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Channel: Medical Xpress news tagged with:germline mutations
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Women with certain type of ovarian cancer and BRCA gene mutation have...

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...

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Most mutations come from dad

Humans inherit more than three times as many mutations from their fathers as from their mothers, and mutation rates increase with the father's age but not the mother's, researchers have found in the...

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Cancer researchers discover gene defect responsible for cancer syndrome

University of Hawai'i Cancer Center researchers have discovered germline BAP1 mutations are associated with a novel cancer syndrome characterized by malignant mesothelioma, uveal melanoma, cutaneous...

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Genomic 'hotspots' offer clues to causes of autism, other disorders

An international team, led by researchers from the University of California, San Diego School of Medicine, has discovered that "random" mutations in the genome are not quite so random after all. Their...

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Mutua Madrileña funds IDIBELL and ICO project to improve diagnosis of...

The Fundación Mutua Madrileña, in its 10th Call for Aids to Research, has selected a project to improve the diagnosis of Lynch syndrome led by researcher Marta Pineda, from the Hereditary Cancer...

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BRCAPRO model underestimates BRCA1/2 mutation risk

(HealthDay)—Use of the BRCAPRO model for assessment of the likelihood of having a germline BRCA1/BRCA2 mutation, based on age, ethnicity, and family history, may underestimate the risk of mutations,...

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New genetic syndrome found, tied to errors in 'master switch' during early...

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...

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Tumor sequencing study highlights benefits of profiling healthy tissue as well

As the practice of genetically profiling patient tumors for clinical treatment decision making becomes more commonplace, a recent study from The University of Texas MD Anderson Cancer Center suggests...

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Genetic makeup may make radiation riskier for pediatric cancer patients

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...

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New study suggests more than 8 percent of children with cancer have genetic...

The most detailed analysis yet of the role germline mutations in genes associated with cancer predisposition play in the development of childhood cancer suggests that comprehensive genomic screening...

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Researchers develop powerful interactive tool to mine data from cancer genome

St. Jude Children's Research Hospital scientists have developed a web application and data set that gives researchers worldwide a powerful interactive tool to advance understanding of the mutations...

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New cancer type with PIK3CA mutations

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...

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For children with brain tumors, next-generation sequencing may lead to...

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...

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Inherited mutations in three genes predict for aggressive prostate cancer

A study of three genes associated with the development of prostate cancer found that men with inherited mutations in these genes are more likely to develop aggressive forms of the disease and die from...

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Study finds more childhood cancer survivors would likely benefit from genetic...

Twelve percent of childhood cancer survivors carry germline mutations that put them or their children at increased risk of developing cancer, according to a landmark study presented today at the annual...

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Researchers propose new approach to identify genetic mutations in men with...

Scientists have had limited success at identifying specific inherited genes associated with prostate cancer, despite the fact that it is one of the most common non-skin cancers among men. Researchers...

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Comprehensive genomic analysis offers insights into causes of Wilms tumor...

A comprehensive genomic analysis of Wilms tumor - the most common kidney cancer in children - found genetic mutations involving a large number of genes that fall into two major categories. These...

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Searching for the 'signature' causes of BRCAness in breast cancer

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...

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Retaining one normal BRCA gene in breast, ovarian cancers influences patient...

Determining which cancer patients are likely to be resistant to initial treatment is a major research effort of oncologists and laboratory scientists. Now, ascertaining who might fall into that...

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