1. |
Garutti M, Foffano L, Mazzeo R, et al. Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool. Genes (Basel). 2023;14(5):1025. doi: 10.3390/genes14051025. PMID: 37239385.
| |
2. |
National Society of Genetic Counselors’ Definition Task Force; Resta R, Biesecker BB, et al. A new definition of Genetic Counseling: National Society of Genetic Counselors’ Task Force report. J Genet Couns. 2006;15(2):77-83. doi: 10.1007/s10897-005-9014-3. PMID: 16761103.
| |
3. |
Eijzenga W, Hahn DE, Aaronson NK, et al. Specific psychosocial issues of individuals undergoing genetic counseling for cancer – a literature review. J Genet Couns. 2014;23(2):133-46. doi: 10.1007/s10897-013-9649-4. PMID: 23996531.
| |
4. |
Taber JM, Aspinwall LG, Stump TK, et al. Genetic test reporting enhances understanding of risk information and acceptance of prevention recommendations compared to family history-based counseling alone. J Behav Med. 2015;38(5):740-53. doi: 10.1007/s10865-015-9648-z. PMID: 26178773.
| |
5. |
Лаптиев С.А., Корженевская М.А., Соколенко А.П. и др. Медико-генетическое консультирование при наследственных формах РМЖ и рака яичников // Ученые записки СПбГМУ им. ИП Павлова. – 2018. – Т. 25. – №. 2. – С. 7–18. DOI: 10.24884/1607-4181-2018-25-2-7-18.
| |
6. |
Медико-генетическое консультирование. Перечень показаний для проведения медико-генетического консультирования [Электронный ресурс]. URL: https://rnioi.ru/o-nas/innovatsionnye-tekhnologii/geneticheskaya-konsultatsiya/ (дата обращения: 03.02.2024).
| |
7. |
Семенова А.Б., Бяхова М.М., Галкин В.Н., и др. Возможности молекулярно-генетических методов для эффективного выявления наследственных форм онкологических заболеваний среди лиц с повышенными рисками их развития. Здоровье мегаполиса. 2023;4(2):30-40.
| |
8. |
Willis AM, Smith SK, Meiser B, et al. Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review. Clin Genet. 2017;92(2):121-133. doi: 10.1111/cge.12868. PMID: 27643459.
| |
9. |
Dean M, Tezak AL, Johnson S, et al. Sharing genetic test results with family members of BRCA, PALB2, CHEK2, and ATM carriers. Patient EducCouns. 2021;104(4):720-725. doi: 10.1016/j.pec.2020.12.019. PMID: 33455826.
| |
10. |
Metcalfe KA, Price MA, Mansfield C, et al. Predictors of long-term cancer-related distress among female BRCA1 and BRCA2 mutation carriers without a cancer diagnosis: an international analysis. Br J Cancer. 2020;123(2):268-274. doi: 10.1038/s41416-020-0861-3. PMID: 32393849.
| |
11. |
Тарабрина Н.В. Шкала оценки влияния травматического события (ImpactofEventScale-R-IES-R) // Практикум по психологии посттравматического стресса. – 2001. – С. 125-139.
| |
12. |
Фирсова Л.Д., Огарев В.В., Канатбек кызы А. и др. Психологическое сопровождение носителей мутаций в генах, ассоциированных с наследственным раком молочной железы // Качественная клиническая практика. – 2023. – №. 1. – С. 47-54. doi:10.37489/2588-0519-2023-1-47-55
| |
13. |
Hirschberg AM, Chan-Smutko G, Pirl WF. Psychiatric implications of cancer genetic testing. Cancer. 2015;121(3):341-60. doi: 10.1002/cncr.28879. PMID: 25234846.
| |
14. |
Aspinwall LG, Taber JM, Leaf SL, et al. Genetic testing for hereditary melanoma and pancreatic cancer: a longitudinal study of psychological outcome. Psychooncology. 2013;22(2):276-89. doi: 10.1002/pon.2080. PMID: 23382133.
| |
15. |
Wood E, Church J, O’Malley M, et al. Mental Health Symptoms in Patients With Familial Adenomatous Polyposis: An Observational Study. Dis Colon Rectum. 2019;62(10):1204-1211. doi: 10.1097/DCR.0000000000001459. PMID: 31490829.
