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Integrated genomic characterization of endometrial carcinoma
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SummaryWe performed an integrated genomic, transcriptomic, and proteomic characterization of 373 endometrial carcinomas using array- and sequencing-based technologies. Uterine serous tumors and ~25% of high-grade endometrioid tumors have extensive copy number alterations, few DNA methylation changes, low ER/PR levels, and frequent TP53 mutations. Most endometrioid tumors have few copy number alterations or TP53 mutations but frequent mutations in PTEN, CTNNB1, PIK3CA, ARID1A, KRAS and novel mutations in the SWI/SNF gene ARID5B. A subset of endometrioid tumors we identified had a dramatically increased transversion mutation frequency, and newly identified hotspot mutations in POLE. Our results classified endometrial cancers into four categories: POLE ultramutated, microsatellite instability hypermutated, copy number low, and copy number high. Uterine serous carcinomas share genomic features with ovarian serous and basal-like breast carcinomas. We demonstrated that the genomic features of endometrial carcinomas permit a reclassification that may impact post-surgical adjuvant treatment for women with aggressive tumors.
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“AR is up-regulated in 9.8% of endometrial adenocarcinoma grade 3 samples [63, 90].”
From Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism (2014) · cites this paper as [90]
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p53 Immunohistochemical Staining and TP53 Gene Mutations in Endometrial Cancer
Sakamoto, I., Kagami, K., Nozaki, T., Hirotsu, Y., Amemiya, K., Oyama, T., & Omata, M. (2023) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000002106 · Cited by 7
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“Polymerase epsilon (POLE)-ultramu- tated, microsatellite instability (MSI) hypermutated, copy-number low (endometrioid) and copy-number high (serous-like) are the subgroups of this molecular classifcation [3].”
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Pang, X., Li, F., Lu, M., & Zhu, L. (2023) · Journal of Cancer · doi:10.7150/jca.86325 · Cited by 7
“molecular subgroups: "POLE ultramutated" (POLE), "hypermutated/microsatellite-unstable" (MSI-H), "copy number low/microsatellite-stable" (CN-L), and "copy number high" (CN-H) [35].”
Yang, S., Luo, Y., Zhou, D., Xiang, J., & Xi, X. (2023) · Translational Cancer Research · doi:10.21037/tcr-23-742 · Cited by 6
“Based on an integration of numerous molecular phenotypes, The Cancer Genome Atlas (TCGA) has classified endometrial cancer into four categories (8).”
Norimatsu, Y., Maeda, Y., Malara, N. M., et al. (2023) · Cytopathology · doi:10.1111/cyt.13342 · Cited by 6
Spatial distribution of tumor‐resident macrophages as predictive biomarkers in endometrial cancer
Matsukawa, T., Yoshikawa, N., Liu, W., et al. (2024) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.15953 · Cited by 6
MRI-based radiomics model for predicting endometrial cancer with high tumor mutation burden
Meng, X., Yang, D., Jin, H., Xu, H., Lu, J. G., Liu, Z., Wang, Z., Wang, L., & Yang, Z. (2024) · Abdominal Radiology · doi:10.1007/s00261-024-04547-7 · Cited by 8
“…subtypes of EC induce ultramu - tations (232 × 10 − 6 mutations/Mb) and hypermutations (18 × 10 − 6 mutations/Mb) owing to DNA mismatch-repair deficiency [ 4, 32 ], and the mutation frequency induced by POLE and dMMR subtypes is significantly higher than that induced by NSMP and p53 abn subtypes.”
