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Наследственные формы злокачественных новообразований молочных желез: прогноз, скрининг и профилактика. Обзор литературы
Наследственные формы злокачественных новообразований молочных желез: прогноз, скрининг и профилактика. Обзор литературы
Султанбаев А.В., Колядина И.В., Гилязова И.Р., Насретдинов А.Ф., Мусин Ш.И., Султанбаева Н.И., Меньшиков К.В. Наследственные формы злокачественных новообразований молочных желез: прогноз, скрининг и профилактика. Обзор литературы. Современная Онкология. 2024;26(1):48–55.
DOI: 10.26442/18151434.2024.1.202656
© ООО «КОНСИЛИУМ МЕДИКУМ», 2024 г.
DOI: 10.26442/18151434.2024.1.202656
© ООО «КОНСИЛИУМ МЕДИКУМ», 2024 г.
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Аннотация
Носители герминальных мутаций подвергаются высокому риску развития злокачественных новообразований, для которых характерны ранний возраст манифестации, агрессивное течение и высокий риск рецидива. Активное внедрение медико-генетического тестирования среди таргетной популяции потенциальных носителей герминальных мутаций позволит оптимизировать программы первичной профилактики, скрининга и лечебных подходов. Первичная профилактика (удаление органов-мишеней) при носительстве BRCA1/2‑мутации должна учитывать соотношение пользы и риска, а разработка программ скрининга – ранний возраст манифестации заболевания, высокую плотность молочных желез у молодых женщин и преобладание агрессивных биологических подтипов заболевания, что требует более интенсифицированных программ скрининга в данной популяции. Патогенетическая адъювантная терапия олапарибом не только значимо снижает риск рецидива и смерти у больных ранним BRCA-ассоциированным раком молочной железы, но и может помочь предотвратить развитие вторых злокачественных новообразований.
Ключевые слова: рак молочной железы, герминальные мутации генов BRCA1/2, скрининг рака молочной железы, профилактическая мастэктомия, первичная профилактика рака молочной железы, адъювантная терапия олапарибом
Keywords: breast cancer, germline mutations of BRCA1/2 genes, breast cancer screening, preventive mastectomy, primary prevention of breast cancer, adjuvant olaparib therapy
Ключевые слова: рак молочной железы, герминальные мутации генов BRCA1/2, скрининг рака молочной железы, профилактическая мастэктомия, первичная профилактика рака молочной железы, адъювантная терапия олапарибом
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Keywords: breast cancer, germline mutations of BRCA1/2 genes, breast cancer screening, preventive mastectomy, primary prevention of breast cancer, adjuvant olaparib therapy
Полный текст
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12. Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer. 1994;73(3):643‑51. DOI:10.1002/1097‑0142(19940201)73:3<643:: aid-cncr2820730323>3.0.co;2‑5
13. Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998;62(3):676‑89. DOI:10.1086/301749
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16. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25(11):1329‑33. DOI:10.1200/JCO.2006.09.1066
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18. Peto J, Mack TM. High constant incidence in twins and other relatives of women with breast cancer. Nat Genet. 2000;26(4):411‑4. DOI:10.1038/82533
19. Panchal S, Bordeleau L, Poll A, et al. Does family history predict the age at onset of new breast cancers in BRCA1 and BRCA2 mutation-positive families? Clin Genet. 2010;77(3):273‑9. DOI:10.1111/j.1399‑0004.2009.01328.x
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21. Hu C, Hart SN, Gnanaolivu R, et al. A Population-Based Study of Genes Previously Implicated in Breast Cancer. N Engl J Med. 2021;384(5):440‑51. DOI:10.1056/NEJMoa2005936
22. Norquist BM, Harrell MI, Brady MF, et al. Inherited Mutations in Women With Ovarian Carcinoma. JAMA Oncol. 2016;2(4):482‑90. DOI:10.1001/jamaoncol.2015.5495
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10. Melchor L, Benítez J. The complex genetic landscape of familial breast cancer. Hum Genet. 2013;132(8):845‑63. DOI:10.1007/s00439‑013‑1299‑y
11. Gabai-Kapara E, Lahad A, Kaufman B, et al. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci USA. 2014;111(39):14205‑10. DOI:10.1073/pnas.1415979111
12. Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer. 1994;73(3):643‑51. DOI:10.1002/1097‑0142(19940201)73:3<643:: aid-cncr2820730323>3.0.co;2‑5
13. Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998;62(3):676‑89. DOI:10.1086/301749
14. Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117‑30. DOI:10.1086/375033. Erratum in: Am J Hum Genet. 2003;73(3):709.
