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Genetic Linkage

Eye Melanoma, Media Hype, and Genomic Medicine

The brown area in the lower left of this eye is a melanoma.
Melanoma of the eye presents a case study in the value of diagnosing by phenotype (symptoms and physical presentation) versus by risk genotype – a discussion that may impact ongoing efforts to sequence gazillions of human genomes. One recent estimate predicts two billion done by 2025.

The big question: How much genome data will be clinically useful? Read More 
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Redhead Gene Doubles Melanoma Risk, Without Sun

Variants of the melanocortin-1-receptor (MC1R) gene impart the red hair, fair skin, and freckles of a Prince Harry or Wilma Flintstone – and also poorer protection against ultraviolet (UV) radiation and therefore higher risk of developing skin cancers, including melanoma. But a new study published in JAMA Dermatology reveals that MC1R genotype alone more than doubles the risk of melanoma.

The Ginger Gene
Many colorful creatures owe their distinctive phenotypes to MC1R variants, from red pandas and ruffed lemurs, to Golden retrievers and brown cavefish and Kuzakh fat-rumped sheep. Orangutans are an exception – their hue arises from a different gene. Read More 
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Targeting Cancer: A Basketful of Hope

Basket studies allow researchers to evaluate considering a cancer's mutations in choosing treatment. (NHGRI)
Targeted treatments for cancer have been extending and saving lives for more than 15 years — precision medicine isn’t a new idea in oncology. Now drugs pioneered on select, specific cancers are, one by one, finding new applications.

The first wave of targeted drug approvals were for cancers associated with specific mutations. Herceptin (traztuzumab) led the way, approved in 1998. It’s a monoclonal antibody deployed against the HER2/neu receptor that is overabundant in some aggressive and early-onset breast cancers. Robert Bazell’s excellent book Her 2 tells the tale.

In 2001 came the blockbuster Gleevec (imatinib), a small molecule tyrosine kinase inhibitor that intercepts signals to divide. Erin Zammett’s My So-Called Normal Life with Cancer relates that story. A very young editor at Glamour magazine when a routine check-up revealed chronic myelogenous leukemia, Erin’s recovery was one of the first of thousands thanks to this now famous drug. Read More 
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