Chinese women with triple-negative breast cancer who are diagnosed at or before age of 50 are candidates for BRCA1 genetic testing. Among triple-negative breast cancer patients, BRCA1 carriers are more likely to respond to neoadjuvant anthracycline-based regimens than are non-carriers.

The digital training system with OPRS and RDTES might be a good alternative to the traditional training method in the preclinical course of dental practice.

What are the novel findings of this work?Using chromosomal microarray analysis (CMA) and exome sequencing in 360 unselected fetuses with congenital heart defect (CHD), positive genetic diagnoses were made in 84 (23.3%) cases, including 60 (16.7%) cases with chromosomal abnormalities detected by CMA and a further 24 (6.7%) cases with sequence variants detected by exome sequencing. The prevalence of a genetic defect was highest in fetuses with an atrioventricular septal defect (36.8%), ventricular septal defect with or without atrial septal defect (28.4%), conotruncal defect (22.2%) or right ventricular outflow tract obstruction (20.0%). We also identified two novel missense mutations and a new phenotype caused by variants in PLD1. What are the clinical implications of this work?These findings may facilitate prenatal diagnosis and provide a basis for genetic counseling in pregnancies with fetal CHD. Exome sequencing should be offered to all CHD fetuses without chromosomal abnormality or pathogenic copy number variation identified by CMA.

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