Summary The American College of Medical Genetics and Genomics (ACMG)/Association for
Molecular Pathology (AMP) framework for classifying variants uses six evidence categories …

Modeling splicing is essential for tackling the challenge of variant interpretation as each
nucleotide variation can be pathogenic by affecting pre‐mRNA splicing via …

Importance Performing DNA genetic testing (DGT) for hereditary cancer genes is now a well-
accepted clinical practice; however, the interpretation of DNA variation remains a challenge …

Abstract BRCA1 (breast cancer 1, early onset), a well-known breast cancer susceptibility
gene, is a highly alternatively spliced gene. BRCA1 alternative splicing may serve as an …

Purpose Despite the widespread use of high-throughput genotyping strategies, certain
mutation types remain understudied. We provide an overview of these often overlooked …

PALB2 loss‐of‐function variants confer high risk of developing breast cancer. Here we
present a systematic functional analysis of PALB2 splice‐site variants detected in …

Abstract Background Branch points (BPs) map within short motifs upstream of acceptor
splice sites (3'ss) and are essential for splicing of pre-mature mRNA. Several BP-dedicated …

Background Disrupted pre-mRNA splicing is a frequent deleterious mechanism in hereditary
cancer. We aimed to functionally analyze candidate spliceogenic variants of the breast …

DNA germline genetic testing can identify individuals with cancer susceptibility. However,
DNA sequencing alone is limited in its detection and classification of mRNA splicing …

Simple Summary Hereditary Breast and Ovarian Cancer syndrome (HBOC) is an inherited
trait that predisposes adults to an earlier onset of cancer than the general population. HBOC …