Li, Y., Fan, Y. J., Cao, S., Zhang, Y., & Li, J. P. (2025) · International Journal of Gynecology & Obstetrics · doi:10.1002/ijgo.16157 · Cited by 6
“3 7 Given that the neoplastic process of endometrial carcinoma has been linked to mutations in numerous genes 8 and mutational profiles appear to be strongly associated with prognosis, mutational profiles may provide an attractive new context to predict survival of patients with endometrial…”
Buchynska, L. G., Naleskina, L. A., & Nesina, I. P. (2019) · Experimental Oncology · doi:10.32471/exp-oncology.2312-8852.vol-41-no-4.13965 · Cited by 6
Haag, J. G., Wolsky, R. J., Moroney, M. R., Sheren, J., Sheeder, J. L., Bitler, B. G., & Corr, B. R. (2022) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000000865 · Cited by 6
“In an effort to understand the interaction between CTNNB1 status and TCGA prognostic subgroups, 85 tumors underwent further evaluation resulting in 8% (7/85) POLE (including 3 multiple-classifier POLEMMRd cases), 38% (32/85) MMRd, 53% (45/85) NSMP, and 1% (1/85) p53, proportions similar to those reported in previous s…”
MethodInfluentialTakeuchi, H., Miyamoto, T., Fuseya, C., et al. (2022) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000000882 · Cited by 6
“The phosphatidylinositol-3 kinase (PI3K) pathway is activated in EMC by PTENinactivated or PIK3CA-activated mutations (15).”
BackgroundMethodInfluentialThe role of toll-like receptors (TLRs) and their therapeutic applications in endometrial cancer
Arabian, S., Boostan, A., & Darzi, S. (2022) · Clinical & Translational Oncology · doi:10.1007/s12094-022-02999-1 · Cited by 5
Chibbar, R., Foerstner, S., Suresh, J., et al. (2023) · Applied immunohistochemistry & molecular morphology · doi:10.1097/pai.0000000000001102 · Cited by 6
Matson, D. R., Accola, M. A., Henderson, L., Shao, X., Frater-Rubsam, L., Horner, V. L., Rehrauer, W. M., Weisman, P. S., & Xu, J. Y. (2021) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000000817 · Cited by 6
“At the genetic level, SC is characterized by numerous copy number alterations and frequent mutations in tumor protein P53 (TP53) (7).”
BackgroundMethodInfluentialCheng, Y., Huang, H., Han, Y., & Zhu, Y. (2020) · Translational Cancer Research · doi:10.21037/tcr-20-3155 · Cited by 6
“The mutation and polymorphism of protooncogenes, cancer suppressor genes, estrogen-related genes, estrogen/progesterone receptor genes can increase the risk of EC (2).”
BackgroundCohesin mutations and chromatin changes in cancer
Swett, A. D., & Tóthová, Z. (2025) · International Journal of Cancer · doi:10.1002/ijc.35378 · Cited by 7
Principles of Knowledge Auditing
Lambe, P. (2023) · The MIT Press eBooks · doi:10.7551/mitpress/14908.001.0001 · Cited by 6
Zheng, W., Wu, Y., Wang, Y., et al. (2023) · Medicine · doi:10.1097/md.0000000000034228 · Cited by 5
“[8,9] In 2013, The Cancer Genome Atlas (TCGA) proposed 4 new molecular subtypes of EC based on genomic analysis, including polymerase E (POLE) ultramutated, microsatellite instability (MSI), copy-number low/microsatellite stability and copy-number high type.[10] With the increasingly mature application of molecular ty…”
MethodKhatib, S. A., Bhatnagar, A., Elshaikh, N., et al. (2023) · American Journal of Clinical Oncology · doi:10.1097/coc.0000000000001033 · Cited by 5
Development of a 4-miRNA prognostic signature for endometrial cancer
Huang, J., Du, F., & Wang, N. (2022) · Medicine · doi:10.1097/md.0000000000030974 · Cited by 5
“Most of the endometrial tumors, such as TP53, PTEN, PIK3CA, CTNNB1, tend to have different frequencies of mutations.[37] In this study, we found that there was a high mutation of TP53 in the high-risk group of UCEC patients and a high mutation of PTEN in the low-risk group.”
BackgroundWang, M., Yan, Q., Song, Y., et al. (2022) · Oncogene · doi:10.1038/s41388-022-02550-0 · Cited by 5
Makia, N. L., Thomas, M., Ring, K. L., et al. (2023) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000002064 · Cited by 5
“These tumors are thought to represent a heterogeneous group that can be accounted for by either (1) undetected pathogenic variants; (2) immunohistochemical errors; or (3) somatic alterations.”
