Results 241 to 250 of about 123,315 (302)

A Novel Germline Mutation of BRCA1 and Integrated Analysis With Somatic Mutation in a Chinese Multi-Cancer Family. [PDF]

Oncologist
Yang X, Shang L, Yang L, Sun L, Tuo X, Ma S, Zhao L, Li X, Yang W.   +8 more
europepmc   +1 more source

Immune checkpoint inhibitor‐induced arrhythmias: Mechanistic insights from clinical and preclinical studies

British Journal of Pharmacology, EarlyView.
Immune checkpoint inhibitors (ICIs) have transformed cancer therapy, but their efficacy continues to be limited by immune‐related adverse events. Among these, ICI‐induced cardiac arrhythmias are increasingly recognised as a major adverse reaction, encompassing a broad spectrum of clinical phenotypes, including conduction blocks, atrial fibrillation and
Anand R. Ramalingam, Zoltán Márton Köhler, Péter Ferdinandy, Zoltán V. Varga   +3 more
wiley   +1 more source

The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation. [PDF]

BMC Pediatr
Yue X, Liu B, Han T, Guo D, Ding R, Wang G.   +5 more
europepmc   +1 more source

A novel JAK1 variant in chronic eosinophilic leukaemia with response to benralizumab

British Journal of Haematology, EarlyView.
Isabel C. Vallecillo‐Viejo, Michael D. Claiborne, Charles F. Anderson, Samantha Shafer, Alan Saven, Bryce A. Seifert, Morgan Similuk, Magdalena Walkiewicz, Irina Maric, Pia R. Crespo, Lori Broderick, Andrew A. White, Amy D. Klion   +12 more
wiley   +1 more source

Mutational Signature‐Based Biomarker for Phase II Trial of Olaparib Maintenance in Advanced High‐Grade Ovarian Cancer

Cancer Science, EarlyView.
A whole‐exome sequencing–based mutational signature biomarker (MSBM) identified an HRD‐enriched population in advanced ovarian cancer. In a phase II trial, olaparib maintenance suggested clinically meaningful PFS benefit without bevacizumab, supporting MSBM as a complementary HRD assessment approach.
Katsutoshi Oda, Daisuke Shintani, Akira Nishijima, Mayuyo Mori, Kazuyoshi Kato, Shoji Nagao, Noriomi Matsumura, Masahiro Kagabu, Masataka Takenaka, Kosuke Yoshihara, Yosuke Konno, Junzo Hamanishi, Sho Sato, Shiro Takamatsu, Keiko Ueda, Kosuke Kashiwabara, Takashi Aoki, Kunihiro Nishimura, Kenji Tatsuno, Hiroyuki Aburatani, Kosei Hasegawa   +20 more
wiley   +1 more source

Identification of a disease-associated germline mutation (A64T) of the ring finger protein 186 gene (<i>RNF186</i>) in Korean patients with ulcerative colitis. [PDF]

Genes Dis
Park SH, Won SY, Kim YC.
europepmc   +1 more source

Genetic Evolution in BRCA1‐Associated Breast Cancer Reveals Early Driver Mutations Shaping Tumor Features and Prognosis

Cancer Science, EarlyView.
Multi‐region sequencing of 57 BRCA1‐associated breast cancers identified TP53 as the dominant initial driver, defining a triple‐negative subgroup with biallelic BRCA1 loss and elevated genomic instability. TP53 truncating mutations were enriched in BRCA1 carriers and linked to reduced HRD, EMT activation, and a trend toward worse survival.
Li Hu, Zhongwu Li, Qiting Wan, Xingyu Liao, Yaxin Zhang, Qian Liu, Xinyun Ding, Hua Meng, Yifan Wu, Jie Sun, Juan Zhang, Lu Yao, Ye Xu, Yuntao Xie   +13 more
wiley   +1 more source

Epistasis between mutator alleles contributes to germline mutation spectrum variability in laboratory mice. [PDF]

Elife
Sasani TA, Quinlan AR, Harris K.
europepmc   +1 more source

Malignancy in Pediatric Hyperfunctioning Thyroid Nodules: A Case Report and Literature Review

Clinical Endocrinology, EarlyView.
ABSTRACT Background Thyroid nodules are rare in children but carry a markedly higher risk of malignancy compared to adults (20%–26% vs. 5%). Hyperfunctioning thyroid nodules are exceptionally uncommon in the pediatric population and are typically benign.
Cristina Clausi, Simona Censi, Jacopo Maria Arnone, Giulia Messina, Ilaria Piva, Fausto Cortese, Loris Bertazza, Susi Barollo, Francesca Galuppini, Marco Zarantonello, Maurizio Iacobone, Gianmaria Pennelli, Caterina Mian   +12 more
wiley   +1 more source

Successful Treatment with Sirolimus of a Patient with a Novel CARD11 Germline Mutation in B-Cell Expansion with Nuclear Factor Kappa B and T-Cell Anergy: Case Report and Literature Review. [PDF]

J Clin Immunol
Nishinosono T, Muramatsu H, Wakamatsu M, Yamashita D, Fukasawa T, Shirakawa Y, Sajiki D, Maemura R, Tsumura Y, Yamamori A, Narita K, Kataoka S, Narita A, Nishio N, Miyajima Y, Takahashi Y.   +15 more
europepmc   +1 more source