Mutation News and Research

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UF Health Cancer Center — Orlando Health opens Cancer Genetics Center

Patients at high risk for cancer will now have access to their own specialized center with a dedicated oncologist, nurse practitioner and genetic counselor to assist them with their unique health needs.

10 Sep 2015

A new approach to prevent breast and ovarian cancer

Surgery to remove the breasts of women at increased risk of developing breast cancer may not be necessary in the future, according to research published in EBioMedicine.

10 Sep 2015

Cortical hyperexcitability has a driving role in ALS

Cortical hyperexcitability is an intrinsic feature of amyotrophic lateral sclerosis symptoms in patients carrying the chromosome 9 open reading frame 72 gene hexanucleotide repeat expansion, show study findings.

9 Sep 2015

Nearly 50% of testicular cancer risk passed down genetically, new study reports

Almost half of the risk of developing testicular cancer comes from the DNA passed down from our parents, a new study reports.

9 Sep 2015

UCSF researchers lead $10 million research project on pediatric cancer

Researchers at UC San Francisco are leading a five-year, $10 million research project dedicated to pediatric cancer, funded by the first grant of its kind to focus on a molecular pathway that underlies many cancers rather than on a cancer in a particular organ or tissue in the body.

9 Sep 2015

AstraZeneca presents lung cancer research data at WCLC 2015

Data will be reported from across AstraZeneca’s industry-leading lung cancer portfolio at the World Conference on Lung Cancer 2015, beginning this weekend in Denver, Colorado.

8 Sep 2015

Desmoplasmic melanoma may possess unprecedented burden of gene mutations, say UCSF scientists

A rare, deadly form of skin cancer known as desmoplasmic melanoma (DM) may possess the highest burden of gene mutations of any cancer, suggesting that immunotherapy may be a promising approach for treatment, according to an international team led by UC San Francisco scientists. One of these mutations, never before observed in any cancer, may shield nascent DM tumors from destruction by the immune system and allow further mutations to develop.

7 Sep 2015

UCLA study questions value of BRCA genetic testing in general population

Women who are carriers of mutated BRCA genes are known to have a significantly higher risk for developing breast and ovarian cancers than those who don't have the mutations.

4 Sep 2015

Researchers document accuracy of new tests for rapid diagnosis of drug-resistant forms of TB

Researchers at University of California, San Diego School of Medicine have documented the accuracy of three new tests for more rapidly diagnosing drug-resistant forms of tuberculosis (TB), which are much harder and more expensive to treat and which, experts say, represent a major threat to global public health.

4 Sep 2015

RAB35 protein plays role in oncogenic process

A protein known to play a role in transporting the molecular contents of normal cells into and out of various intracellular compartments can also turn such cells cancerous by stimulating a key growth-control pathway.

4 Sep 2015

Mel18 protein regulates development of heart muscle

It is arguably the hardest working muscle in our body and without its incessant, regular beating our organs would be starved of life-giving nutrients.

4 Sep 2015

New technology may allow mass production of flu vaccines

Vaccines to protect against an avian influenza pandemic as well as seasonal flu may be mass produced more quickly and efficiently using technology described today (Sept. 2) by researchers at the University of Wisconsin-Madison in the journal Nature Communications.

3 Sep 2015

Cells expressing faulty CFTR channel to TNF-α can 'fix' cystic fibrosis cells

Scientific experiments examining what happens to the faulty channel protein that causes cystic fibrosis during inflammation have yielded unexpected and exciting results. The study, conducted by Sara Bitam and her colleagues at INSERM in France, has just passed peer review on open science publishing platform F1000Research.

3 Sep 2015

Scientists identify new mechanism for severe early infant epilepsy

Scientists at Karolinska Institutet and Karolinska University Hospital in Sweden have discovered a new explanation for severe early infant epilepsy. Mutations in the gene encoding the protein KCC2 can cause the disease, hereby confirming an earlier theory.

3 Sep 2015

Imetelstat drug shows promise in treating patients with myelofibrosis

Imetelstat, a novel drug that targets telomerase, has demonstrated potential value in treating patients with myelofibrosis, according to the results of a study published today in the New England Journal of Medicine.

3 Sep 2015

Study reveals new epigenetic mechanism underlying progression of cancer tumors

Aggressive cancer growth and alterations in gene activity without changes in DNA sequence (epigenetics) are associated with mutant p53 proteins, according to new research from the Perelman School of Medicine at the University of Pennsylvania.

3 Sep 2015

New study suggests potential use of targeted therapies for two subtypes of esophageal cancer

Nearly all advanced esophageal cancers harbor genetic mutations that can be targeted with emerging drug therapies, according to a new study published in The Oncologist on September 2, 2015.

3 Sep 2015

Study reveals presence of new genetic mutation in melanoma cancer cells

There is strong evidence that the protein complex APC/C may function as a tumor suppressor in multiple cancers including lymphoma, colorectal and breast cancer, and now melanoma. A new study has revealed that a genetic mutation leading to repression of a specific protein, Cdh1, which interacts with APC/C, is present in melanoma cancer cells.

3 Sep 2015

Huntington’s disease prevention breakthrough? An interview with Professor Lesley Jones

Huntington’s disease is an inherited disease which, whilst quite rare, is one of the more common inherited neurodegenerative diseases. About 1 in 6,000 people in the UK are at risk and what’s horrible about this disease is that if one of your parents has it, then you have a fifty-fifty chance of inheriting it.

2 Sep 2015

UC Santa Barbara neuroscientists uncover mechanism of Alzheimer's progression

Medical research has yet to discover an Alzheimer's treatment that effectively slows the disease's progression, but neuroscientists at UC Santa Barbara may have uncovered a mechanism by which onset can be delayed by as much as 10 years.

2 Sep 2015