Results 251 to 260 of about 123,315 (302)

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Treatment-related neuroendocrine prostate cancer with BRCA2 germline mutation treated with olaparib. [PDF]

IJU Case Rep
Ikeda R, Matsuoka Y, Inoue M, Ishikawa A, Akagi K, Kageyama Y.   +5 more
europepmc   +1 more source

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

BRCA2 germline mutation in familial leukaemia with familial breast cancer: a case report. [PDF]

Ann Hematol
Wang J, Zhang H, Zhang R.
europepmc   +1 more source

TANC1::HTRA1 fusion in schwannomas

Brain Pathology, EarlyView.
Ilay Caliskan, Kanish Mirchia, Walter Patrick Devine, Melike Pekmezci   +3 more
wiley   +1 more source

The E‐cadherin‐Wnt‐mir‐994 Axis Repurposes a Cadherin Switch for Niche Robustness and Germline Stem Cell Maintenance

Cell Proliferation, EarlyView.
In the Drosophila ovarian niche, an E‐cadherin‐to‐N‐cadherin switch, mediated by Wnt‐mir‐994 signalling, is repurposed to ensure niche resilience. This compensatory mechanism maintains niche integrity and stem cell support upon E‐cadherin loss, revealing a robustness circuit.
Renjun Tu, Hiu Laam Yau, Runzhi Deng, Sarah E. Webb, Shiyuan Chen, Jianquan Ni, Ting Xie   +6 more
wiley   +1 more source

A 40‐year‐old woman with a spinal mass

Brain Pathology, EarlyView.
Melissa Mejia‐Bautista, Margarita Loxas, Pouya Jamshidi, Drew Duckett, Jean‐Paul Wolinsky, Jared T. Ahrendsen   +5 more
wiley   +1 more source

IL-27 Gene Therapy Ameliorates IPEX Syndrome Caused by Germline Mutation of Foxp3 Gene: A Major Role for Induction of IL-10. [PDF]

J Immunol
Liu JQ, Jabbari A, Lin CH, Akkanapally V, Frankel WL, Basu S, He K, Zheng P, Liu Y, Bai XF.   +9 more
europepmc   +1 more source

Papillary Tumor of the Pineal Region Identified by DNA Methylation Leads to the Incidental Finding of Germline Mutation <i>PTEN G132D</i> Associated with PTEN Hamartoma Tumor Syndrome: A Case Report and Systematic Review. [PDF]

Curr Oncol
O'Neal N, Goold E, Zarei Haji Abadi F, Okojie J, Barrott J.   +4 more
europepmc   +1 more source