Results 51 to 60 of about 114,676 (292)

Hereditary oral squamous cell carcinoma associated with CDKN2A germline mutation: a case report

Journal of Otolaryngology - Head and Neck Surgery, 2022
Background Germline CDKN2A mutations are a well-known cause of familial atypical multiple mole melanoma (OMIM #155601) and melanoma-pancreatic cancer syndrome (OMIM #606719).
Ah-Reum Jeong, Kimberly Forbes, Ryan K. Orosco, Ezra E. W. Cohen   +3 more
doaj   +1 more source

Identification of the Unique Clinical and Genetic Features of Chinese Lung Cancer Patients With EGFR Germline Mutations in a Large-Scale Retrospective Study

Frontiers in Oncology, 2021
BackgroundEpidemiological surveys have suggested that lung cancer has inherited susceptibility and shows familial aggregation. However, the distribution and prevalence of epidermal growth factor receptor (EGFR) germline variants and their roles in lung ...
Xinqing Lin, Muyun Peng, Quanfang Chen, Mingming Yuan, Rongrong Chen, Haiyi Deng, Jiaxi Deng, Ouqi Liu, Yuqing Weng, Mingjiu Chen, Chengzhi Zhou   +10 more
doaj   +1 more source

Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo‐ECAG) ovarian study [PDF]

, 2022
Hikmat Abdel‐Razeq, Khansa Al‐Azzam, Shatha Elemian, Hala Abu‐Fares, Areej Abu Sheikha, Hira Bani Hani, Rayan Bater, Baha’ Sharaf, Brandie Heald, Edward D. Esplin, Sarah M. Nielsen, Mais Alkyam, Lama Abujamous, Areej Al‐Attary   +13 more
openalex   +1 more source

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

Molecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice, Jose I. Lopez, Aitziber Ugalde‐Olano, Maite Zufiaurre, Ianire Astobiza, Natalia Martin‐Martin, Laura Bozal‐Basterra, Saioa Garcia‐Longarte, Amaia Zabala‐Letona, Sofia Rey, Aida Santos‐Martin, Miguel Unda, Ana Loizaga‐Iriarte, Mariona Graupera, Paolo Nuciforo, Arkaitz Carracedo, Isabel Mendizabal   +16 more
wiley   +1 more source

Correction to: Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China [PDF]

, 2021
Min Zhang, Tianhui Chen
openalex   +1 more source

Monitoring of circulating tumor DNA allows early detection of disease relapse in patients with operable breast cancer

Molecular Oncology, EarlyView.
Monitoring circulating tumor DNA (ctDNA) in patients with operable breast cancer can reveal disease relapse earlier than radiology in a subset of patients. The failure to detect ctDNA in some patients with recurrent disease suggests that ctDNA could serve as a supplement to other monitoring approaches.
Kristin Løge Aanestad, Marie Austdal, Oddmund Nordgård, Gunnar Mellgren, Satu Oltedal, Marie L. Austbø, Ylva H. Vignes, Thomas Helland, Kristin Jonsdottir, Tone H. Lende, Emilius A. M. Janssen, Bjørnar Gilje, Kjersti Tjensvoll, PBCB study group, Gunnar Mellgren, Tone Hoel Lende, Anette Heie, Kristin Viste, Anita Røyneberg Alvheim, Emiel AM Janssen, Kristin Jonsdottir, Ann Cathrine Kroksveen, Thomas Helland, Einar Gudlaugsson, Oddmund Nordgård, Satu Oltedal, Kristin Løge Aanestad, Jan Terje Kvaløy, Kirsten Lode, Kari Britt Hagen, Marie Austdal, Ylva H. Vignes, Siri Tungland Sola, Nina Egeland Amundsen, Finn Magnus Eliassen, Emeritus Ernst A Lien   +35 more
wiley   +1 more source

Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With a Germline DDX41 Mutation

Case Reports in Hematology
According to the 2016 World Health Organization classification, a germline DEAD-box helicase 41 gene (DDX41) mutation with myeloid neoplasms has been newly classified. The clinical course of acute myeloid leukemia (AML) with a germline DDX41 mutation has
Shuro Yoshida, Yuichiro Semba, Shuichiro Takashima, Masanori Kadowaki, Ken Takase, Takahiro Maeda, Koichi Akashi, Hiromi Iwasaki   +7 more
doaj   +1 more source

Case report: Germline CHEK2 mutation is associated with a giant cell glioblastoma

Frontiers in Oncology
Giant cell glioblastoma often exhibits genome instability and is frequently associated with mutations in genes involved in DNA repair pathways including TP53 and DNA mismatch repair genes.
Yongfeng Bi, Dong Wan, Dong Wan, Si Chen, Si Chen, Huafei Chen, Huafei Chen, Lingchuan Guo, Lingchuan Guo, Xiaoshun He, Rong Rong, Jinyuan Xiao, Wei Gao, Sheng Xiao   +13 more
doaj   +1 more source

Genomic stability of mouse spermatogonial stem cells in vitro

Scientific Reports, 2021
Germline mutations underlie genetic diversity and species evolution. Previous studies have assessed the theoretical mutation rates and spectra in germ cells mostly by analyzing genetic markers and reporter genes in populations and pedigrees.
Shinichiro Chuma, Mito Kanatsu-Shinohara, Ami Katanaya, Mihoko Hosokawa, Takashi Shinohara   +4 more
doaj   +1 more source

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +1 more source