| |
16. |
Lodder L, Frets PG, Trijsburg RW, et al. Psychological impact of receiving a BRCA1/BRCA2 test result. Am J Med Genet. 2001;98(1):15-24. PMID: 11426450.
| |
17. |
Beran TM, Stanton AL, Kwan L, et al. The trajectory of psychological impact in BRCA1/2 genetic testing: does time heal? Ann Behav Med. 2008;36(2):107-16. doi: 10.1007/s12160-008-9060-9. PMID: 18787910.
| |
18. |
Oliveira FFB, de Barros Silva PG, de Sant’Ana RO, et al. How does genetic testing influence anxiety, depression, and quality of life? A hereditary breast and ovarian cancer syndrome suspects trial. Support Care Cancer. 2021;29(7):3521-3530. doi: 10.1007/s00520-020-05867-2. PMID: 33155091.
| |
19. |
Roussi P, Sherman KA, Miller SM, et al. Identification of cognitive profiles among women considering BRCA1/2 testing through the utilisation of cluster analytic techniques. Psychol Health. 2011;26(10):1327-43. doi: 10.1080/08870446.2010.521938. PMID: 21756124.
| |
20. |
Ho SM, Ho JW, Bonanno GA, et al. Hopefulness predicts resilience after hereditary colorectal cancer genetic testing: a prospective outcome trajectories study. BMC Cancer. 2010;10:279. doi: 10.1186/1471-2407-10-279. PMID: 20537192.
| |
21. |
Bosch N, Junyent N, Gadea N, et al. What factors may influence psychological well being at three months and one year post BRCA genetic result disclosure? Breast. 2012;21(6):755-60. doi: 10.1016/j.breast.2012.02.004. PMID: 22381151.
| |
22. |
Hamilton R, Williams JK, Bowers BJ, Calzone K. Life trajectories, genetic testing, and risk reduction decisions in 18-39 year old women at risk for hereditary breast and ovarian cancer. J Genet Couns. 2009;18(2):147-59. doi: 10.1007/s10897-008-9200-1. PMID: 18979190.
| |
23. |
Eijzenga W, Bleiker EM, Hahn DE, et al. Psychosocial aspects of hereditary cancer (PAHC) questionnaire: development and testing of a screening questionnaire for use in clinical cancer genetics. Psychooncology. 2014;23(8):862-9. doi: 10.1002/pon.3485. PMID: 24443031.
| |
24. |
Инструмент оценки психосоциального риска, ассоциированного с генетическим тестированием – анкета (Genetic Psychosocial Risk Instrument (GPRI)); [Электронный ресурс]. URL: https://bmjopen.bmj.com/content/suppl/2013/03/12/bmjopen-2012-002227.DC1/bmjopen-2012-002227supp_appendix.pdf. Дата обращения: 22.03.2024.
| |
25. |
Esplen MJ, Cappelli M, Wong J, et al. Development and validation of a brief screening instrument for psychosocial risk associated with genetic testing: a pan-Canadian cohort study. BMJ Open. 2013;3(3):e002227. doi: 10.1136/bmjopen-2012-002227. PMID: 23485718.
| |
26. |
Eijzenga W, Aaronson NK, Hahn DE, et al. Effect of routine assessment of specific psychosocial problems on personalized communication, counselors’ awareness, and distress levels in cancer genetic counseling practice: a randomized controlled trial. J ClinOncol. 2014;32(27):2998-3004. doi: 10.1200/JCO.2014.55.4576. PMID: 25049325.
| |
27. |
Phelps C, Bennett P, Jones H, et al. The development of a cancer genetic-specific measure of coping: the GRACE. Psychooncology. 2010;19(8):847-54. doi: 10.1002/pon.1629. PMID: 19823974.
| |
28. |
Phelps C, Bennett P, Hood K, et al. A self-help coping intervention can reduce anxiety and avoidant health behaviours whilst waiting for cancer genetic risk information: results of a phase III randomised trial. Psychooncology. 2013;22(4):837-44. doi: 10.1002/pon.3072. PMID: 22473731.
| |
29. |
Aspinwall LG, Taber JM, Leaf SL, et al. Genetic testing for hereditary melanoma and pancreatic cancer: a longitudinal study of psychological outcome. Psychooncology. 2013;22(2):276-89. doi: 10.1002/pon.2080. PMID: 23382133.
