phgenomicsФармакогенетика и фармакогеномикаPharmacogenetics and Pharmacogenomics2588-05272686-8849LLC "Izdatelstvo OKI"10.37489/2588-0527-2023-1-33-45phgenomics-273Research ArticleАКТУАЛЬНЫЕ ОБЗОРЫCURRENT REVIEWМолекулярно-генетические особенности наследственных форм рака молочной железыMolecular genetic features of hereditary forms of breast cancer (systematic review)https://orcid.org/0000-0002-1048-5158СеребряковаА. В.SerebryakovaA. V.

м. н. с. Центральной научно-исследовательской лаборатории

junior research assistant Central Research Laboratory

any_serebrycova03061996@mail.ruhttps://orcid.org/0000-0003-3911-1245АлиевК. А.AliyevK. A.

к. м. н., доцент кафедры

Dr. Sci. (Med.), Associate Professor of the OncologyDepartment

kazimaliev1986@gmail.comhttps://orcid.org/0000-0002-1862-6816СорокинаЛ. Е.SorokinaL. E.

ординатор

Resident

leya.sorokina@mail.ruhttps://orcid.org/0000-0002-0312-9972ГрицкевичО. Ю.GritskevichO. Yu.

м. н. с. Центральной научно-исследовательской лаборатории

junior research assistant Central Research Laboratory

sudmedma@mail.ruhttps://orcid.org/0000-0001-8216-4196ЗяблицкаяЕ. Ю.ZyablitskayaE. Yu.

д. м. н., доцент, в. н. с. Центральной научно-исследовательской лаборатории

Dr. Sci. (Med.), Professor, leading researcher Central Research Laboratory

evgu79@mail.ruИнститут «Медицинская академия имени С.И. Георгиевского» ФГАОУ ВО «КФУ им. В.И. Вернадского»РоссияInstitute «Medical Academy named after S.I. Georgievsky» V.I. Vernadsky Crimean Federal UniversityRussian FederationИнститут «Медицинская академия имени С.И. Георгиевского» ФГАОУ ВО «КФУ им. В.И. Вернадского»; ФГБУ «ГНЦ Института иммунологии и аллергологии» ФМБА РоссииРоссияInstitute «Medical Academy named after S.I. Georgievsky» V.I. Vernadsky Crimean Federal University; National Research Center ― Institute of Immunology Federal Medical-Biological Agency of RussiaRussian Federation202319072023013345Copyright © Серебрякова А.В., Алиев К.А., Сорокина Л.Е., Грицкевич О.Ю., Зяблицкая Е.Ю., 20232023Серебрякова А.В., Алиев К.А., Сорокина Л.Е., Грицкевич О.Ю., Зяблицкая Е.Ю.Serebryakova A.V., Aliyev K.A., Sorokina L.E., Gritskevich O.Y., Zyablitskaya E.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.pharmacogenetics-pharmacogenomics.ru/jour/article/view/273

Интерес к проблеме наследственных форм рака молочной железы обусловлен не только ростом числа заболевших, но и имеющимися особенностями в отношении фенотипических характеристик данных опухолей, особенностей течения, чувствительности к различным вариантам проводимой терапии. К сожалению, существующие к настоящему времени данные клинических исследований не дают полного представления об особенностях течения различных форм наследственно обусловленного рака молочной железы, чувствительности к терапевтическим агентам, адекватных объёмах обследования и профилактических мероприятий. В связи с этим возникает необходимость проведения проспективных рандомизированных исследований для оптимизации программ лечения, скрининга и профилактики. Стремительное развитие технологий в области молекулярной биологии позволило идентифицировать около 20 генов, наличие мутаций в которых обуславливает повышенный риск развития рака молочной железы. Целью данного обзора стало обобщение имеющихся данных о роли структурных перестроек генов различной степени пенетрантности, ассоциированных с наследственной предрасположенностью к раку молочной железы. Механизм развития наследственных форм рака данной локализации связан с перестройками в генах репарации ДНК разной степени пенетрантности. Выявление этих мутаций имеет стратегическое значение для ранней диагностики и перехода от эмпирического к целенаправленному персонализированному подходу в лечении разных типов рака. Понимание патогенеза заболевания на молекулярном уровне позволяет совершить прорыв в области фармакологических инноваций с целью создания новых селективных классов препаратов в эффективной таргетной терапии.

The interest in the problem of hereditary forms of breast cancer is due not only to the increase in the number of patients, but also to the existing features in relation to the phenotypic characteristics of these tumors, course features, and sensitivity to various therapy options. Unfortunately, the data of clinical trials that exist to date do not provide a complete picture of the course of various forms of hereditary breast cancer, sensitivity to therapeutic agents, adequate examination volumes and preventive measures. In this regard, there is a need to conduct prospective randomized trials to optimize treatment, screening and prevention programs. The rapid development of technologies in the field of molecular biology has made it possible to identify about 20 genes, the presence of mutations in which causes an increased risk of developing breast cancer. The aim of this review was to summarize the available data on the role of structural rearrangements of genes of varying degrees of penetrance associated with hereditary predisposition to breast cancer. The mechanism of hereditary breast cancer forms development is associated with rearrangements in DNA repair genes of varying degrees of penetrance. The identification of these mutations is of strategic importance for early diagnosis and the transition from an empirical to a targeted personalized approach in the treatment of various types of cancer. Understanding the pathogenesis of the disease at the molecular level makes it possible to make a breakthrough in the field of pharmacological innovations in order to create new selective classes of drugs in effective targeted therapy.

