medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2026.04.27-37medgen-3431Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL CASEКлинический случай рака молочной железы, ассоциированного с патогенным вариантом в гене СНЕК2Clinical case of breast cancer associated with a pathogenic variant in the CHEK2 geneКудрявцеваЕ. В.KudryavtsevaE. V.

620028, г. Екатеринбург, ул. Репина, д. 3 

620028, г. Екатеринбург, ул. Репина, д. 1 

3 Repina st., Yekaterinburg, 620028 

1 Repina st., Yekaterinburg, 620028 

elenavladpopova@yandex.ruБикбулатоваЭ. Р.BikbulatovaE. R.

620028, г. Екатеринбург, ул. Репина, д. 3 

3 Repina st., Yekaterinburg, 620028 

КнышО. Е.KnyshO. E.

620028, г. Екатеринбург, ул. Репина, д. 3 

3 Repina st., Yekaterinburg, 620028 

ФГБОУ ВО Уральский государственный медицинский университет Минздрава РФ; ФГБУ Уральский научно-исследовательский институт охраны материнства и младенчества Минздрава РФРоссияUral State Medical university; Ural Research Institute of Maternal and Child HealthRussian FederationФГБОУ ВО Уральский государственный медицинский университет Минздрава РФРоссияUral State Medical universityRussian Federation2026100520262542737Copyright © Кудрявцева Е.В., Бикбулатова Э.Р., Кныш О.Е., 20262026Кудрявцева Е.В., Бикбулатова Э.Р., Кныш О.Е.Kudryavtseva E.V., Bikbulatova E.R., Knysh O.E.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/3431

Представлен клинический случай рака молочной железы, ассоциированного с беременностью (pregnancy-associated breast cancer – PABC) у пациентки с патогенным вариантом CHEK2 c.1100delC. Заболевание манифестировало в послеродовом периоде и изначально расценивалось как лактостаз, что привело к поздней диагностике опухоли крупного размера. Была проведена комбинированная терапия с полным метаболическим и морфологическим ответом, после чего выявлен наследственный характер заболевания. Обсуждаются особенности биологии PABC и влияние патогенных вариантов CHEK2 на клиническое течение и прогноз, включая риск контралатерального рака. Отмечена необходимость персонализированного подхода к диагностике и лечению у женщин репродуктивного возраста с PABC и обоснована целесообразность включения варианта CHEK2 c.1100delC в перечень скрининговых ПЦР-тестов. Подчёркиваются важность раннего генетического тестирования и отсутствие унифицированных рекомендаций по ведению таких пациенток.

We report a clinical case of pregnancy-associated breast cancer (PABC) in a woman carrying the pathogenic CHEK2 c.1100delC variant. The tumor was diagnosed postpartum and initially misinterpreted as lactostasis, which led to a delay in diagnosis at an advanced tumor size. The patient received a combined treatment regimen with a complete metabolic and pathological response, followed by confirmation of a hereditary cancer predisposition. This case highlights the biological features of PABC and the clinical implications of CHEK2 pathogenic variants, including elevated risk of contralateral breast cancer. The need for a personalized approach in diagnosis and treatment of young women with PABC is emphasized. The findings support the inclusion of the CHEK2 c.1100delC variant in standard PCR screening panels and underscore the lack of standardized guidelines for managing hereditary PABC cases.

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