BackgroundLee, P. J., McNulty, S. N., Duncavage, E. J., Heusel, J. W., & Hagemann, I. S. (2017) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000000459 · Cited by 5
Pisapia, P., Bellevicine, C., Malapelle, U., Luca, C. D., Vigliar, E., & Troncone, G. (2019) · Cancer Cytopathology · doi:10.1002/cncy.22118 · Cited by 5
“Similar to the other systems, each diagnostic class is linked to a definite ROM and a standardized terminology, which is crucial for correlating cytological changes with The Cancer Genome Atlas (TCGA) molecular classes of endometrial carcinomas.(15)”
ResultBaniak, N. M., Gilks, C. B., DeCoteau, J. F., & Kinloch, M. A. (2019) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000000638 · Cited by 6
“p53 immunohistochemistry (IHC) and TP53mutation assessment correlate closely and both methods have been successful in identifying the p53abn molecular subgroup of EC (6,13).”
BackgroundMethodHuang, S., Lin, H., Huang, C., et al. (2021) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000000808 · Cited by 5
“Differences in the rates of endometrioid histology between dMMR ECs and pMMR ECs are inconsistent among different studies, which may be due to the heterogeneity of molecular phenotypes in pMMR ECs (3,4).”
BackgroundYulan, R., Wang, T., Cheng, X., et al. (2023) · Annals of Translational Medicine · doi:10.21037/atm-22-6463 · Cited by 5
Kitazono, I., Akahane, T., Yokoyama, S., Kobayashi, Y., Togami, S., Yanazume, S., Tasaki, T., Noguchi, H., Tabata, K., Kobayashi, H., et al. (2023) · Pathology - Research and Practice · doi:10.1016/j.prp.2023.154563 · Cited by 6
Xiao, H., Hu, L., Tan, Q., Jia, J., Xie, P., Li, J., & Wang, M. (2023) · Translational Cancer Research · doi:10.21037/tcr-23-234 · Cited by 3
“Malignant tumors are diverse and complex diseases with molecular changes on genomic, transcriptomic, proteomic and epigenetic levels and are highly variable in histological features and clinical prognoses (1).”
Deep Subspace Similarity Fusion for the Prediction of Cancer Subtypes
Yang, B., Liu, S., Pang, S., Pang, C., & Shang, X. (2018) · IEEE International Conference on Bioinformatics and Biomedicine (BIBM) · doi:10.1109/bibm.2018.8621247 · Cited by 5
“We perform the DSSF on multi-levels omics data available from TCGA, compared with SNF and other relevant integrative methods for prediction of cancer subtypes.”
BackgroundInfluentialHuang, H., Kuo, C.-W., Lin, M.-C., et al. (2019) · Applied immunohistochemistry & molecular morphology · doi:10.1097/pai.0000000000000749 · Cited by 5
Gaudet-Chardonnet, A., Azaïs, H., Ballester, M., et al. (2020) · Annals of Surgical Oncology · doi:10.1245/s10434-020-08812-z · Cited by 5
Tumor‐only sequencing for oncology management: Germline‐focused analysis and implications
George, A. J., & Turnbull, C. (2020) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22919 · Cited by 5
“A particular issue arises with tumors that are hypermutated or ultramutated, such as, those associated with mutations in the mismatch repair (MMR) or POL-E genes.(12,13) In these patients, panel testing often produces a lengthy list of pathogenic variants, including multiple possible causative germline variants.”
BackgroundBennett, J. A., Fleming, G. F., Kurnit, K. C., Mills, K. A., & van Weelden, W. J. (2022) · CA A Cancer Journal for Clinicians · doi:10.3322/caac.21715 · Cited by 5
Liu, C., Zhang, Y., & Hang, C. (2022) · Annals of Translational Medicine · doi:10.21037/atm-22-301 · Cited by 5
“(I) ultramutated EC; (II) microsatellite instability-high (MSI-H) genotype (hypermutated); (III) copy number low tumors; (IV) copy number high tumors (35).”
BackgroundKośla, K., Orzechowska, M., Jędroszka, D., et al. (2019) · Frontiers in Oncology · doi:10.3389/fonc.2019.00360 · Cited by 5
Angelico, G., Santoro, A., Rossi, E. D., et al. (2021) · Cancer Cytopathology · doi:10.1002/cncy.22407 · Cited by 5
“According to the Cancer Genome Atlas model, 4 molecular categories of EC are recognized: 1) ultramutated (DNA polymerase epsilon mutated), 2) hypermutated secondary to microsatellite instability, 3) low copy number, and 4) high copy number (serous-like).(8)”
MethodSun, C., Liu, X., Liu, T., Fan, C., Jiang, Y. Z., Li, B., Yuan, H., Zheng, C., & Xu, D. (2025) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2025.1592135 · Cited by 4
Moreno-Moreno, E., Caniego-Casas, T., Carretero‐Barrio, I., et al. (2024) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000002308 · Cited by 4
Ma, L. X., Bennett, J. A., Tjota, M. Y., et al. (2025) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000002399 · Cited by 4
Endometrial carcinoma and immune escape: prognostic relevance of HLA class I loss in NSMP subtype
Grillini, M., Lenzi, J., Ceccarelli, C., de Biase, D., Maloberti, T., Coluccelli, S., Poppi, L., Ciudino, R., Ravaioli, C., Coadǎ, C. A., et al. (2025) · Histopathology · doi:10.1111/his.15531 · Cited by 9
Öztürk, Ç. P., Askan, G., Öztürk, S. D., et al. (2022) · Turkish Journal of Pathology · doi:10.5146/tjpath.2022.01596 · Cited by 4
“Endometrioid type endometrial carcinoma (ECC) was divided into 4 different molecular subtypes in 2013 (4).”
Kuriakose, S., Dhanasooraj, D., Shiny, P. M., et al. (2024) · International Journal of Gynecology & Obstetrics · doi:10.1002/ijgo.15486 · Cited by 4
Mills, A. M., & Pinto, A. (2024) · Advances in Anatomic Pathology · doi:10.1097/pap.0000000000000458 · Cited by 4
“47 In the LFGT, p53 IHC is mostly applied in the diagnosis and prognostication of precursor lesions and invasive squamous cell carcinoma of the vulva (VSCC).”
Ussakli, C., Usubutün, A., Dinçer, N., et al. (2016) · Polish Journal of Pathology · doi:10.5114/pjp.2016.63773 · Cited by 4
Immuno-Oncology for Gynecologic Malignancies
How, J. A., Patel, A., & Jazaeri, A. A. (2021) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-79308-1_6 · Cited by 4
The Use of Targeted Agents in the Treatment of Gynecologic Cancers
Bruce, S. F., & Powell, M. A. (2022) · Current Treatment Options in Oncology · doi:10.1007/s11864-021-00918-0 · Cited by 4
APOBEC3A /B deletion polymorphism and endometrial cancer risk
Sofiyeva, N., Krakstad, C., Halle, M. K., O’Mara, T. A., Romundstad, P., Hveem, K., VATTEN, L. J., Lønning, P. E., Gansmo, L. B., & Knappskog, S. (2022) · Cancer Medicine · doi:10.1002/cam4.5448 · Cited by 4
Landscape of somatic mutated genes and inherited susceptibility genes in gynecological cancer
Watanabe, T., Soeda, S., Okoshi, C., Fukuda, T., Yasuda, S., & Fujimori, K. (2023) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.15766 · Cited by 4
“21 However, Cui et al. found no significant association between PIK3CA mutation and survival in patients with CC. 19 In previous reports, PIK3CA mutations have been reported in 16% – 54% of EC cases 5,22,23 and have been frequently detected in not only endometrioid EC (EEC) but also non-EEC.”
BackgroundInfluentialBeyond Serous: Treatment Options for Rare Endometrial Cancers
Crane, E. K. (2022) · Current Treatment Options in Oncology · doi:10.1007/s11864-022-01014-7 · Cited by 4
“The Cancer Genome Atlas Study, which led to classification of endometrial cancers into four molecular subtypes, did not include these rarer histologic types [3], thereby limiting applicability.”