наследственный рак молочной железымутацииhereditary breast cancermutationsРабота профинансирована государственным заданием FZEG-2023-0009 «Изучение гетерогенности микроокружения опухоли как фактора её агрессивности и резистентности к терапии», по соглашению Минобрнауки России и ФГАОУ ВО «КФУ им. В.И. Вернадского» № 075-01400-23-00 от 29.12.22, тема № 123030700011-4 от 07.03.2023ReferencesЗлокачественные новообразования в России в 2020 г. (заболеваемость и смертность) /под ред. А.Д. Каприна, В.В. Старинского, А.О. Шахзадовой. М.: МНИОИ им. П.А. Герцена — филиал ФГБУ «НМИЦ радиологии» Минздрава России, 2021. [Malignant tumors in Russiain 2020 (morbidity and mortality) /Ed by. AD Kaprina, VV Starinskogo, GV Petrovoi. Moscow: P.A. Herzen MSIOI — filial of NMRC of radiology Ministry of Public Health of the Russian Federation, 2021 (In Russ.)].Злокачественные новообразования в России в 2020 г. (заболеваемость и смертность) /под ред. А.Д. Каприна, В.В. Старинского, А.О. Шахзадовой. М.: МНИОИ им. П.А. Герцена — филиал ФГБУ «НМИЦ радиологии» Минздрава России, 2021. [Malignant tumors in Russiain 2020 (morbidity and mortality) /Ed by. AD Kaprina, VV Starinskogo, GV Petrovoi. Moscow: P.A. Herzen MSIOI — filial of NMRC of radiology Ministry of Public Health of the Russian Federation, 2021 (In Russ.)].World Health Organization. The Global Cancer Observatory (включая базу данных GLOBOCAN 2018). Geneva: WHO; 2021.World Health Organization. The Global Cancer Observatory (включая базу данных GLOBOCAN 2018). Geneva: WHO; 2021.Alberts B, Johnson A, Lewis J, et al. Molecular Biology of the Cell. NY: Garland Science; 2012. p. 1205-1268.Alberts B, Johnson A, Lewis J, et al. Molecular Biology of the Cell. NY: Garland Science; 2012. p. 1205-1268.Бит-Сава Е.М., Белогурова М.Б. Наследственный рак молочной железы. Сибирский онкологический журнал. 2013;55(1):75–81. [Bit-Sava EM, Belogurova NB. Hereditary breast cancer. Siberian journal of oncology. 2013;55(1):75–81. (In Russ.)].Бит-Сава Е.М., Белогурова М.Б. Наследственный рак молочной железы. Сибирский онкологический журнал. 2013;55(1):75–81. [Bit-Sava EM, Belogurova NB. Hereditary breast cancer. Siberian journal of oncology. 2013;55(1):75–81. (In Russ.)].European Society for Medical Oncology. BRCA in breast cancer: ESMO Clinical Recommendations. 2018.European Society for Medical Oncology. BRCA in breast cancer: ESMO Clinical Recommendations. 2018.Duijf PHG, Nanayakkara D, Nones K, et al. Mechanisms of Genomic Instability in Breast Cancer. Trends Mol Med. 2019;25(7):595–611. DOI: 10.1016/j.molmed.2019.04.004.Duijf PHG, Nanayakkara D, Nones K, et al. Mechanisms of Genomic Instability in Breast Cancer. Trends Mol Med. 2019;25(7):595–611. DOI: 10.1016/j.molmed.2019.04.004.Angeli D, Salvi S, Tedaldi G. Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test? Int J Mol Sci. 2020 Feb 8;21(3):1128. DOI: 10.3390/ijms21031128.Angeli D, Salvi S, Tedaldi G. Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test? Int J Mol Sci. 2020 Feb 8;21(3):1128. DOI: 10.3390/ijms21031128.Имянитов Е.Н. Молекулярная диагностика в онкологии: новые тенденции. Медицинский академический журнал. 2019;19(4):25–32. [Imyanitov EN. Molecular diagnostics in oncology: new trends. Meditsinskiy akademichesiy zhurnal = Medical Academic Journal.2019;19(4):25–32. (In Russ.)]. DOI: 10.17816/MAJ19281.Имянитов Е.Н. Молекулярная диагностика в онкологии: новые тенденции. Медицинский академический журнал. 2019;19(4):25–32. [Imyanitov EN. Molecular diagnostics in oncology: new trends. Meditsinskiy akademichesiy zhurnal = Medical Academic Journal.2019;19(4):25–32. (In Russ.)]. DOI: 10.17816/MAJ19281.Zimmer K, Kocher F, Puccini A, Seeber A. Targeting BRCA and DNA Damage Repair Genes in GI Cancers: Pathophysiology and Clinical Perspectives. Front Oncol. 2021 Oct11;11:662055. DOI: 10.3389/fonc.2021.662055.Zimmer K, Kocher F, Puccini A, Seeber A. Targeting BRCA and DNA Damage Repair Genes in GI Cancers: Pathophysiology and Clinical Perspectives. Front Oncol. 2021 Oct11;11:662055. DOI: 10.3389/fonc.2021.662055.Welcsh PL, King MC. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum Mol Genet. 2001;10(7):705–713. DOI: 10.1093/hmg/10.7.705.Welcsh PL, King MC. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum Mol Genet. 2001;10(7):705–713. DOI: 10.1093/hmg/10.7.705.Бабушкина Н.П., Постригань А.Е., Кучер А.Н. Вовлеченность генов белков BRСA1-ассоциированного комплекса наблюдения за геномом (BASC) в развитие многофакторной патологии. Молекулярная биология. 2021;55(2):318–337 [Babushkina NP, Postrigan’ AE, Kucher AN. Vovlechennost’ genov belkov BRSA1-associirovannogo kompleksa nabljudenija za genomom (BASC) v razvitie mnogofaktornoj patologii. Molekuljarnaja biologija. 2021;55(2):318–337 (In Russ.)]. DOI: 10.31857/S0026898421020038.Бабушкина Н.П., Постригань А.Е., Кучер А.Н. Вовлеченность генов белков BRСA1-ассоциированного комплекса наблюдения за геномом (BASC) в развитие многофакторной патологии. Молекулярная биология. 2021;55(2):318–337 [Babushkina NP, Postrigan’ AE, Kucher AN. Vovlechennost’ genov belkov BRSA1-associirovannogo kompleksa nabljudenija za genomom (BASC) v razvitie mnogofaktornoj patologii. Molekuljarnaja biologija. 2021;55(2):318–337 (In Russ.)]. DOI: 10.31857/S0026898421020038.Gorrini C, Baniasadi PS, Harris IS, et al. BRCA1 interacts with Nrf2 to regulate antioxidant signaling and cell survival. J Exp Med. 2013; 210(8):1529–1544. DOI:10.1084/jem.20121337.Gorrini C, Baniasadi PS, Harris IS, et al. BRCA1 interacts with Nrf2 to regulate antioxidant signaling and cell survival. J Exp Med. 2013; 210(8):1529–1544. DOI:10.1084/jem.20121337.Wang L, Di LJ. BRCA1 and estrogen/estrogen receptor in breast cancer: where they interact? Int J Biol Sci. 2014;10(5):566–575. DOI: 10.7150/ijbs.8579.Wang L, Di LJ. BRCA1 and estrogen/estrogen receptor in breast cancer: where they interact? Int J Biol Sci. 2014;10(5):566–575. DOI: 10.7150/ijbs.8579.Breast Cancer Information Core [Internet]. National Human Genome Research Institute. URL: https://research.nhgri.nih.gov/bic/. [cited 2022 Dec 20].Breast Cancer Information Core [Internet]. National Human Genome Research Institute. URL: https://research.nhgri.nih.gov/bic/. [cited 2022 Dec 20].Barnes DR, Rookus MA, Mc Guffog L, et al. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet Med. 2020;22(10):1653–1666. DOI: 10.1038/s41436-020-0862-x.Barnes DR, Rookus MA, Mc Guffog L, et al. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet Med. 2020;22(10):1653–1666. DOI: 10.1038/s41436-020-0862-x.Рассказова Е.А. Тройной негативный рак молочной железы. Онкология. Журнал им. П.А. Герцена. 2014;3(5):65–70. [Rasskazova EA. Triple-negative breast cancer. P.A. Herzen Journal of Oncology. 2014;3(5): 65–70. (In Russ.)].Рассказова Е.А. Тройной негативный рак молочной железы. Онкология. Журнал им. П.А. Герцена. 2014;3(5):65–70. [Rasskazova EA. Triple-negative breast cancer. P.A. Herzen Journal of Oncology. 2014;3(5): 65–70. (In Russ.)].Anders CK, Winer EP, Ford JM, et al. Poly(ADP-Ribose) polymerase inhibition: «targeted» therapy for triple-negative breast cancer. Clin Cancer Res. 2010;16(19):4702–10. DOI: 10.1158/1078-0432.CCR-10-0939.Anders CK, Winer EP, Ford JM, et al. Poly(ADP-Ribose) polymerase inhibition: «targeted» therapy for triple-negative breast cancer. Clin Cancer Res. 2010;16(19):4702–10. DOI: 10.1158/1078-0432.CCR-10-0939.Stoppa-Lyonnet D, Ansquer Y, Dreyfus H, et al. Familial invasive breast cancers: worse outcome related to BRCA1 mutations. J Clin Oncol. 2000;18(24):4053–9. DOI: 10.1200/JCO.2000.18.24.4053.Stoppa-Lyonnet D, Ansquer Y, Dreyfus H, et al. Familial invasive breast cancers: worse outcome related to BRCA1 mutations. J Clin Oncol. 2000;18(24):4053–9. DOI: 10.1200/JCO.2000.18.24.4053.Lee EH, Park SK, Park B, et al. Effect of BRCA1/2 mutation on short-term and long-term breast cancer survival: a systematic review and meta-analysis. Breast Cancer Res Treat. 2010;122(1):11–25. DOI: 10.1007/s10549-010-0859-2.Lee EH, Park SK, Park B, et al. Effect of BRCA1/2 mutation on short-term and long-term breast cancer survival: a systematic review and meta-analysis. Breast Cancer Res Treat. 2010;122(1):11–25. DOI: 10.1007/s10549-010-0859-2.Janavičius R. Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. EPMA J. 2010;1(3):397–412. DOI: 10.1007/s13167-010-0037-y.Janavičius R. Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. EPMA J. 2010;1(3):397–412. DOI: 10.1007/s13167-010-0037-y.Батенева Е.И., Мещеряков А.А., Любченко Л.Н. и др. Частота одиннадцати мутаций генов BRCA1 и BRCA2 в неотобранной выборке больных раком молочной железы россиянок. Уральский медицинский журнал. 2011;3(81):69–73. [Bateneva EI, Meshcheryakov AA, Lyubchenko LN et al. Chastota odinnadcati mutacij genov BRCA1 i BRCA2 v neotobrannoj vyborke bol’nyh rakom molochnoj zhelezy rossiyanok. Ural’skij medicinskij zhurnal. 2011;3(81):69–73. (In Russ.)].Батенева Е.И., Мещеряков А.А., Любченко Л.Н. и др. Частота одиннадцати мутаций генов BRCA1 и BRCA2 в неотобранной выборке больных раком молочной железы россиянок. Уральский медицинский журнал. 2011;3(81):69–73. [Bateneva EI, Meshcheryakov AA, Lyubchenko LN et al. Chastota odinnadcati mutacij genov BRCA1 i BRCA2 v neotobrannoj vyborke bol’nyh rakom molochnoj zhelezy rossiyanok. Ural’skij medicinskij zhurnal. 2011;3(81):69–73. (In Russ.)].Грудинина Н.А., Голубков В.И., Тихомирова О.С. и др. Преобладание широко распространённых мутаций в гене BRCA1 у больных семейными формами рака молочной железы Санкт-Петербурга. Генетика. 2005;41(3):405. [Grudinina NA, Golubkov VI, Tihomirova OS et al. Preobladanie shirokorasprostranennyh mutacij v gene BRCA1 u bol’nyh semejnymi formami raka molochnoj zhelezy Sankt-Peterburga. Genetika. 2005;41(3):405. (In Russ.)].