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This Week in JAMA: Apr 20, 2011


In JAMA this week, a team of US researchers say they have identified a novel tp53 cancer susceptibility mutation through whole-genome sequencing of a patient with chemotherapy-associated AML. The sequencing revealed a novel, heterozygous 3-kilobase deletion removing exons 7-9 of TP53 in the patient's normal skin DNA, which was homozygous in the leukemia DNA, the authors write. "Whole-genome sequencing can identify novel, cryptic variants in cancer susceptibility genes in addition to providing unbiased information on the spectrum of mutations in a cancer genome," they add.

Also in JAMA this week, researchers at Washington University in St. Louis used whole-genome sequencing to diagnose a cryptic fusion oncogene. The team was referred to a patient with acute promyelocytic leukemia and no pathogenic X-RARA fusion oncogene identified by routine metaphase cytogenetics or interphase fluorescence in situ hybridization. Through massively parallel paired-end sequencing, the researchers identified what they call a "a cytogenetically cryptic event: a 77-kilobase segment from chromosome 15 was inserted en bloc into the second intron of the RARA gene on chromosome 17, resulting in a classic bcr3 PML-RARA fusion gene." The sequencing and validation were done in seven weeks, which allowed the clinician to change the patient's treatment plan based on the research team's findings.

And finally in JAMA this week, MJ Friedrich says recent studies show that about 50 percent of men in the general population are infected with genital human papillomavirus — the virus that causes cervical cancer — which strengthens the case of advocates who are calling for boys to be vaccinated against HPV. The data suggests that men have high infection and low disease rates, while women and low infection and high disease rates, Friedrich says.

The Scan

Long COVID-19 Susceptibility Clues Contained in Blood Plasma Proteome

A longitudinal study in eBioMedicine found weeks-long blood plasma proteome shifts after SARS-CoV-2 infection, along with proteomic signatures that appeared to coincide with long Covid risk.

Tibetan Study Finds Adaptive Variant Influencing Skin Pigmentation

With a combination of phenotyping and genetic data, researchers document at PNAS a Tibetan-enriched enhancer variant influencing melanin synthesis and ultraviolet light response.

Domestication Linked to Nervous System Genes in Inbred Mouse Strains

Researchers highlighted more than 300 positively selected genes in domesticated mice, including genes linked to nervous system function or behavior in Genome Biology.

ALS Genetic Testing May Be Informative Across Age Ranges, Study Finds

Researchers in the journal Brain identified clinically actionable variants in a significant subset of older ALS patients, prompting them to point to the potential benefits of broader test use.