BackgroundThe 100 Most Cited Papers About Cancer Epigenetics
Jusué-Torres, I., Mendoza, J. E., Brock, M. V., & Hulbert, A. (2020) · Cureus · doi:10.7759/cureus.7623 · Cited by 4
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“and molecular markers that carry potential therapeutic implications.(30) In their analysis, 4 mutation classes have been identified: POLE (ultramuted), microsatellite instability (MSI) (hypermutated), copy-number low (endometrioid), and copy-number high (serous-like).”
BackgroundAssociation of molecular subgroups with pathological parameters in endometrial carcinomas
Ratnakaran, N., Nair, I. R., Rajanbabu, A., Patel, V., Ariyannur, P. S., & Thelakkattusserry, S. K. (2023) · Indian Journal of Cancer · doi:10.4103/ijc.ijc_13_21 · Cited by 3
Implementation of endometrial cancer molecular subtyping into a hybrid community-academic practice
Ferreira, E. O., Schefter, A. M., Brustad, A., et al. (2024) · American Journal of Clinical Pathology · doi:10.1093/ajcp/aqae010 · Cited by 3
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Ueda, H., Ishiguro, T., Mori, Y., Yamawaki, K., Okamoto, K., Enomoto, T., & Yoshihara, K. (2024) · Cell Death Discovery · doi:10.1038/s41420-024-02204-y · Cited by 5
“Similar to many cancers, most endometrial cancers exhibit genomic aberrations in the PI3K – Akt – mTORC1 signaling pathway, which often lead to mTORC1 hyperactivation [4].”
BackgroundMethodRusnell, L., Al-Shamma, Z. A., & Bisch, S. P. (2025) · Gynecologic Oncology Reports · doi:10.1016/j.gore.2025.101693 · Cited by 3
“In recent years there has been growing interest in the molecular basis of endometrial adenocarcinomas outlined in The Cancer Genome Atlas (TCGA) due to the marked variation in clinical outcome and prognosis associated with each category (Kandoth, 2013).”
Li, Q., & Zhang, X. (2022) · International Journal of Gynecology & Obstetrics · doi:10.1002/ijgo.14606 · Cited by 3
Yasunaga, M., Yahata, H., Okugawa, K., et al. (2023) · American Journal of Clinical Oncology · doi:10.1097/coc.0000000000001021 · Cited by 3
“Data regarding the following clinicopathologic variables were recorded for analysis: (1) age, (2) performance status, (3) histology, (4) history of pelvic irradiation as an adjuvant setting, (5) PFI, (6) chemotherapeutic regimen and number of cycles, and (7) PFS and overall survival (OS) after retreatment with PCC, an…”
MethodDavies, K. D., Smith, L. P., Guimarães-Young, A., Corr, B. R., Fisher, C. M., Guntupalli, S. R., Berning, A. A., Post, M. D., Pino, D., Aisner, D. L., et al. (2023) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000000994 · Cited by 5
Arslan-Kahraman, D. I., Öğüt, B., İnan, M. A., et al. (2024) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000001049 · Cited by 3
“The Cancer Genome Atlas (TCGA) has classi fi ed ECs into 4 subgroups; POLE ultramutated, microsatellite instable (MSI) hypermutated, copy number low, and copy number high 4 .”
InfluentialMorphomolecular Correlation and Clinicopathologic Analysis in Endometrial Carcinoma
Bülbül, G., Aktaş, T. Ç., Ağalar, A. A., et al. (2024) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000001013 · Cited by 3
“…Genomic Atlas Research Network ( TCGA ) used sequencing and sequencing-based technologies, and revealed 4 molecular subgroups in endometrial carcinomas in 2013 and laid the foundations for a new classi fi cation that will affect adjuvant treatment algorithms for women with aggressive tumors (3).”
BackgroundMethodFunctional and therapeutic significant of heat-shock protein 90 (HSP90) in reproductive cancers
He, B.-Z., & Wang, L. (2024) · Clinical & Translational Oncology · doi:10.1007/s12094-024-03743-7 · Cited by 3
“Four molecular subgroups of EC include polymerase epsilon ultra-mutated, hypermutated microsatellite instability, copy-number high, and copy-number low [79, 80].”
