Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...

Avoidance-avoidance conflict refers to a psychological situation where a person must choose between two or more unpleasant alternatives. These conflicts are particularly stressful because neither option is desirable. This dilemma is often expressed in sayings like "caught between a rock and a hard place" or "between the devil and the deep blue sea." For instance, individuals who fear dental procedures may find themselves torn between enduring a painful toothache or facing the...

Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...

Psychology is the scientific discipline dedicated to understanding both observable behavior and the internal mental processes underlying such behavior. It aims to comprehend human nature and apply this understanding to solve practical problems, enhance well-being, and improve societal outcomes. An example of psychology's application is the study of prosocial behavior, such as why and under what conditions individuals might help strangers in need. This process involves describing observed...