic/likely pathogenic variants in the CDH1 gene. Identifying early stage HDGC is difficult, and prophylactic measures can be effective in preventing incidence. Preimplantation Genetic Testing (PGT) can provide information about CDH1 variant status, HDGC risk, and limit familial transmission of CDH1 variants. To date, however, little is known about the attitudes of individuals with CDH1 variants towards PGT. Methods Given that little is known about the reproductive attitudes of individuals with HDGC, we recruited participants with CDH1 variants from a familial gastric cancer registry and administered a cross-sectional survey with open- and closed-ended response items. We assessed attitudes regarding PGT and the effect of HDGC on quality of life. Results Participants (n = 21) were predominantly partnered (61.9%), had a personal cancer history (71.4%), and had biological children (71.4%). Interest in learning about PGT was high; 66.7% of participants were interested in PGT and 90.5% approved of healthcare providers discussing PGT with individuals with CDH1 variants. Attitudes regarding personal use were varied. Among all participants, 35% would not, 25% were uncertain, and 40% would use PGT. Personal philosophy and preferences for family and reproduction were key factors related to PGT attitudes. HDGC had moderate effects on participants’ quality of life, including social relationships, health behaviors, and emotional experiences including worry about cancer risk and guilt regarding familial implications. Conclusion PGT was identified by participants as acceptable for use in a variety of contexts and benefits of reproductive counseling involving PGT may extend beyond CDH1 carriers to family members’ reproductive behaviors. Dispositions towards PGT are governed by personal philosophy or belief systems. These findings can help guide providers counseling individuals with CDH1 variants. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1897-4287 |
| العلاقة: | https://doaj.org/toc/1897-4287Test |
| DOI: | 10.1186/s13053-022-00239-9 |
| الوصول الحر: | https://doaj.org/article/3df962fecde84c6889a85a5aec70e76aTest |
| رقم الانضمام: | edsdoj.3df962fecde84c6889a85a5aec70e76a |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 18974287 |
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| DOI: | 10.1186/s13053-022-00239-9 |