The 2020 SGO Annual Meeting Report
Kim, K. H., Moore, K. N., Arend, R. C., et al. (2020) · Gynecologic Oncology · doi:10.1016/j.ygyno.2020.05.031 · Cited by 3
Whole-exome sequencing in cervical adenocarcinoma in mainland Chinese patients
Zhang, X., Guo, J. H., Cai, Y., & Sheng, X. (2020) · Translational Cancer Research · doi:10.21037/tcr-19-2930 · Cited by 4
“KRAS has been confirmed as the most commonly mutated oncogene, and approximately 30% of human malignancies could be detected with somatic mutations (8-12).”
BackgroundThe Impact of Racial Disparities on Outcome in Patients With Stage IIIC Endometrial Carcinoma
Patrich, T., Wang, Y., Elshaikh, M. A., et al. (2023) · American Journal of Clinical Oncology · doi:10.1097/coc.0000000000000975 · Cited by 3
“3 IIIC2 247 (36) 207 (35) 37 (41) — Histology Endometrioid 451 (66) 417 (71) 30 (33.”
Brown, M. A., Cato, L., & Jeselsohn, R. M. (2019) · Elsevier eBooks · doi:10.1016/b978-0-323-47912-7.00029-9 · Cited by 4
Genetic variation as a long-distance modulator of RAD21 expression in humans
Schierding, W. S., Horsfield, J. A., & O'Sullivan, J. M. (2022) · Scientific Reports · doi:10.1038/s41598-022-15081-1 · Cited by 2
Characteristics of a Plasma Synthetic Jet
Santhanakrishnan, A., Ramakumar, K., & Jacob, J. (2005) · Bulletin of the American Physical Society · Cited by 3
The double engines and single checkpoint theory of endometriosis
Hsu, C.-F., Khine, A. A., Huang, H.-S., & Chu, T.-Y. (2022) · doi:10.22541/au.164450638.85346134/v1 · Cited by 12
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The multifaceted functions of SPC25 in cancer: from molecular pathways to targeted therapy
Jin, Y., Chen, M., Chen, F., Gao, Z., Li, X., Hu, L., Cai, D., Zhao, S., & Song, Z. (2025) · Frontiers in Medicine · doi:10.3389/fmed.2025.1550901 · Cited by 2
Role of sentinel node mapping in endometrial cancer in 2025
Glaser, G. E., & Ostby, S. A. (2025) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/gco.0000000000001055 · Cited by 2
Latest advances in immuno-oncology for endometrial cancer: single-agent and combination regimens
Richardson, M. T., & Chase, D. M. (2023) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/gco.0000000000000917 · Cited by 2
Naiqiso, S. L. S., Moses, J., Tan, A. L., et al. (2024) · Australian and New Zealand Journal of Obstetrics and Gynaecology · doi:10.1111/ajo.13857 · Cited by 2
Importance of p53, bcl-2 genes in uterine body cancer and their role in prediction
Исраиловна, Т. Н., Atakhanova, N. E., Almuradova, D. M., Kobilov, O., & Abdinazarova, I. S. (2022) · International Journal of Health Sciences · doi:10.53730/ijhs.v6ns8.12898 · Cited by 2
“Proteins of the Bcl-2 family regulate apoptosis at the mitochondrial level (Levine, 2013).”
BackgroundResultSafta, I. B., Jaïdane, O., Mansouri, H., et al. (2018) · International Surgery Journal · doi:10.18203/2349-2902.isj20184640 · Cited by 2
“PLND N- 174 15 (2-74) N+ 21 10 (3-32) N+PL N-PA 5 15 (8-28) 14 (1-46) N+PL N+PA 6 20 (15-25) 15 (1-42) N-PL N+PA 6 18 (7-22) 4.”