| |
30. |
Medendorp NM, van Maarschalkerweerd PEA, Murugesu L, et al. The impact of communicating uncertain test results in cancer genetic counseling: A systematic mixed studies review. Patient EducCouns. 2020;103(9):1692-1708. doi: 10.1016/j.pec.2020.03.015. PMID: 32278626.
| |
31. |
Vos J, Otten W, van Asperen C, et al. The counsellees’ view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life. Psychooncology. 2008;17(8):822-30. doi: 10.1002/pon.1311. PMID: 18157792.
| |
32. |
Aspinwall, L.G., Taber, J.M., Kohlmann, W., Bautista, L.B. (2022). Psychological aspects of hereditary cancer risk counseling and genetic testing: Toward an expanded and more equitable view. In J. L. Steel & B. I. Carr(Eds.), Psychological aspects of cancer: A guide to emotional and psychological consequences of cancer, their causes, and their management (2nd ed., pp. 359–398). Springer Nature Switzerland AG. https://doi.org/10.1007/978-3-030-85702-8_22
| |
33. |
Schienda J, Stopfer J. Cancer Genetic Counseling-Current Practice and Future Challenges. Cold Spring HarbPerspect Med. 2020;10(6):a036541. doi: 10.1101/cshperspect.a036541. PMID: 31548230.
| |
34. |
Genetic / Familial high-risk assessment: breast, ovarian, and pancreatic. The National Comprehensive Cancer Network (NCCN) Guideline, v.3.2023. [Электронный ресурс]. URL: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf. Дата обращения: 22.03.2024.
| |
35. |
Grynberg M, Raad J, Comtet M, et al. Fertility preservation in BRCA-mutated women: when and how? Future Oncol. 2018;14(5):483-490. doi: 10.2217/fon-2017-0415. PMID: 29327596.
| |
36. |
Titus S, Li F, Stobezki R, et al. Impairment of BRCA1-related DNA double-strand break repair leads to ovarian aging in mice and humans. SciTransl Med. 2013;5(172):172ra21. doi: 10.1126/scitranslmed.3004925. PMID: 23408054.
| |
37. |
Finch A, Valentini A, Greenblatt E, et al. Frequency of premature menopause in women who carry a BRCA1 or BRCA2 mutation. FertilSteril. 2013;99(6):1724-8. doi: 10.1016/j.fertnstert.2013.01.109. PMID: 23414920.
| |
38. |
Kutluk Oktay, Volkan Turan, Shiny Titus, et al. BRCA Mutations, DNA Repair Deficiency, and Ovarian Aging. BiolReprod. 2015; 93(3): 67. doi: 10.1095/biolreprod.115.132290
| |
39. |
Turan V, Oktay K. BRCA-related ATM-mediated DNA double-strand break repair and ovarian aging. Hum Reprod Update. 2020;26(1):43-57. doi: 10.1093/humupd/dmz043. PMID: 31822904.
| |
40. |
Porcu E, Cillo GM, Cipriani L, et al. Impact of BRCA1 and BRCA2 mutations on ovarian reserve and fertility preservation outcomes in young women with breast cancer. J Assist Reprod Genet 2020;37:709–15. doi:10.1007/s10815-019-01658-9
| |
41. |
Son K-A , Lee D-Y , Choi D. Association of BRCA Mutations and Anti-müllerian Hormone Level in Young Breast Cancer Patients. Front Endocrinol 2019;10:235. doi:10.3389/fendo.2019.00235
| |
42. |
Grynberg M, Dagher Hayeck B, Papanikolaou EG, et al . BRCA1/2 gene mutations do not affect the capacity of oocytes from breast cancer candidates for fertility preservation to mature in vitro. Hum Reprod 2019;34:374–9.doi:10.1093/humrep/dey358
| |
43. |
Lambertini M, Goldrat O, Ferreira AR, et al . Reproductive potential and performance of fertility preservation strategies in BRCA-mutated breast cancer patients. Ann Oncol 2018;29:237–43.doi:10.1093/annonc/mdx639
| |
44. |
Ponce J , Fernandez-Gonzalez S , Calvo I , et al . Assessment of ovarian reserve and reproductive outcomes in BRCA1 or BRCA2 mutation carriers. Int J Gynecol Cancer 2020;30:83–8.doi:10.1136/ijgc-2019-000626
| |
45. |
Oktay KH, Bedoschi G, Goldfarb SB, et al . Increased chemotherapy-induced ovarian reserve loss in women with germline BRCA mutations due to oocyte deoxyribonucleic acid double strand break repair deficiency. FertilSteril 2020;113:1251–60.doi:10.1016/j.fertnstert.2020.01.033
| |
46. |
Lambertini M, Olympios N, Lequesne J, et al . Impact of Taxanes, Endocrine Therapy, and Deleterious Germline BRCA Mutations on Anti-müllerian Hormone Levels in Early Breast Cancer Patients Treated With Anthracycline- and Cyclophosphamide-Based Chemotherapy. Front Oncol 2019;9:575. doi:10.3389/fonc.2019.00575
| |
47. |
Johnson L, Sammel MD, Domchek S, et al . Antimüllerian hormone levels are lower in BRCA2 mutation carriers. FertilSteril 2017;107:1256–65.doi:10.1016/j.fertnstert.2017.03.018
| |
48. |
Giordano S, Garrett-Mayer E, Mittal N, et al. Association of BRCA1 Mutations with Impaired Ovarian Reserve: Connection Between Infertility and Breast/Ovarian Cancer Risk. J Adolesc Young Adult Oncol. 2016;5(4):337-343. doi: 10.1089/jayao.2016.0009. PMID: 27513691.
