Results 11 to 20 of about 837,511 (259)

Characterizing somatic mutations in ovarian cancer germline risk regions [PDF]

Communications Biology
Epithelial ovarian cancer (EOC) genetics research has been focused on germline or somatic mutations independently. Emerging evidence suggests that the somatic mutational landscape can be shaped by the germline genetic background. In this study, we aim to
Ping-Hung Lai, Jonathan P. Tyrer, Paul Pharoah, Simon A. Gayther, Michelle R. Jones, Pei-Chen Peng   +5 more
doaj   +9 more sources

Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma [PDF]

BMC Cancer, 2018
Background Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal ...
K. G. Ewens, E. Lalonde, J. Richards-Yutz, C. L. Shields, A. Ganguly   +4 more
doaj   +2 more sources

Impacts of RNA Mobility Signals on Virus Induced Somatic and Germline Gene Editing

Frontiers in Genome Editing, 2022
Viral vectors are being engineered to deliver CRISPR/Cas9 components systemically in plants to induce somatic or heritable site-specific mutations. It is hypothesized that RNA mobility signals facilitate entry of viruses or single guide RNAs (sgRNAs ...
Bliss M. Beernink, Ryan R. Lappe, Melissa Bredow, Steven A. Whitham   +3 more
doaj   +1 more source

Similar response rates and survival with PARP inhibitors for patients with solid tumors harboring somatic versus Germline BRCA mutations: a Meta-analysis and systematic review

BMC Cancer, 2020
Background PARP inhibitors (PARPi) have recently been approved for various malignancies based on the results of several clinical trials. However, these trials have mostly recruited patients with germline BRCA mutations, and it is unclear whether PARPi ...
Ghulam Rehman Mohyuddin, Muhammad Aziz, Alec Britt, Lee Wade, Weijing Sun, Joaquina Baranda, Raed Al-Rajabi, Anwaar Saeed, Anup Kasi   +8 more
doaj   +1 more source

Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation

BMC Cancer, 2022
Background Increasing germline gene mutations have been discovered in haematological malignancies with the development of next-generation sequencing (NGS), which is critical for proper clinical management and long-term follow-up of affected individuals ...
Xia Wu, Jili Deng, Nanchen Zhang, Xiaoyan Liu, Xue Zheng, Tianyou Yan, Wu Ye, Yuping Gong   +7 more
doaj   +1 more source

Nuclear expression of Ku70/80 is associated with CHEK2 germline mutations in breast cancer

, 2023
Ku70/80 protein inhibitors reduce the repair of DNA double-strand breaks via the Ku70/80 pathway, so they can be used to treat cancers with Ku70/80 overexpression. Since the association of Ku70/80 with germline CHEK2 mutations in breast cancer is unknown,
Rosik Jakub, Machaj Filip, Bodnar Daniel, Paweł Domagała, Hybiak Jolanta, Lubiński Jan, Domagała Wenancjusz, Huzarski Tomasz, Cybulski Cezary   +8 more
core   +1 more source

Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients

BMC Cancer, 2020
Background Germline TP53 mutations are associated with Li-Fraumeni syndrome, a severe and rare hereditary cancer syndrome. Despite the rarity of germline TP53 mutations, the clinical implication for mutation carriers and their families is significant ...
Ava Kwong, Vivian Yvonne Shin, Cecilia Y. S. Ho, Chun Hang Au, Thomas P. Slavin, Jeffrey N. Weitzel, Tsun-Leung Chan, Edmond S. K. Ma   +7 more
doaj   +1 more source

Mutations of the ret protooncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype. [PDF]

, 1996
It has been suggested that not only the position but also the nature of the mutations of the ret protooncogene strongly correlate with the clinical manifestation of the multiple endocrine neoplasm type 2 (MEN 2) syndrome.
Rendl, J., Frank-Raue, K., Höppner, W., Haase, R., Mann, K., Deckart, H. F., Ritter, M. M., Frilling, A., Scholz, G. H., Dralle, H., Kirchner, R., Kotzerke, J., Klempa, J., Hampel, R., Raue, F., Seif, F.   +15 more
core   +1 more source

Legius Syndrome in Fourteen Families [PDF]

, 2010
Legius syndrome presents as an autosomal dominant condition characterized by café-au-lait macules with or without freckling and sometimes a Noonan-like appearance and/or learning difficulties.
Denayer, E, Legius, E, Eric Legius, Van Minkelen, R, Lakeman, P, Rick Van Minkelen, Beert, E, Van Spaendonck-Zwarts, KY, Van den Ouweland, AM, Spaendonck-Zwarts, KY, Brice, Glen, Ellen Denayer, Van den Ouweland, Ans Mw, Chmara, Magdalena, Bolder, A, Peltonen, Sirkku, van den Ouweland, Ans, Peltonen, S, Brice, G, Brems, H, Rankin, Julia, Bever, Yolande, Brems, Hilde, Julia Rankin, Kievit, Anneke Maat, Oostenbrink, Rianne, Eline Beert, Karin Y Van Spaendonck-Zwarts, van Bever, Yolande, Anneke Maat Kievit, Mangold, Elisabeth, Yolande van Bever, Lakeman, Phillis, Mori, T, Arja de Goede-Bolder, Ans MW Van den Ouweland, Phillis Lakeman, Sirkku Peltonen, Keymolen, Kathelijn, Magdalena Chmara, Ishizaki, Takuma, Mangold, E, Yoshimura, Akihiko, Beert, Eline, Keymolen, K, Legius, Eric, Kievit, AM, Glen Brice, Rianne Oostenbrink, de Goede-Bolder, A, Denayer, Ellen, Akihiko Yoshimura, Yoshimura, A, Jenneke Van den Ende, van Bever, Y, Van den Ende, J, de Goede-Bolder, Arja, Elisabeth Mangold, Takuma Ishizaki, Maat-Kievit, Anneke, Oostenbrink, R, Hilde Brems, Maat Kievit, A, Mori, Tomoaki, Tomoaki Mori, Chmara, M, Kathelijn Keymolen, Rankin, J, Ishizaki, T, et al., E. Denayer, Van den Ouweland, Ans M. W., Van Minkelen, Rick, Van Spaendonck-Zwarts, Karin Y., Van den Ende, Jenneke, van den Ouweland, Ans M.W., van Minckelen, Rick, de Goede, Arja, van Spaendonck, Karin Y.   +78 more
core   +1 more source

NLRP3-associated autoinflammatory diseases: phenotypic and molecular characteristics of germline versus somatic mutations [PDF]

, 2020
Background: NLRP3-associated autoinflammatory diseases (NLRP3-AIDs) include conditions of various severities, due to germline or somatic mosaic NLRP3 mutations. Objective: To identify mosaic- versus germline-specific NLRP3 mutations’ characteristics,
Awad, Fawaz, Piterboth, William, Copin, Bruno, Jumeau, Claire, Legendre, Marie, Karabina, Sonia A., Grateau, Gilles, Assrawi, Eman, Melki, Isabelle, Bourrat, Emmanuelle, Georgin-Lavialle, Sophie, Cador-Rousseau, Berengere, Lachaume, Noemie, Duquesnoy, Philippe, Giurgea, Irina, El Khouri, Elma, Louvrier, Camille, Amselem, Serge   +17 more
core   +3 more sources