Reflection on the current status of endometrial cancer in New Zealand
Henry, C. E., Filoche, S. K., Thunders, M. C., et al. (2019) · Australian and New Zealand Journal of Obstetrics and Gynaecology · doi:10.1111/ajo.13057 · Cited by 2
Kalincsák, J., Göcze, P., Bohonyi, N., et al. (2020) · Orvosi Hetilap · doi:10.1556/650.2020.31614 · Cited by 2
CD133 cells in endometrial cancer
Mleko, M., Pietrus, M., Duda-Wiewióra, M., et al. (2019) · Ginekologia Onkologiczna/Current Gynecologic Oncology · doi:10.15557/cgo.2019.0022 · Cited by 2
Laçin, Ş., Tasar, G. E., Usubutün, A., et al. (2021) · European Journal of Gynaecological Oncology · doi:10.31083/j.ejgo.2021.03.2287 · Cited by 2
“As more evidence accumulates about the molecular genetic alterations that contribute to endometrial tumorigenesis, heterogeneity observed in this dualistic model broadens [4].”
BackgroundEriksson, A. G. Z., & Mueller, J. J. (2021) · Current Opinion in Oncology · doi:10.1097/cco.0000000000000777 · Cited by 2
Zeiter, D., Vlajnic, T., Schötzau, A., et al. (2021) · Journal of Cancer · doi:10.7150/jca.59283 · Cited by 2
Integrating multi-omics data to identify dysregulated modules in endometrial cancer
Chen, Z., Liang, B., Wu, Y., et al. (2022) · Briefings in Functional Genomics · doi:10.1093/bfgp/elac010 · Cited by 2
Wei, H., Pan, N., Wang, Y., et al. (2023) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-023-07170-x · Cited by 2
“The introduction of molecular subtyping in endometrial cancer has significantly enriched our understanding of the disease, providing crucial insights for patient classification, accurate prognostic prediction, and the development of personalized treatment approaches [1, 2].”
BackgroundSun, X., Yao, X., Zeng, B., et al. (2023) · Annals of Nuclear Medicine · doi:10.1007/s12149-023-01869-2 · Cited by 2
Immune checkpoint inhibitors: here to stay
Carvalho, F. M., Estevez-Diz, M. D. P., & Carvalho, J. P. (2023) · Translational Cancer Research · doi:10.21037/tcr-23-1343 · Cited by 2
“…copy number alterations, and microsatellite instability (MSI) allowed the division of EC into four distinct prognostic molecular subtypes: DNA polymerase epsilon (POLE) (ultramutated) tumors, tumors with high MSI (MSI-H) (hypermutated), copy-number-low tumors, and copy-number-high tumors (5).”
BackgroundYoung, K. H. (2020) · Leukemia · doi:10.1038/s41375-020-0861-6 · Cited by 2
“With rapid development of Genome-Wide Association Studies (GWAS) and Data mining techniques [6, 7], it becomes possible to explore the story underlying T-LBL at the genetic level.”
BackgroundNovel Combinatorial Therapeutic Strategy to Overcome Gain-of-Function p53 MutationsPreprint
Meng, X., Yang, S., Li, Y., Li, Y., Bi, J., Wang, X., Umesalma, S., Devor, E. J., Thiel, K. W., Quelle, D. E., et al. (2018) · Preprints.org · doi:10.20944/preprints201805.0088.v1 · Cited by 2
Ironi, G., Mapelli, P., Bergamini, A., et al. (2021) · Research Square · doi:10.21203/rs.3.rs-630871/v1 · Cited by 2
Davila, J. I., Chanana, P., Sarangi, V., Fogarty, Z. C., Weroha, S. J., Guo, R., Goode, E., Huang, Y., & Chen, W. (2021) · Research Square · doi:10.21203/rs.3.rs-145368/v1 · Cited by 2
Gjorgoska, M., Taylor, A. E., Smrkolj, Š., & Rižner, T. L. (2025) · Cancers · doi:10.3390/cancers17101679 · Cited by 1
“The first three groups mostly include low-grade, clinically favorable endometrioid tumors, while TP53-alt tumors are typically high-grade endometrioid or serous with a higher risk of recurrence [4–6].”