| |
49. |
Gunnala V, Fields J, Irani M, et al. BRCA carriers have similar reproductive potential at baseline to noncarriers: comparisons in cancer and cancer-free cohorts undergoing fertility preservation. FertilSteril 2019;111:363–71.doi:10.1016/j.fertnstert.2018.10.014
| |
50. |
Perri T, Lifshitz D, Sadetzki S, et al . Fertility treatments and invasive epithelial ovarian cancer risk in Jewish Israeli BRCA1 or BRCA2 mutation carriers. FertilSteril 2015;103:1305–12.doi:10.1016/j.fertnstert.2015.02.011
| |
51. |
Gronwald J, Glass K, Rosen B, et al . Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation. FertilSteril 2016;105:781–5.doi:10.1016/j.fertnstert.2015.11.034
| |
52. |
Derks-Smeets IAP, Schrijver LH, de Die-Smulders CEM, et al. Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers. Br J Cancer. 2018;119(3):357-363. doi: 10.1038/s41416-018-0139-1. PMID: 29937543.
| |
53. |
Nancy A. Melville. Breast and Gynecological Cancer Risk Is Minimal With IVF. Medscape Medical News, published July 12, 2018;
| |
54. |
ESHRE 2018: Large Population Study Does Not Find Causal Link Between Assisted Reproduction and Ovarian Cancer Risk. The ASCO Post, published July 12, 2018
| |
55. |
Shapira M, Raanani H, Feldman B, et al . BRCA mutation carriers show normal ovarian response in in vitro fertilization cycles. FertilSteril 2015;104:1162–7.doi:10.1016/j.fertnstert. 2015.07.1162
| |
56. |
Klyukina L.A., Sosnova E.A, Ishchenko A.A. Carcinogenic potential of ovulation stimulation in BRCA1/2 gene mutation carriers in assisted reproductive technology programs. Russian Open Medical Journal. 2022;11(1)
| |
57. |
Oktay K, Buyuk E, Libertella N, et al. Fertility preservation in breast cancer patients: a prospective controlled comparison of ovarian stimulation with tamoxifen and letrozole for embryo cryopreservation. J Clin Oncol. 2005;23(19):4347-53. doi: 10.1200/JCO.2005.05.037. PMID: 15824416.
| |
58. |
Абакушина Е.В., Отой Т., Каприн А.Д. Возможности восстановления репродуктивной функции онкологических больных за счет трансплантации криоконсервированной ткани яичника // Гены и клетки. – 2015. – Т. 10. – №. 1. – С. 18–27.
| |
59. |
Quehenberger F, Vasen HFA, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 2005;42:491–6. doi:10.1136/jmg.2004.024299
| |
60. |
Møller P, Seppälä TT, Bernstein I, et al . Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database. Gut 2018;67:1306–16. doi:10.1136/gutjnl-2017-314057
| |
61. |
Nakamura K, Banno K, Yanokura M, et al. Features of ovarian cancer in Lynch syndrome (review). MolClinOncol 2014;2:909–16. doi:10.3892/mco.2014.397
| |
62. |
Vietri MT, D’Elia G, Caliendo G, et al. Hereditary Prostate Cancer: Genes Related, Target Therapy and Prevention. Int J Mol Sci. 2021;22(7):3753. doi: 10.3390/ijms22073753. PMID: 33916521.
