Results 31 to 40 of about 13,351 (224)

Germline mutations and blood malignancy (Review)

Oncology Reports, 2020
Germline mutations are congenital genetic mutations in germ cells that originate from sperm or ovum and are generally incorporated into every cell of the offspring's body. Somatic mutations are acquired genetic mutations that form under the influence of environmental factors during embryo formation and epigenetic development.
Yuping Gong, Xia Wu, Jili Deng
openaire   +4 more sources

Germline Mutations and Their Clinical Applications in Cancer [PDF]

Breast Cancer Management, 2019
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Edwin Wang, Edwin Wang, Jean-Sébastien Milanese   +2 more
openaire   +2 more sources

Cornelia de Lange syndrome and cancer: An open question

, 2023
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 292-295, January 2023.
Maria M. Pallotta, Maddalena Di Nardo, Raoul C. M. Hennekam, Frank J. Kaiser, Ilaria Parenti, Juan Pié, Feliciano J. Ramos, Antonie D. Kline, Antonio Musio   +8 more
wiley   +1 more source

Copy-number-variation and copy-number-alteration region detection by cumulative plots [PDF]

BMC Bioinformatics, 10(suppl 1):S67 (2009), 2009
Background: Regions with copy number variations (in germline cells) or copy number alteration (in somatic cells) are of great interest for human disease gene mapping and cancer studies. They represent a new type of mutation and are larger-scaled than the single nucleotide polymorphisms.
arxiv   +1 more source

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022
Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia, Yoko Aoki, Bruce D. Gelb   +2 more
wiley   +1 more source

The mutational landscape of human somatic and germline cells [PDF]

Yearbook of Paediatric Endocrinology, 2020
AbstractDuring the course of a lifetime normal human cells accumulate mutations. Here, using multiple samples from the same individuals we compared the mutational landscape in 29 anatomical structures from soma and the germline. Two ubiquitous mutational signatures, SBS1 and SBS5/40, accounted for the majority of acquired mutations in most cell types ...
Yvette Hooks, Ayesha Noorani, Christine A. Iacobuzio-Donahue, Mette Jorgensen, Michael R. Stratton, Ruben van Boxtel, Mabel J Teng, Inigo Martincorena, Luiza Moore, Luiza Moore, Thomas R. W. Oliver, Thomas R. W. Oliver, Thomas J. Mitchell, Thomas J. Mitchell, Rashesh Sanghvi, Peter R. Ellis, Rebecca C. Fitzgerald, Raheleh Rahbari, Mathijs A. Sanders, Mathijs A. Sanders, Matthew D. C. Neville, Tim H. H. Coorens, Alex Cagan, Calli Latimer, Kevin J. Dawson, Andrew Menzies, Tim Butler, Peter J. Campbell, Laura O’Neill, Anne Y. Warren, Daniel Leongamornlert, Rakesh Heer, Rakesh Heer   +32 more
openaire   +4 more sources

Clinical overview on RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source

Germline PHOX2B Mutation in Hereditary Neuroblastoma [PDF]

The American Journal of Human Genetics, 2004
To the Editor: We read with interest the study by Trochet and colleagues (2004), published in the April 2004 issue of The American Journal of Human Genetics, that described germline mutations of the paired-like homeobox 2B gene (PHOX2B [MIM 603851]) in neuroblastoma (MIM 256700).
Alex J. Carlisle, John M. Maris, John M. Maris, Deepa Khazi, Marci Laudenslager, Yael P. Mosse, Eric F. Rappaport, Cynthia Winter   +7 more
openaire   +2 more sources

Clinical applications of next‐generation sequencing‐based ctDNA analyses in breast cancer: defining treatment targets and dynamic changes during disease progression

Molecular Oncology, EarlyView.
Circulating tumor DNA (ctDNA) offers a possibility for different applications in early and late stage breast cancer management. In early breast cancer tumor informed approaches are increasingly used for detecting molecular residual disease (MRD) and early recurrence. In advanced stage, ctDNA provides a possibility for monitoring disease progression and
Eva Valentina Klocker, Samantha Hasenleithner, Rupert Bartsch, Simon P. Gampenrieder, Daniel Egle, Christian F. Singer, Gabriel Rinnerthaler, Michael Hubalek, Katja Schmitz, Zsuzsanna Bago‐Horvath, Andreas Petzer, Sonja Heibl, Ellen Heitzer, Marija Balic, Michael Gnant   +14 more
wiley   +1 more source

Circulating tumor DNA (ctDNA) trajectories predict survival in trifluridine/tipiracil‐treated metastatic colorectal cancer patients

Molecular Oncology, EarlyView.
The authors applied joint/mixed models that predict mortality of trifluridine/tipiracil‐treated metastatic colorectal cancer patients based on circulating tumor DNA (ctDNA) trajectories. Patients at high risk of death could be spared aggressive therapy with the prospect of a higher quality of life in their remaining lifetime, whereas patients with a ...
Matthias Unseld, Stefan Kühberger, Ricarda Graf, Christine Beichler, Markus Braun, Nadia Dandachi, Ellen Heitzer, Gerald W. Prager   +7 more
wiley   +1 more source