Expression and clinical significance of RHCG in endometrial cancer.
Wang, H., Jin, H., & Zhao, S. (2024) · PubMed · doi:10.14670/hh-18-663 · Cited by 1
Kılıç, F., Ersak, B., Çakır, C., Yüksel, D., Kılıç, Ç., Korkmaz, V., Tokgözoğlu, N., Toptaş, T., Boran, N., Cömert, G. K., et al. (2023) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.15814 · Cited by 1
“” 6 In addition, it was determined that the p53 signature lesions or protein expression profiles seen in USC were similar to those seen in HGSOC.”
ResultChristensen, D., Ghafoor, M., Goldberg, A. F., et al. (2024) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000001028 · Cited by 1
“Endometrial carcinoma can now be categorized by molecular classi fi cation into 1 of 4 distinct genomic subgroups with unique prognoses: POLE ultramutated, hypermutated/microsatellite instability, copy number low/microsatellite stable, and copy number high/ serous-like tumors (5,6).”
Keyhanian, K., Busca, A., Howitt, B. E., Hammer, P. M., Kingsley, L. G., & Lo, B. (2025) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000002412 · Cited by 1
The Role of Surgery in Management of Primary Metastatic Endometrial Cancer
Hodge, T., McGauran, M., Jones, A., et al. (2025) · Asia-Pacific Journal of Clinical Oncology · doi:10.1111/ajco.14188 · Cited by 1
Mimoune, N., Azzouz, M., Benadjel, O., et al. (2021) · JOURNAL of SIBERIAN MEDICAL SCIENCES · doi:10.31549/2542-1174-2021-3-116-136 · Cited by 1
Metadata
- Authors
- The Cancer Genome Atlas Research Network, & Levine, D. A.
- Affiliations
- Memorial Sloan Kettering Cancer Center (US)
- Corresponding author
- Levine, Douglas A.
- ORCID
- Levine, Douglas A.
- Venue
- Nature
- Published
- 2013-05-01
- Volume
- 497
- Issue
- 7447
- Pages
- 67-73
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3704730
- OpenAlex
- W2041440766
- Cited by
- 5,784
- References
- 40
- Citations by year
- 2026: 467 · 2025: 580 · 2024: 559 · 2023: 595 · 2022: 591 · 2021: 572 · 2020: 455 · 2019: 384 · 2018: 320 · 2017: 328 · 2016: 313 · 2015: 285 · 2014: 231 · 2013: 96
- FWCI
- 345.78
- Type
- journal article
- Language
- en
- Update notices
- erratum (2013-06-12)
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Nature (publishedVersion, cc-by-nc-sa)
- PubMed Central (publishedVersion, cc-by-nc-sa)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- National Institutes of Health
- National Human Genome Research Institute (U54HG003067, U54HG003079, U54HG003273)
- National Cancer Institute (P50CA098258, U24CA143882, R01CA180006, U24CA143843, U24CA143840, U24CA143858, U24CA144025, U24CA143866, U24CA143883, U24CA143845, U24CA143867, U24CA143848, U24CA143799, U24CA143835, P30CA008748, P30CA016672, P30CA016056, P30CA016086)
- Topics
- Health Sciences › Medicine › Obstetrics and Gynecology › Endometrial and Cervical Cancer Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Keywords
- endometrial cancer, uterine serous carcinoma, endometrioid carcinoma, copy number alterations, TP53 mutation, POLE mutation, microsatellite instability, ARID5B, SWI/SNF chromatin remodeling, CTNNB1, PIK3CA, KRAS, PTEN, DNA methylation, oestrogen receptor, progesterone receptor, adjuvant therapy, genomic profiling
- MeSH terms
- Poly-ADP-Ribose Binding Proteins, Breast Neoplasms, Chromosome Aberrations, DNA Mutational Analysis, DNA Polymerase II, DNA-Binding Proteins, Female, Humans, Ovarian Neoplasms, Transcription Factors, Signal Transduction, Genome, Human, Gene Expression Regulation, Neoplastic, Endometrial Neoplasms, Genomics, DNA Copy Number Variations, Exome
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