Грудинина Н.А., Голубков В.И., Тихомирова О.С. и др. Преобладание широко распространённых мутаций в гене BRCA1 у больных семейными формами рака молочной железы Санкт-Петербурга. Генетика. 2005;41(3):405. [Grudinina NA, Golubkov VI, Tihomirova OS et al. Preobladanie shirokorasprostranennyh mutacij v gene BRCA1 u bol’nyh semejnymi formami raka molochnoj zhelezy Sankt-Peterburga. Genetika. 2005;41(3):405. (In Russ.)].Федорова О.Е., Любченко Л.Н., Паяниди Ю.Г. и др. Использование биочипов при изучении распространенных мутаций в генах BRCA 1/2 и CHEK2 у больных органоспецифическим раком яичников и первично множественными злокачественными новообразованиями с поражением яичников (российская популяция). Молекулярная биология. 2007;41:37–42. [Fedorova OE, Ljubchenko LN, Pajanidi Ju Getal. Ispol’zovanie biochipov pri izuchenii rasprostranennyh mutacij v genah BRCA 1/2 i CHEK2 u bol’nyh organospecificheskim rakom jaichnikov i pervichnomnozhestvennymi zlokachestvennymi novoobrazovanijami s porazheniem jaichnikov (rossijskaja populjacija). Molekuljarnaja biologija. 2007;41:37–42. (In Russ.)].Федорова О.Е., Любченко Л.Н., Паяниди Ю.Г. и др. Использование биочипов при изучении распространенных мутаций в генах BRCA 1/2 и CHEK2 у больных органоспецифическим раком яичников и первично множественными злокачественными новообразованиями с поражением яичников (российская популяция). Молекулярная биология. 2007;41:37–42. [Fedorova OE, Ljubchenko LN, Pajanidi Ju Getal. Ispol’zovanie biochipov pri izuchenii rasprostranennyh mutacij v genah BRCA 1/2 i CHEK2 u bol’nyh organospecificheskim rakom jaichnikov i pervichnomnozhestvennymi zlokachestvennymi novoobrazovanijami s porazheniem jaichnikov (rossijskaja populjacija). Molekuljarnaja biologija. 2007;41:37–42. (In Russ.)].Часовникова О.Б., Митрофанов Д.В., Демченко Д.О. и др. BRCA 1 и BRCA 2 мутации у больных раком молочной железы в сибирском регионе. Сибирский онкологический журнал. 2010;5:32–5. [Chasovnikova OB, Mitrofanov DV, Demchenko DO et al. BRCA 1 i BRCA 2 mutacii u bol’nyh rakom molochnoj zhelezy v sibirskom regione. Sibirskij onkologicheskij zhurnal. 2010;5:32–5. (In Russ.)].Часовникова О.Б., Митрофанов Д.В., Демченко Д.О. и др. BRCA 1 и BRCA 2 мутации у больных раком молочной железы в сибирском регионе. Сибирский онкологический журнал. 2010;5:32–5. [Chasovnikova OB, Mitrofanov DV, Demchenko DO et al. BRCA 1 i BRCA 2 mutacii u bol’nyh rakom molochnoj zhelezy v sibirskom regione. Sibirskij onkologicheskij zhurnal. 2010;5:32–5. (In Russ.)].Федорова С.А., Хуснутдинова Э.К. Генофонд народов Республики Саха (Якутия): структура, происхождение, генетические взаимоотношения. Генетика. 2010;46(9):1244–1246. [Fedorova SA, Khusnutdinova EK. Gene Pools of Peoples from the Republic Sakha (Yakutia): Structure, Origin, Genetic Relationships. Genetika. 2010;46(9):1244–1246. (In Russ.)].Федорова С.А., Хуснутдинова Э.К. Генофонд народов Республики Саха (Якутия): структура, происхождение, генетические взаимоотношения. Генетика. 2010;46(9):1244–1246. [Fedorova SA, Khusnutdinova EK. Gene Pools of Peoples from the Republic Sakha (Yakutia): Structure, Origin, Genetic Relationships. Genetika. 2010;46(9):1244–1246. (In Russ.)].Копнин Б.П. Опухолевые супрессоры и мутаторные гены. В кн.: Канцерогенез. Под ред. Д.Г. Заридзе. Москва: Медицина, 2004. c.125–156 [Kopnin BP. Opuholevye supressory i mutatornye geny. V kn.: Kancerogenez. Ed by. DG Zaridze. Moscow: Medicina, 2004. (In Russ.)].Копнин Б.П. Опухолевые супрессоры и мутаторные гены. В кн.: Канцерогенез. Под ред. Д.Г. Заридзе. Москва: Медицина, 2004. c.125–156 [Kopnin BP. Opuholevye supressory i mutatornye geny. V kn.: Kancerogenez. Ed by. DG Zaridze. Moscow: Medicina, 2004. (In Russ.)].Loizidou MA, Hadjisavvas A, Tanteles GA, et al. Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report. Oncol Lett. 2016;11(1):471–473. DOI: 10.3892/ol.2015.3852.Loizidou MA, Hadjisavvas A, Tanteles GA, et al. Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report. Oncol Lett. 2016;11(1):471–473. DOI: 10.3892/ol.2015.3852.Карпухин А.В., Логинова А.Н., Хомич Е.В., Поспехова Н.И. Наследственная предрасположенность к раку молочной железы. Медицинская генетика. 2002;1(6):254–261. [Karpuhin AV, Loginova AN, Homich EV, Pospehova NI. Nasledstvennaja predraspolozhennost’ k raku molochnoj zhelezy. Medicinskaja genetika. 2002;1(6):254–261 (In Russ.)].Карпухин А.В., Логинова А.Н., Хомич Е.В., Поспехова Н.И. Наследственная предрасположенность к раку молочной железы. Медицинская генетика. 2002;1(6):254–261. [Karpuhin AV, Loginova AN, Homich EV, Pospehova NI. Nasledstvennaja predraspolozhennost’ k raku molochnoj zhelezy. Medicinskaja genetika. 