A large number of sequence variants identified in BRCA1 and BRCA2 cannot be
distinguished as either disease‐causing mutations or neutral variants. These so‐called …

Regulation of splicing 2.1. Splicing elements 2.1. 1. Splice site consensus sequences 2.1. 2.
Exonic splice elements 2.2. Splicing factors 2.2. 1. Spliceosome 2.2. 2. SR proteins 2.2. 3 …

Clinical mutation screening of the cancer susceptibility genes BRCA1 and BRCA2
generates many unclassified variants (UVs). Most of these UVs are either rare missense …

Germline mutations in the human breast cancer susceptibility genes BRCA1 and BRCA2
account for the majority of hereditary breast and ovarian cancer. In spite of the large number …

Clinical genetic testing is increasingly employed in the medical management of cancer
patients. These tests support a variety of clinical decisions by providing results that indicate …

Alterations in BRCA1 and BRCA2 genes account for a large proportion of hereditary breast
and ovarian cancers. Mutations and variants of unknown pathological significance have …

Genetic screening of women from multiple‐case breast cancer families and other research‐
based endeavors have identified an extensive collection of germline variations of BRCA1 …

Background: The vast majority of BRCA1 missense sequence variants remain
uncharacterised for their possible effect on protein expression and function, and therefore …

Comprehensive genetic testing of the breast cancer susceptibility genes BRCA1 and
BRCA2 identified approximately 16% of variants of unknown significance (VUS), a …

Abstract Background Breast Cancer is the most commonly diagnosed cancer among Sri
Lankan women. Germline mutations in the susceptibility genes BRCA1 and BRCA2 in …