| |
63. |
Heidegger, I.; Tsaur, I.; Borgmann, H. et al. EAU-YAU Prostate Cancer Working Party. Hereditary prostate cancer—Primetime for genetic testing? Cancer Treat. Rev. 2019, 81, 101927
| |
64. |
Rahner N, Steinke V. Hereditary cancer syndromes. Dtsch Arztebl Int. 2008;105(41):706-714. doi:10.3238/arztebl.2008.0706.
| |
65. |
Баранова Е.Е., Бодунова Н.А., Воронцова М.В. и др. Наследственные опухолевые синдромы: современная парадигма. Проблемы Эндокринологии. 2020;66(4):24-34. doi:10.14341/probl12366
| |
66. |
Азимова А.З., Дьяконова М.С. Наследственные формы онкологических заболеваний // Научный электронный журнал» Профессиональное образование Арктических регионов». – 2023. – №. 3. – С. 27–31.
| |
67. |
Михайленко Д.С., Горбань Н.А., Залетаев Д.В. Наследственные онкологические синдромы с повышенным риском развития рака почки. Онкоурология 2023;19(3):133–45. doi: 10.17650/1726-9776-2023- 19-3-133-145
| |
68. |
Cancer and my genes. Схема наследования мутации. [Электронный ресурс]. URL: https://learn.colontown.org/topic/cancer-and-my-genes/ 2 (дата обращения: 04.03.2024).
| |
69. |
Нелюбина Л.А. Рак молочной железы: cтратегии оценки и снижения риска заболевания // Вестник российских университетов. Математика. – 2014. – Т. 19. – №. 6. – С. 1919-1927.
| |
70. |
Avanesyan AA, Sokolenko AP, Ivantsov AO, et al. Gastric Cancer in BRCA1 Germline Mutation Carriers: Results of Endoscopic Screening and Molecular Analysis of Tumor Tissues // Pathobiology. 2020;87(6):367–374. doi:10.1159/000511323
| |
71. |
Brown GR, Simon M, Wentling C, et al. A review of inherited cancer susceptibility syndromes // JAAPA. 2020;33(12):10–16. doi:10.1097/01.JAA.0000721648.46099.2c
| |
72. |
Имянитов Е.Н., Филипенко М.Л., Кекеева Т.В., Демидова И.А. Практические аспекты тестирования наследственных мутаций в генах BRCA1/2: позиция Межрегиональной организации молекулярных генетиков в онкологии и онкогематологии // Вопросы онкологии. – 2022. – Т. 68. – №. 3. – С. 260–266.
| |
73. |
Кубышкин А.В., Салиева Г.М., Фомочкина И.И., Водолажский Д.И. Молекулярно-генетическое тестирование при раке яичников // Тихоокеанский медицинский журнал. – 2022. – №. 4 (90). – С. 11–18. doi: 10.34215/1609-1175-2022-4-11-18
| |
74. |
Morganti S, Tarantino P, Ferraro E, et al. Next Generation Sequencing (NGS): a revolutionary technology in pharma‑ cogenomics and personalized medicine in cancer. AdvExpMedBiol. 2019;1168:9-30. doi:10.1007/978-3030-24100-1_2
| |
75. |
Имянитов Е.Н. Молекулярная диагностика в онкологии: новые тенденции // Медицинский академический журнал. – 2019. – Т. 19. – № 4. – С. 25–32. doi:10.17816/MAJ19281
| |
76. |
Nagahashi M, Shimada Y, Ichikawa H, et al. Next generation sequencing-based gene panel tests for the management of solid tumors // Cancer Sci. 2019;110(1):6-15. doi:10.1111/cas.13837
| |
77. |
Загороднев К.A., Суспицын Е.Н., Соколенко А.П. и др. Использование таргетной мультигенной панели для поиска генетических детерминант наследственного РМЖ у российских пациенток // Вопросы онкологии. – 2019. – Т. 65. – №. 3. – С. 349–356.
| |
78. |
Hoyer J, Vasileiou G, Uebe S, et al. Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria. BMC Cancer. 2018;18(1):926. doi: 10.1186/s12885-018-4821-8. PMID: 30257646.
| |