2002;1(6):254–261 (In Russ.)].Lakhani SR, Van De Vijver MJ, Jacquemier J, et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol. 2002;20(9):2310–8. DOI:10.1200/JCO.2002.09.023.Lakhani SR, Van De Vijver MJ, Jacquemier J, et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol. 2002;20(9):2310–8. DOI:10.1200/JCO.2002.09.023.Shanmughapriya S, Nachiappan V, Natarajaseenivasan K. BRCA1 and BRCA2 mutations in the ovarian cancer population across race and ethnicity: special reference to Asia. Oncology. 2013;84(4):226–232. DOI: 10.1159/000346593.Shanmughapriya S, Nachiappan V, Natarajaseenivasan K. BRCA1 and BRCA2 mutations in the ovarian cancer population across race and ethnicity: special reference to Asia. Oncology. 2013;84(4):226–232. DOI: 10.1159/000346593.Любченко Л.Н., Портной С.М., Поспехова Н.И. и др. Клинико-молекулярные аспекты наследственного рака молочной железы. Молекул мед. 2007;(1):8–9. [Ljubchenko LN, Portnoj SM, Pospehova NI et al. Kliniko-molekuljarnye aspekty nasledstvennogo raka molochnoj zhelezy. Molekul med. 2007;(1):8–9. (In Russ.)].Любченко Л.Н., Портной С.М., Поспехова Н.И. и др. Клинико-молекулярные аспекты наследственного рака молочной железы. Молекул мед. 2007;(1):8–9. [Ljubchenko LN, Portnoj SM, Pospehova NI et al. Kliniko-molekuljarnye aspekty nasledstvennogo raka molochnoj zhelezy. Molekul med. 2007;(1):8–9. (In Russ.)].Matlashewski G, Lamb P, Pim D, et al. Isolation and characterization of a human p53 cDNA clone: expression of the human p53 gene. EMBO J. 1984;3(13):3257–62. DOI: 10.1002/j.1460-2075.1984.tb02287.x.Matlashewski G, Lamb P, Pim D, et al. Isolation and characterization of a human p53 cDNA clone: expression of the human p53 gene. EMBO J. 1984;3(13):3257–62. DOI: 10.1002/j.1460-2075.1984.tb02287.x.Ventura A, Kirsch DG, McLaughlin ME, et al. Restoration of p53 function leads to tumor regression in vivo. Nature. 2007 Feb 8;445(7128):661–5. DOI: 10.1038/nature05541.Ventura A, Kirsch DG, McLaughlin ME, et al. Restoration of p53 function leads to tumor regression in vivo. Nature. 2007 Feb 8;445(7128):661–5. DOI: 10.1038/nature05541.Olivier M, Petitjean A, Teague J, et al. Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: proposed guidelines for improving data collection, distribution, and integration. Hum Mutat. 2009;30(3):275–82. DOI: 10.1002/humu.20832.Olivier M, Petitjean A, Teague J, et al. Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: proposed guidelines for improving data collection, distribution, and integration. Hum Mutat. 2009;30(3):275–82. DOI: 10.1002/humu.20832.Любченко Л.Н., Семьянихина А.В., Фу Р.Г. и др. Синдром Ли-Фраумени: ТР53-ассоциированные первично-множественные злокачественные опухоли. Вестник РОНЦ им. Н. Н. Блохина РАМН. 2012;23(2):52–58. [Lyubchenko LN, Semyanikhina AV, Fu RG et al. Li-Fraumeni syndrome: TP53-associated multiple primary malignant tumors. Journal of N. N. Blokhin Russian Cancer Research Center RAMS. 2012;23(2):52–58. (In Russ.)].Любченко Л.Н., Семьянихина А.В., Фу Р.Г. и др. Синдром Ли-Фраумени: ТР53-ассоциированные первично-множественные злокачественные опухоли. Вестник РОНЦ им. Н. Н. Блохина РАМН. 2012;23(2):52–58. [Lyubchenko LN, Semyanikhina AV, Fu RG et al. Li-Fraumeni syndrome: TP53-associated multiple primary malignant tumors. Journal of N. N. Blokhin Russian Cancer Research Center RAMS. 2012;23(2):52–58. (In Russ.)].Petitjean A, Achatz MI, Borresen-Dale AL, Hainaut P, Olivier M. TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes. Oncogene. 2007;26(15):2157–65. DOI: 10.1038/sj.onc.1210302.Petitjean A, Achatz MI, Borresen-Dale AL, Hainaut P, Olivier M. TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes. Oncogene. 2007;26(15):2157–65. DOI: 10.1038/sj.onc.1210302.Denisov EV, Cherdyntseva NV, Litvyakov NV, et al. TP53 mutations and Arg72Pro polymorphism in breast cancers. Cancer Genet Cytogenet. 2009 Jul 15;192(2):93–5. DOI: 10.1016/j.cancergencyto.2009.03.014.Denisov EV, Cherdyntseva NV, Litvyakov NV, et al. TP53 mutations and Arg72Pro polymorphism in breast cancers. Cancer Genet Cytogenet. 2009 Jul 15;192(2):93–5. DOI: 10.1016/j.cancergencyto.2009.03.014.Costa S, Pinto D, Pereira D, et al. Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer. BMC Cancer. 2008;8:32. DOI: 10.1186/1471-2407-8-32.Costa S, Pinto D, Pereira D, et al. Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer. BMC Cancer. 2008;8:32. DOI: 10.1186/1471-2407-8-32.Поспехова Н.И. Комплексный анализ наследственной формы рака молочной железы и/или яичников: молекулярно-генетические и фенотипические характеристики. Автореф. 2010. [Pospehova NI. Kompleksnyj analiz nasledstvennoj formy raka molochnoj zhelezy i/ilijaichnikov: molekuljarno-geneticheskie i fenotipicheskie harakteristiki. Avtoref. 2010. (In Russ.)].Поспехова Н.И. Комплексный анализ наследственной формы рака молочной железы и/или яичников: молекулярно-генетические и фенотипические характеристики. Автореф. 2010. [Pospehova NI. Kompleksnyj analiz nasledstvennoj formy raka molochnoj zhelezy i/ilijaichnikov: molekuljarno-geneticheskie i fenotipicheskie harakteristiki. Avtoref. 