Germline 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

Incorporating clinical genomic sequencing data into clinical management improves pediatric cancer treatment

In a study that included children and young adults with relapsed or refractory cancer, incorporation of integrative clinical genomic sequencing data into clinical management was feasible, revealed potentially actionable findings in nearly half of the patients, and was associated with change in treatment and family genetics counseling for a small proportion of patients, according to a study in the September 1 issue of JAMA.

2 Sep 2015

Obesity raises Lynch syndrome CRC risk

Obesity increases the risk of colorectal cancer in patients with Lynch syndrome, research indicates, but daily aspirin use may combat this excess risk.

27 Aug 2015

New study describes multi-method strategy to improve detection of PMS2 gene mutations in Lynch syndrome

About 3% of colorectal cancers are due to Lynch syndrome, an inherited cancer susceptibility syndrome that predisposes individuals to various cancers. Close blood relatives of patients with Lynch syndrome have a 50% chance of inheritance. The role that PMS2 genetic mutations play in Lynch syndrome has been underestimated in part due to technological limitations.

27 Aug 2015

New research finds five different types of prostate cancer

New research has revealed that five different types of prostate cancer exist. How will this discovery change the outlook of prostate cancer screening? World renowned robotic prostate cancer surgeon, Dr. David Samadi, evaluates.

25 Aug 2015

Dr. Sharma receives research award from ASCO to continue study on triple-negative breast cancer

Dr. Sharma was awarded the 2015 Advanced Clinical Research Award in Breast Cancer from the American Society of Clinical Oncology to continue her research on triple-negative breast cancer.

25 Aug 2015

BRCA gene mutations and ovarian cancer: an interview with Dr Matulonis, Harvard Medical School

The BRCA gene encodes for the BRCA proteins, BRCA1 and BRCA2. These proteins are very important in repairing DNA, which they do by correcting double-stranded breaks.

2 Aug 2015

LMU researchers reveal role of mutations in development of Ewing's sarcoma

Researchers from Ludwig-Maximilians-Universitaet in Munich have elucidated at the molecular level how an otherwise innocuous inherited mutation that is quite common in European populations interacts with a spontaneous somatic mutation to promote the development of Ewing's sarcoma.

28 Jul 2015

Recipients of GSA poster awards announced at 20th International C. elegans Meeting

The Genetics Society of America and the C. elegans research community are pleased to announce the recipients of the GSA poster awards at the 20th International C. elegans Meeting, which took place at the University of California, Los Angeles, June 24-28, 2015.

28 Jul 2015

NeoGenomics announces launch of new germline cancer predisposition testing services

NeoGenomics, Inc., a leading provider of cancer-focused genetic testing services, announced today the launch of a new line of germline cancer predisposition testing services. The new tests include comprehensive testing for BRCA1 and BRCA2 encompassing an analysis of all exons and adjacent intronic regions.

20 Jul 2015

Researchers identify link between hormonal factors and endometrial cancer risk among women with Lynch syndrome

For women with Lynch syndrome, an association was found between the risk of endometrial cancer and the age of first menstrual cycle, having given birth, and hormonal contraceptive use, according to a study in the July 7 issue of JAMA. Lynch syndrome is a genetic condition that increases the risk for various cancers.

8 Jul 2015

Study supports need for diagnostic analysis of germline and tumor biomarker information

A core tenet of precision medicine is that predictive biomarkers can enhance therapeutic decision-making. In a new pilot study, scientists at Molecular Health analyzed a randomly selected set of 250 patients with solid tumors and detected predictive biomarkers in more than 85% of tumors.

30 Jun 2015

New species of tRNA-derived small RNAs contribute to cell proliferation in cancer

Since their discovery in the 1950s, transfer RNAs (tRNAs) have been best known for their role in helping the cell make proteins from messenger RNA templates. However, recent studies have led to a previously-unsuspected concept that tRNAs are not always the end product; namely, they further serve as a source of small RNAs.

30 Jun 2015

Scientists examine rates of secondary mutations in biomarker genes

Many tests for predictive biomarkers in tumors focus on selected known mutations or regions (e.g. hotspot panels). In a new study, scientists at Molecular Health examined the rates of secondary mutations in known biomarker genes and their potential impact on the diagnostic reliability of specific single-nucleotide variant (SNV) biomarker testing.

29 Jun 2015

Researchers track down key gene mutation responsible for causing acute lymphoblastic leukemia

Two medical researchers from the Children's Hospital of Michigan and the Wayne State University School of Medicine have published the results of a nearly 10-year investigation that identified a key gene mutation that can trigger acute lymphoblastic leukemia, or ALL, and several other types of cancer.

18 Jun 2015

Researchers reveal that 6.5% of de novo genetic mutations occur during embryonic development

Until now, de novo genetic mutations, alterations in a gene found for the first time in one family member, were believed to be mainly the result of new mutations in the sperm or eggs (germline) of one of the parents and passed on to their child.

7 Jun 2015

PGDx introduces ImmunoSelect-R service to support development of immuno-oncology cancer therapies

Personal Genome Diagnostics, Inc., a provider of advanced cancer genome analysis and testing services, today announced the launch of its ImmunoSelect-R service designed to identify mutant neoantigens and support development of immuno-oncology cancer therapies.

1 Jun 2015

Myriad Genetics to highlight new clinical studies on myRisk Hereditary Cancer test at ASCO 2015

Myriad Genetics, Inc. today announced it will highlight several new clinical studies on its myRisk Hereditary Cancer molecular diagnostic test at the 2015 American Society of Clinical Oncology annual meeting being held in Chicago, Ill.

30 May 2015

SNPs predict sunitinib outcome in mRCC

Research has confirmed that single nucleotide polymorphisms in genes related to the processing of sunitinib influence the outcome of treatment for metastatic renal cell carcinoma.

29 May 2015

NAS, NAM launch major initiative to guide decision making on human gene-editing research

The National Academy of Sciences and the National Academy of Medicine are launching a major initiative to guide decision making about controversial new research involving human gene editing. Human gene-editing technologies, such as CRISPR-Cas9, may lead to promising new treatments for disease.

19 May 2015