More evidence for widespread antagonistic pleiotropy in polymorphic disease alleles
C Lockwood, AS Vo, H Bellafard, AJR Carter - Frontiers in Genetics, 2024 - frontiersin.org
Introduction Many loci segregate alleles classified as “genetic diseases” due to their
deleterious effects on health. However, some disease alleles have been reported to show …
deleterious effects on health. However, some disease alleles have been reported to show …
Comparative sequencing study of mismatch repair and homology‐directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan
Y Zheng, N Vdovichenko, P Schürmann… - … Journal of Cancer, 2025 - Wiley Online Library
Endometrial cancer has been associated with pathogenic variants in mismatch repair (MMR)
genes, especially in the context of the hereditary Lynch Syndrome. More recently …
genes, especially in the context of the hereditary Lynch Syndrome. More recently …
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management
Abstract Background BRCA1: c. 5017_5019del (p. His1673del) is a founder variant
relatively frequent in Northern Italy. Despite previous suggestion of pathogenicity, variant …
relatively frequent in Northern Italy. Despite previous suggestion of pathogenicity, variant …
Incidence of endometrial cancer in BRCA mutation carriers
J Kotsopoulos, J Lubinski, T Huzarski… - Gynecologic …, 2024 - Elsevier
Objective Whether or not women who harbor a germline pathogenic variant ('mutation') in
the BRCA1 or BRCA2 genes are at elevated risk of developing endometrial cancer is yet to …
the BRCA1 or BRCA2 genes are at elevated risk of developing endometrial cancer is yet to …
Liquid biopsy as a new era in endometrial cancer
D Zhuri, S Yalcintepe - Oncologie, 2024 - degruyter.com
Endometrial cancer (EC) is one of the most frequent invasive cancers of the female genital
tract, and despite the rising incidence of EC worldwide and the poor overall survival of …
tract, and despite the rising incidence of EC worldwide and the poor overall survival of …
HRD-негативная карцинома яичника высокой степени злокачественности у пациентки с наследственной мутацией BRCA2
АП Соколенко, СВ Полетаева… - Сибирский …, 2024 - siboncoj.ru
Аннотация Актуальность. Дефицит гомологичной рекомбинации (HRD)–это важный
предиктивный маркер эффективности препаратов платины и ингибиторов поли (АДФ …
предиктивный маркер эффективности препаратов платины и ингибиторов поли (АДФ …