2010. (In Russ.)].Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. 1998;391(6663):184–7. DOI: 10.1038/34432.Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. 1998;391(6663):184–7. DOI: 10.1038/34432.Hezel AF, Bardeesy N. LKB1; linking cell structure and tumor suppression. Oncogene. 2008;27(55):6908–19. DOI: 10.1038/onc.2008.342Hezel AF, Bardeesy N. LKB1; linking cell structure and tumor suppression. Oncogene. 2008;27(55):6908–19. DOI: 10.1038/onc.2008.342Kong F, Wang M, Huang X, et al. Differential regulation of spermatogenic process by Lkb1 isoforms in mouse testis. Cell Death Dis. 20172;8(10):e312. DOI: 10.1038/cddis.2017.527.Kong F, Wang M, Huang X, et al. Differential regulation of spermatogenic process by Lkb1 isoforms in mouse testis. Cell Death Dis. 20172;8(10):e312. DOI: 10.1038/cddis.2017.527.Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. 1998;18(1):38–43. DOI: 10.1038/ng0198-38.Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. 1998;18(1):38–43. DOI: 10.1038/ng0198-38.Lim W, Hearle N, Shah B, et al. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer. 2003;89(2):308–13. DOI: 10.1038/sj.bjc.6601030.Lim W, Hearle N, Shah B, et al. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer. 2003;89(2):308–13. DOI: 10.1038/sj.bjc.6601030.Spurdle AB, Dite GS, Chen X, et al. Androgen receptor exon 1 CAG repeat length and breast cancer in women before age forty years. J Natl Cancer Inst. 1999;91(11):961–6. DOI: 10.1093/jnci/91.11.961.Spurdle AB, Dite GS, Chen X, et al. Androgen receptor exon 1 CAG repeat length and breast cancer in women before age forty years. J Natl Cancer Inst. 1999;91(11):961–6. DOI: 10.1093/jnci/91.11.961.Li J, Liu J, Li P, et al. Loss of LKB1 disrupts breast epithelial cell polarity and promotes breast cancer metastasis and invasion. J Exp Clin Cancer Res. 2014;33(1):70. DOI: 10.1186/s13046-014-0070-0.Li J, Liu J, Li P, et al. Loss of LKB1 disrupts breast epithelial cell polarity and promotes breast cancer metastasis and invasion. J Exp Clin Cancer Res. 2014;33(1):70. DOI: 10.1186/s13046-014-0070-0.Vahteristo P, Bartkova J, Eerola H, et al. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet. 2002;71(2):432–438. DOI: 10.1086/341943.Vahteristo P, Bartkova J, Eerola H, et al. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet. 2002;71(2):432–438. DOI: 10.1086/341943.Cai Z, Chehab NH, Pavletich NP. Structure and activation mechanism of the CHK2 DNA damage checkpoint kinase. Mol Cell. 2009;35(6):818–829. DOI:10.1016/j.molcel.2009.09.007.Cai Z, Chehab NH, Pavletich NP. Structure and activation mechanism of the CHK2 DNA damage checkpoint kinase. Mol Cell. 2009;35(6):818–829. DOI:10.1016/j.molcel.2009.09.007.Harper JW, Elledge SJ. The DNA damage response: ten years after. Mol Cell. 2007;28(5):739–745. DOI: 10.1016/j.molcel.2007.11.015.Harper JW, Elledge SJ. The DNA damage response: ten years after. Mol Cell. 2007;28(5):739–745. DOI: 10.1016/j.molcel.2007.11.015.Cybulski C, Wokołorczyk D, Jakubowska A, et al. Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. J Clin Oncol. 2011;29(28):3747–52. DOI: 10.1200/JCO.2010.34.0778.Cybulski C, Wokołorczyk D, Jakubowska A, et al. Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. J Clin Oncol. 2011;29(28):3747–52. DOI: 10.1200/JCO.2010.34.0778.Domagala P, Wokolorczyk D, Cybulski C, et al. Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer. Breast Cancer Res Treat. 2012;132(3):937–45. DOI: 10.1007/s10549-011-1635-7.Domagala P, Wokolorczyk D, Cybulski C, et al. Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer. Breast Cancer Res Treat. 2012;132(3):937–45. DOI: 10.1007/s10549-011-1635-7.Meijers-Heijboer H, van den Ouweland A, Klijn J, et al. Lowpenetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet. 2002;31(1):55–9. DOI: 10.1038/ng879.Meijers-Heijboer H, van den Ouweland A, Klijn J, et al. Lowpenetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet. 2002;31(1):55–9. DOI: 10.1038/ng879.CHEK2 Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004;74(6):1175–82. DOI: 10.1086/421251.CHEK2 Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004;74(6):1175–82. DOI: 10.1086/421251.Zhang S, Phelan CM, Zhang P, et al. Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study. Cancer Res. 2008;68(7):2154–7. DOI: 10.1158/0008-5472.CAN-07-5187.Zhang S, Phelan CM, Zhang P, et al. Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study. Cancer Res. 2008;68(7):2154–7. DOI: 10.1158/0008-5472.CAN-07-5187.Sokolenko AP, Rozanov ME, Mitiushkina NV, et al. Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia. Fam Cancer. 2007;6(3):281–6. DOI: 10.1007/s10689-007-9120-5.Sokolenko AP, Rozanov ME, Mitiushkina NV, et al. Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia. Fam Cancer. 2007;6(3):281–6. DOI: 10.1007/s10689-007-9120-5.Kleiblova P, Stolarova L, Krizova K, et al. Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer. Int J Cancer. 2019;145(7):1782–97. DOI:10.1002/ijc.32385.Kleiblova P, Stolarova L, Krizova K, et al. Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer. Int J Cancer. 2019;145(7):1782–97. DOI:10.1002/ijc.32385.Blackford AN, Jackson SP. ATM, ATR, and DNA-PK: The Trinity at the Heart of the DNA Damage Response. Mol Cell. 2017;66(6):801–17. DOI: 10.1016/j.molcel.2017.05.015.Blackford AN, Jackson SP. ATM, ATR, and DNA-PK: The Trinity at the Heart of the DNA Damage Response. Mol Cell. 2017;66(6):801–17. DOI: 10.1016/j.molcel.2017.05.015.Bakkenist CJ, Kastan MB. DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature. 2003;421(6922):499–506. DOI: 10.1038/nature01368.Bakkenist CJ, Kastan MB. DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature. 2003;421(6922):499–506. DOI: 10.1038/nature01368.Kuznetsova MV, Trofimov DY, Shubina ES, et al. Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion Ampli Seq Inherited Disease Panel. Front Neurol. 2017;8:570. DOI: 10.3389/fneur.2017.00570.Kuznetsova MV, Trofimov DY, Shubina ES, et al. Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion Ampli Seq Inherited Disease Panel. Front Neurol. 2017;8:570. DOI: 10.3389/fneur.2017.00570.Gao J, Aksoy BA, Dogrusoz U, et al. Integrative analysis of complex cancer genomics and clinical profiles using the c Bio Portal. Sci Signal. 2013;6(269):pl1. DOI: 10.1126/scisignal.2004088.Gao J, Aksoy BA, Dogrusoz U, et al. Integrative analysis of complex cancer genomics and clinical profiles using the c Bio Portal. Sci Signal. 2013;6(269):pl1. DOI: 10.1126/scisignal.2004088.Cerami E, Gao J, Dogrusoz U, et al. The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov. 2012;2(5):401–4. DOI: 10.1158/2159-8290.CD-12-0095.Cerami E, Gao J, Dogrusoz U, et al. The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov. 2012;2(5):401–4. DOI: 10.1158/2159-8290.CD-12-0095.Choi M, Kipps T, Kurzrock R. ATM Mutations in Cancer: Therapeutic Implications. Mol Cancer Ther. 2016;15(8):1781–91. DOI: 10.1158/1535-7163.MCT-15-0945.Choi M, Kipps T, Kurzrock R. ATM Mutations in Cancer: Therapeutic Implications. Mol Cancer Ther. 2016;15(8):1781–91. DOI: 10.1158/1535-7163.MCT-15-0945.Marabelli M, Cheng SC, Parmigiani G. Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk. Genet Epidemiol. 2016;40(5):425–31. DOI: 10.1002/gepi.21971.Marabelli M, Cheng SC, Parmigiani G. Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk. Genet Epidemiol. 2016;40(5):425–31. DOI: 10.1002/gepi.21971.Prokopcova J, Kleibl Z, Banwell CM, Pohlreich P. The role of ATM in breast cancer development. Breast Cancer Res Treat. 2007;104(2):121–8. DOI: 10.1007/s10549-006-9406-6.Prokopcova J, Kleibl Z, Banwell CM, Pohlreich P. The role of ATM in breast cancer development. Breast Cancer Res Treat. 2007;104(2):121–8. DOI: 10.1007/s10549-006-9406-6.Stucci LS, Internò V, Tucci M, et al. The ATM Gene in Breast Cancer: Its Relevance in Clinical Practice. Genes (Basel). 2021;12(5):727. DOI: 10.3390/genes12050727.Stucci LS, Internò V, Tucci M, et al. The ATM Gene in Breast Cancer: Its Relevance in Clinical Practice. Genes (Basel). 2021;12(5):727. DOI: 10.3390/genes12050727.Ye C, Cai Q, Dai Q, et al. Expression patterns of the ATM gene in mammary tissues and their associations with breast cancer survival. Cancer. 2007;109(9):1729–35. DOI: 10.1002/cncr.22592.Ye C, Cai Q, Dai Q, et al. Expression patterns of the ATM gene in mammary tissues and their associations with breast cancer survival. Cancer. 2007;109(9):1729–35. DOI: 10.1002/cncr.22592.Angèle S, Hall J. The ATM gene and breast cancer: is it really a risk factor? Mutat Res. 2000 Apr;462(2-3):167–78. DOI: 10.1016/s1383-5742(00)00034-x.Angèle S, Hall J. The ATM gene and breast cancer: is it really a risk factor? Mutat Res. 2000 Apr;462(2-3):167–78. DOI: 10.1016/s1383-5742(00)00034-x.Bueno RC, Canevari RA, Villacis RA, et al. ATM down-regulation is associated with poor prognosis in sporadic breast carcinomas. Ann Oncol. 2014 Jan;25(1):69–75. DOI: 10.1093/annonc/mdt421.Bueno RC, Canevari RA, Villacis RA, et al. ATM down-regulation is associated with poor prognosis in sporadic breast carcinomas. Ann Oncol. 2014 Jan;25(1):69–75. DOI: 10.1093/annonc/mdt421.Moslemi M, Moradi Y, Dehghanbanadaki H, et al. The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis. BMC Cancer. 2021 Jan 5;21(1):27. DOI: 10.1186/s12885-020-07749-6.Moslemi M, Moradi Y, Dehghanbanadaki H, et al. The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis. BMC Cancer. 2021 Jan 5;21(1):27. DOI: 10.1186/s12885-020-07749-6.Gao LB, Pan XM, Sun H, et al. The association between ATM D1853N polymorphism and breast cancer susceptibility: a meta-analysis. J Exp Clin Cancer Res. 2010 Aug 27;29(1):117. DOI: 10.1186/1756-9966-29-117.Gao LB, Pan XM, Sun H, et al. The association between ATM D1853N polymorphism and breast cancer susceptibility: a meta-analysis. J Exp Clin Cancer Res. 2010 Aug 27;29(1):117. DOI: 10.1186/1756-9966-29-117.Xia B, Dorsman JC, Ameziane N, et al. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet. 2007;39(2):159–61. DOI: 10.1038/ng1942.Xia B, Dorsman JC, Ameziane N, et al. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet. 2007;39(2):159–61. DOI: 10.1038/ng1942.Sy SM, Huen MS, Chen J. PALB2 is an integral component of the BRCA complex required for homologous recombination repair. Proc Natl Acad Sci USA. 2009 Apr 28;106(17):7155–60. DOI: 10.1073/pnas.0811159106.Sy SM, Huen MS, Chen J. PALB2 is an integral component of the BRCA complex required for homologous recombination repair. Proc Natl Acad Sci USA. 2009 Apr 28;106(17):7155–60. DOI: 10.1073/pnas.0811159106.Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014 Aug 7;371(6):497–506. DOI: 10.1056/NEJMoa1400382.Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014 Aug 7;371(6):497–506. DOI: 10.1056/NEJMoa1400382.Wu S, Zhou J, Zhang K, et al. Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management. Front Oncol. 2020 Feb 28;10:301. DOI: 10.3389/fonc.2020.00301.Wu S, Zhou J, Zhang K, et al. Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management. Front Oncol. 2020 Feb 28;10:301. DOI: 10.3389/fonc.2020.00301.Heikkinen T, Karkkainen H, Aaltonen K, et al. The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res. 2009;15:3214–22. DOI: 10.1158/1078-0432.CCR-08-3128.Heikkinen T, Karkkainen H, Aaltonen K, et al. The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res. 2009;15:3214–22. DOI: 10.1158/1078-0432.CCR-08-3128.Garcia MJ, Fernandez V, Osorio A, et al. Analysis of FANCB and FANCN/PALB2 Fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. Breast Cancer Res Treat. 2009;113:545–51. DOI: 10.1007/s10549-008-9945-0.Garcia MJ, Fernandez V, Osorio A, et al. Analysis of FANCB and FANCN/PALB2 Fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. Breast Cancer Res Treat. 2009;113:545–51. DOI: 10.1007/s10549-008-9945-0.Cybulski C, Kluźniak W, Huzarski T, et al. Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis. Lancet Oncol. 2015;16(6):638–44. DOI: 10.1016/S1470-2045(15)70142-7.Cybulski C, Kluźniak W, Huzarski T, et al. Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis. Lancet Oncol. 2015;16(6):638–44. DOI: 10.1016/S1470-2045(15)70142-7.Deng M, Chen HH, Zhu X, et al. Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China. Int J Cancer. 2019;145:1517–28. DOI: 10.1002/ijc.32184.Deng M, Chen HH, Zhu X, et al. Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China. Int J Cancer. 2019;145:1517–28. DOI: 10.1002/ijc.32184.Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371(6):497–506. DOI: 10.1056/NEJMoa1400382.Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371(6):497–506. DOI: 10.1056/NEJMoa1400382.Li YT, Jiang WH, Wang XW, et al. PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China. Eur J Med Res. 2015;20:85. DOI: 10.1186/s40001-015-0182-9.Li YT, Jiang WH, Wang XW, et al. PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China. Eur J Med Res. 2015;20:85. DOI: 10.1186/s40001-015-0182-9.Гервас П.А., Молоков А.Ю., Зарубин А.А., и др. Новая мутация в гене PALB2, ассоциированная с наследственным раком молочной железы у молодой пациентки, принадлежащей к якутской этнической группе. Сибирский онкологический журнал. 2022;21(4):72–79. [Gervas PA, Molokov AYu, Zarubin AA, et al. A novel germline mutation of the PALB2 gene in a young Yakut breast cancer woman. Siberian journal of oncology. 2022;21(4):72–79. (In Russ.)]. DOI: 10.21294/1814-4861-2022-21-4-72-79.Гервас П.А., Молоков А.Ю., Зарубин А.А., и др. Новая мутация в гене PALB2, ассоциированная с наследственным раком молочной железы у молодой пациентки, принадлежащей к якутской этнической группе. Сибирский онкологический журнал. 2022;21(4):72–79. [Gervas PA, Molokov AYu, Zarubin AA, et al. A novel germline mutation of the PALB2 gene in a young Yakut breast cancer woman. Siberian journal of oncology. 2022;21(4):72–79. (In Russ.)]. DOI: 10.21294/1814-4861-2022-21-4-72-79.Weber BL, Nathanson KL. Low penetrance genes associated with increased risk for breast cancer. Eur J Cancer. 2000;36(10):1193–9. DOI: 10.1016/s0959-8049(00)00082-4.Weber BL, Nathanson KL. Low penetrance genes associated with increased risk for breast cancer. Eur J Cancer. 2000;36(10):1193–9. DOI: 10.1016/s0959-8049(00)00082-4.Meindl A, Ditsch N, Kast K, et al. Hereditary breast and ovarian cancer: new genes, new treatments, new concepts. Dtsch Arztebl Int. 2011 May;108(19):323–30. DOI: 10.3238/arztebl.2011.0323.Meindl A, Ditsch N, Kast K, et al. Hereditary breast and ovarian cancer: new genes, new treatments, new concepts. Dtsch Arztebl Int. 2011 May;108(19):323–30. DOI: 10.3238/arztebl.2011.0323.

The authors declare that there are no conflicts of interest present.