Results 91 to 100 of about 116,502 (262)

Impact of BRCA1/2 germline mutation on the incidence of second primary cancer following postoperative radiotherapy in patients with triple-negative breast cancer

Zhongguo aizheng zazhi
Background and purpose: BRCA1/2 plays an important role in maintaining the genome stability. Whether BRCA1/2 germline mutation could increase the tumor sensitivity to radiotherapy, thereby inducing secondary primary cancer after radiotherapy is unclear ...
Xiaoyu HU, Yuwen CAI, Fugui YE, Zhimin SHAO, Weigang HU, Keda YU   +5 more
doaj  

FAMILIAL SAMD9L MUTATION WWTH VARIABLE CLINICAL PHENOTYPE OF MDS/AML MONOSOMY 7 AND APLASTIC ANEMIA: A CASE OF TWO AFFECTED SIBLINGS..

Leukemia Research Reports
Introduction: SAMD9L mutation has been associated with hematological malignancies. The mutation has diverse hematological phenotypes ranging from Myelodysplastic syndrome (MDS) to Acute myeloid leukemia (AML)involving chromosome 7 aberration and recently
K. Albiroty, A. Al Mughairy
doaj   +1 more source

CaMKIIδ Phosphorylates AUP1 to Promote Pancreatic Tissue Repair and Acinar‐to‐Ductal Metaplasia Formation via Mediating PERK‐Dependent Unfolded Protein Responses

Advanced Science, EarlyView.
CaMKIIδ–AUP1 signaling maintains PERK‐dependent ER homeostasis during ADM‐mediated pancreatic repair. ABSTRACT Pancreatic repair after acute pancreatitis (AP) is essential for restoring tissue integrity, but the intrinsic mechanisms coordinating acinar plasticity and regeneration remain poorly understood.
Yonghao Chen, Ziying Han, Zihan Yang, Jie Wu, Kaixin Peng, Xiuli Zhang, Bintao Qiu, Jianqiang Wu, Xiaomin Hu, Dong Wu, Li Wen   +10 more
wiley   +1 more source

Case Report: A novel germline donor splicing site mutation of RB1 gene in a Chinese Tibetan pedigree with familial retinoblastoma

Frontiers in Oncology
Retinoblastoma (RB) is the most common primary intraocular malignancy in children and mostly initiates with biallelic inactivation of the RB1 gene. Hereditary retinoblastoma accounts for 40% of all cases, with only 6%–10% of patients having a positive ...
Guo-qian He, Guo-qian He, Ying-chun Zheng, Lin-jun Tan, Lin-jun Tan, Cheng-qi Shen, Cheng-qi Shen, Ju Gao, Ju Gao, Fu Xiong, Xia Guo, Xia Guo   +11 more
doaj   +1 more source

Ischemic Postconditioning Protects Aged Myocardium Against Ischemia/Reperfusion Injury by Regulating Mitochondrial Dynamics via piR‐4913

Advanced Science, EarlyView.
A tiny RNA tips the scales of cardiac injury in aging. piR‐4913 recruits OGT to Drp1 and drives its O‐GlcNAcylation at Thr604, promoting excessive mitochondrial fission that aggravates ischemia‐reperfusion injury. Ischemic postconditioning silences this pathway to restore mitochondrial balance and protect the aged myocardium, revealing piR‐4913 as a ...
Xiangyu Zhao, Yanchun Li, Nan Li, Juan Zhang, Xiaolong Ma, Fei Yang, Ruihan Long, Yining Tian, Yichen Wang, Shengchao Ma, Huiping Zhang, Yideng Jiang   +11 more
wiley   +1 more source

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer

npj Breast Cancer
Germline mutations in BRCA1 and BRCA2 (gBRCA1/2) are required for a PARP inhibitor therapy in patients with HER2-negative (HER2−) advanced breast cancer (aBC).
Peter A. Fasching, Chunling Hu, Steven N. Hart, Matthias Ruebner, Eric C. Polley, Rohan D. Gnanaolivu, Andreas D. Hartkopf, Hanna Huebner, Wolfgang Janni, Peyman Hadji, Hans Tesch, Sabrina Uhrig, Johannes Ettl, Michael P. Lux, Diana Lüftner, Markus Wallwiener, Lena A. Wurmthaler, Chloë Goossens, Volkmar Müller, Matthias W. Beckmann, Alexander Hein, Daniel Anetsberger, Erik Belleville, Pauline Wimberger, Michael Untch, Arif B. Ekici, Hans-Christian Kolberg, Arndt Hartmann, Florin-Andrei Taran, Tanja N. Fehm, Diethelm Wallwiener, Sara Y. Brucker, Andreas Schneeweiss, Lothar Häberle, Fergus J. Couch   +34 more
doaj   +1 more source

Germline CDKN2A Mutations in Childhood Melanoma [PDF]

JNCI Journal of the National Cancer Institute, 1997
Whiteman, D. C., Milligan, A., Welch, J., Green, A. C., Hayward, N. K.   +4 more
openaire   +3 more sources

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population.

PLoS ONE, 2013
Research on hMLH1 and hMSH2 mutations tend to focus on Lynch syndrome (LS) and LS-like colorectal cancer (CRC). No studies to date have assessed the role of hMLH1 and hMSH2 genes in mass sporadic CRC (without preselection by MSI or early age of onset ...
Fulan Hu, Dandan Li, Yibaina Wang, Xiaoping Yao, Wencui Zhang, Jing Liang, Chunqing Lin, Jiaojiao Ren, Lin Zhu, Zhiwei Wu, Shuying Li, Ye Li, Xiaojuan Zhao, Binbin Cui, Xinshu Dong, Suli Tian, Yashuang Zhao   +16 more
doaj   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source