So-called 'drug-metabolizing enzyme'(DME) genes have existed on this planet for more than
2.5 billion years and would be more appropriately named 'effector-metabolizing enzymes' …

Cryptic splice sites are used only when use of a natural splice site is disrupted by mutation.
To determine the features that distinguish authentic from cryptic 5′ splice sites (5′ ss), we …

In a BRCA1 screening in familial breast cancer carried out in different centres in Spain,
France, and United Kingdom, a missense mutation 330A> G which results in a Arg to Gly …

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 …

Importance Among Ashkenazi Jewish women, 3 mutations inBRCA1andBRCA2severely
increase the risk of breast and ovarian cancer. However, among Ashkenazi Jewish patients …

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 …

The Bahamas is a group of islands in the Caribbean with a high incidence of early onset
breast cancer. In isolated populations, the identification of founder mutations in cancer …

Screening for pathogenic mutations in breast and ovarian cancer genes such as BRCA1/2,
CHEK2 and RAD51C is common practice for individuals from high-risk families. However …

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 …