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Case study of a performance-active changing trans* male singing voice

A professional classical singer of more than 25 years (AZ) in his early 50s requested this voice researcher’s consultation and assistance in early 2014. He was about to start living full time as a trans* man. Despite his intention to be included in the low start/gradual increase testosterone option of the Trans* Male (previously, “FTM”) Singing Voice Program, the request contained a rather unconventional aspect: AZ would continue to sing while his voice was changing. The above request was integral with his singing history. After the introduction of safeguards and his informed consent, AZ was accepted onto the Program. Due to the highly individual circumstances, his participation was recorded as a case study. The study has aimed to replicate the particulars of the slow hormonal changes and continuing singing ability found in certain cisgender male adolescent voices. Despite dealing with an adult trans* male individual, the progress has been comparable. This has been achieved by carefully monitoring AZ’s low start/gradual increase testosterone administration in communication with the medical practitioner. The participant’s vocal health remained safeguarded and promoted by carefully individualized vocal tuition. This article will discuss the collective results of the case study, including the recordings and the data analysis

Polygenic risk scores for prediction of breast cancer and breast cancer subtypes

Abstract Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57–1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628–0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs