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A single-letter change in the genetic code is enough to generate blond hair in humans, in dramatic contrast to our dark-haired ancestors. A new analysis by Howard Hughes Medical Institute (HHMI) scientists has pinpointed that change, which is common in the genomes of Northern Europeans, and shown how it fine-tunes the regulation of an essential gene.

Around a quarter of smokers who carry a defect in the BRCA2 gene will develop lung cancer at some point in their lifetime, a large-scale, international study reveals.

Scientists announce a previously unknown link between lung cancer and a particular BRCA2 defect, occurring in around 2 per cent of the population, in research published in Nature Genetics today (Sunday).

The defect in BRCA2 - best known for its role in breast cancer - increases the risk of developing lung cancer by about 1.8 times.

HOUSTON – (June 1, 2014) – Baylor College of Medicine scientists defined a previously unrecognized genetic cause for two types of birth defects found in newborn boys, described in a report published today in the journal Nature Medicine.

HOUSTON -- (June 1, 2014) -- The first preclinical study of a new Rice University-developed anti-cancer technology found that a novel combination of existing clinical treatments can instantaneously detect and kill only cancer cells -- often by blowing them apart -- without harming surrounding normal organs. The research, which is available online this week Nature Medicine, reports that Rice's "quadrapeutics" technology was 17 times more efficient than conventional chemoradiation therapy against aggressive, drug-resistant head and neck tumors.

Researchers from the Spanish National Research Council (CSIC) have developed a software based on the discovery of some algorithms that enable the identification of each individual, therefore allowing their tracking within the group. Thus, the door opens to the quantitative study of the rules of social interaction for many species. The work has been published in the Nature Methods journal.

The combined action of two enzymes, Srs2 and Exo1, prevents and repairs common genetic mutations in growing yeast cells, according to a new study led by scientists at NYU Langone Medical Center.

STANFORD, Calif. — A molecule critical to stem cell function plays a major role in determining human hair color, according to a study from the Stanford University School of Medicine.

The study describes for the first time the molecular basis for one of our most noticeable traits. It also outlines how tiny DNA changes can reverberate through our genome in ways that may affect evolution, migration and even human history.

A UCLA research team has discovered a new hormone called erythroferrone, which regulates the iron supply needed for red blood-cell production.

Iron is an essential functional component of hemoglobin, the molecule that transports oxygen throughout the body. Using a mouse model, researchers found that erythroferrone is made by red blood-cell progenitors in the bone marrow in order to match iron supply with the demands of red blood-cell production. Erythroferrone is greatly increased when red blood-cell production is stimulated, such as after bleeding or in response to anemia.

As targeted therapies become more available, increasing opportunity exists to match treatments to the genetics of a specific cancer. But in order to make this match, oncologists have to know these genetics. This requires molecular testing of patient samples. An education session presented today at the American Society for Clinical Oncology (ASCO) Annual Meeting 2014 details the challenges in this process and makes recommendations that oncologists can use to ensure their patients' samples are properly tested, helping to pair patients with the best possible treatments.

ATLANTA – June 1, 2014 – The number of cancer survivors in the United States, currently estimated to be 14.5 million, will grow to almost 19 million by 2024, according to an updated report by the American Cancer Society. The second edition of Cancer Treatment & Survivorship Facts & Figures, 2014-2015 and an accompanying journal article published in CA: A Cancer Journal for Clinicians find that even though cancer incidence rates have been decreasing for ten years, the number of cancer survivors is growing.

CHICAGO — June 1, 2014 — In the largest clinical trial testing the effectiveness of one versus two drugs to treat HER2-positive breast cancer, lapatinib (Tykerb) did not add benefit to the standard trastuzumab (Herceptin) adjuvant therapy, researchers report at the 50th annual meeting of the American Society of Clinical Oncology (ASCO).

MULTIMEDIA ALERT: Video and audio are available for download on the Mayo Clinic News Network.

New research presented at this year's Euroanaesthesia show that on weekends, in the afternoons and in February are the times when the risk of death following surgery is the highest. The research is by Dr Felix Kork and Professor Claudia Spies, Charité - University Medicine Berlin, Germany and colleagues.

With services based on exome sequencing becoming affordable to patients at a reasonable price, the question of the quality of the results provided has become increasingly important. The exome is the DNA sequence of genes that are translated into protein. These protein-coding regions contain most of the currently-known disease-causing genetic mutations. The American College of Medical Genetics and Genomics (ACMG) has recommended the reporting to patients of clinically actionable incidental genetic findings in the course of clinical exome testing.

A study presented at the American Society of Clinical Oncology (ASCO) Annual Meeting 2014 reports the results of a first-in-human, phase 1 dose escalation trial of crizotinib (XALKORI) in 14 patients with advanced, MET-amplified non-small cell lung cancer (NCT00585195).

At the 50th Annual Meeting of the American Society for Clinical Oncology (ASCO), University of Colorado Cancer Center researchers reported results of a Phase I trial of OMP-54F28 (FZD8-Fc), an investigational drug candidate discovered by OncoMed Pharmaceuticals targeting cancer stem cells (CSCs). The drug was generally well tolerated, and several of the 26 patients with advanced solid tumors experienced stable disease for greater than six months.