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.