Schizophrenia is a neurodevelopmental disorder that disrupts brain activity producing hallucinations, delusions, and other cognitive disturbances. Researchers have long searched for genetic influences in the disease, but ...
Mar 9, 2021
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Analyzing a puzzling multisystem disorder in three children, genetic experts have identified a new syndrome, shedding light on key biological processes during human development. The research also provides important information ...
Mar 2, 2015
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Among women with invasive epithelial ovarian cancer, patients having a germline (gene change in a reproductive cell that could be passed to offspring) mutation in the BRCA1 or BRCA2 genes was associated with improved 5-year ...
Jan 24, 2012
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Genetic vulnerabilities associated with childhood cancers may make children undergoing radiation therapy more susceptible than adults to secondary cancers, according to novel insights from researchers at UC San Francisco.
Sep 4, 2015
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Breast cancer cells with defects in the DNA damage repair-genes BRCA1 and BRCA2 have a mutational signature (a pattern of base swaps—e.g., Ts for Gs, Cs for As—throughout a genome) known in cancer genomics as "Signature ...
Aug 21, 2017
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Researchers from Karolinska Institutet have analyzed blood and sperm samples from healthy parents to children with genetic syndromes and the results indicate that germline mosaicism is underestimated as a cause to syndromes ...
Feb 17, 2022
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A study presented today by Dr. Nobuyuki Takahashi of the Center for Cancer Research (CCR), National Cancer Institute (NCI), Bethesda, Md. at the IASLC World Conference on Lung Cancer Singapore demonstrates that small cell ...
Jan 27, 2021
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A newly defined type of colorectal and endometrial cancer involves at least two somatic mutations in the mismatch repair genes (MMR): MLH1, MSH2, MSH6, PMS2. This double somatic MMR cancer has no germline mutations in the ...
Aug 16, 2016
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Next-generation sequencing for patients at UCSF Medical Center is prompting changes in brain tumor diagnoses for some children and a retooling of treatment plans in many cases. Sequencing is also providing valuable insights ...
Nov 16, 2016
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Recently, a research group from Hefei Institutes of Physical Science (HFIPS) of Chinese Academy of Sciences (CAS) and The Second Hospital of Anhui Medical University dissected, for the first time, the somatic mutation profile ...
May 4, 2023
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