15. Milne RL, Osorio A, Cajal TR, et al. The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain. Clin Cancer Res. 2008;14(9):2861‑9. DOI:10.1158/1078‑0432.CCR‑07‑4436
16. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25(11):1329‑33. DOI:10.1200/JCO.2006.09.1066
17. Brandt A, Lorenzo Bermejo J, Sundquist J, Hemminki K. Breast cancer risk in women who fulfill high-risk criteria: at what age should surveillance start? Breast Cancer Res Treat. 2010;121(1):133‑41. DOI:10.1007/s10549‑009‑0486‑y
18. Peto J, Mack TM. High constant incidence in twins and other relatives of women with breast cancer. Nat Genet. 2000;26(4):411‑4. DOI:10.1038/82533
19. Panchal S, Bordeleau L, Poll A, et al. Does family history predict the age at onset of new breast cancers in BRCA1 and BRCA2 mutation-positive families? Clin Genet. 2010;77(3):273‑9. DOI:10.1111/j.1399‑0004.2009.01328.x
20. Breast Cancer Association Consortium; Dorling L, Carvalho S, Allen J, et al. Breast Cancer Risk Genes – Association Analysis in More than 113,000 Women. N Engl J Med. 2021;384(5):428‑39. DOI:10.1056/NEJMoa1913948
21. Hu C, Hart SN, Gnanaolivu R, et al. A Population-Based Study of Genes Previously Implicated in Breast Cancer. N Engl J Med. 2021;384(5):440‑51. DOI:10.1056/NEJMoa2005936
22. Norquist BM, Harrell MI, Brady MF, et al. Inherited Mutations in Women With Ovarian Carcinoma. JAMA Oncol. 2016;2(4):482‑90. DOI:10.1001/jamaoncol.2015.5495
23. Lee CH, Dershaw DD, Kopans D, et al. Breast cancer screening with imaging: recommendations from the Society of Breast Imaging and the ACR on the use of mammography, breast MRI, breast ultrasound, and other technologies for the detection of clinically occult breast cancer. J Am Coll Radiol. 2010;7(1):18‑27. DOI:10.1016/j.jacr.2009.09.022
24. Mann RM, Kuhl CK, Kinkel K, Boetes C. Breast MRI: guidelines from the European Society of Breast Imaging. Eur Radiol. 2008;18(7):1307‑18. DOI:10.1007/s00330‑008‑0863‑7
25. Lee K, Seifert BA, Shimelis H, et al. Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels. Genet Med. 2019;21(7):1497‑506. DOI:10.1038/s41436‑018‑0361‑5
26. Hettipathirana T, Macdonald C, Xie J, et al. The value of clinical breast examination in a breast cancer surveillance program for women with germline BRCA1 or BRCA2 mutations. Med J Aust. 2021;215(10):460‑4. DOI:10.5694/mja2.51226
27. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Version 3.2023 – February 13, 2023. Available at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf. Accessed: 10.10.2023.
28. Paluch-Shimon S, Cardoso F, Sessa C, et al; ESMO Guidelines Committee. Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening. Ann Oncol. 2016;27(Suppl. 5):v103‑10. DOI:10.1093/annonc/mdw327. Erratum in: Ann Oncol.
2017;28(Suppl. 4):iv167‑8.
29. Boyd NF, Guo H, Martin LJ, et al. Mammographic density and the risk and detection of breast cancer. N Engl J Med. 2007;356(3):227‑36. DOI:10.1056/NEJMoa062790
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Авторы
А.В. Султанбаев*1,2, И.В. Колядина3,4, И.Р. Гилязова2, А.Ф. Насретдинов1, Ш.И. Мусин1, Н.И. Султанбаева1, К.В. Меньшиков1,2
1ГАУЗ «Республиканский клинический онкологический диспансер» Минздрава Республики Башкортостан, Уфа, Россия;
2ФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава России, Уфа, Россия;
3ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, Москва, Россия;
4ФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии им. акад. В.И. Кулакова» Минздрава России, Москва, Россия
*rkodrb@yandex.ru
1Republican Clinical Oncology Dispensary, Ufa, Russia;
2Bashkir State Medical University, Ufa, Russia;
3Russian Medical Academy of Continuous Professional Education, Moscow, Russia;
4Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia
*rkodrb@yandex.ru
1ГАУЗ «Республиканский клинический онкологический диспансер» Минздрава Республики Башкортостан, Уфа, Россия;
2ФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава России, Уфа, Россия;
3ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, Москва, Россия;
4ФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии им. акад. В.И. Кулакова» Минздрава России, Москва, Россия
*rkodrb@yandex.ru
________________________________________________
1Republican Clinical Oncology Dispensary, Ufa, Russia;
2Bashkir State Medical University, Ufa, Russia;
3Russian Medical Academy of Continuous Professional Education, Moscow, Russia;
4Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia
*rkodrb@yandex.ru
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