Inherited Variants in the COL11A, COL1A, COL5A1, COMP, GSTM1 Genes and the Risk of Carpal Tunnel Syndrome.

Unlabelled: The pathogenesis of most cases of carpal tunnel syndrome is not clearly defined. There are some aspects of the disease that suggest a potential effect of genetic predispositions. Mutations (variants) within the genes encoding various subtypes of collagen synthesis, oligomerisation in the endoplasmic reticulum and inactivation of reactive oxygen species may be involved in the development of carpal tunnel syndrome.

The c.783delG Truncating Mutation Is Not Associated with an Increased Risk of Breast Cancer in the Polish Population.

The gene belongs to a cluster of DNA-editing enzymes on chromosome 22 and encodes an activation-induced cytidine deaminase. A large deletion of was associated with increased breast cancer risk, but the evidence is inconclusive. To investigate whether or not is a breast cancer susceptibility gene, we sequenced this gene in 617 Polish patients with hereditary breast cancer.

Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank.

Several breast cancer susceptibility genes have been discovered, but more are likely to exist. To identify additional breast cancer susceptibility genes, we used the founder population of Poland and performed whole-exome sequencing on 510 women with familial breast cancer and 308 control subjects. We identified a rare mutation in ATRIP (GenBank: NM_130384.

Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland.

Background: Mutations in BRCA1 and BRCA2 genes are well-established risk factors of breast and ovarian cancer. In our former study, we observed that approximately 6% of unselected ovarian cancer patients in the region of Podkarpacie (South-East Poland) carry BRCA1 causative founder variants, which is significantly lower than in other regions of Poland. Therefore, it is deeply justified to do research based on the sequencing of whole BRCA1 and BRCA2 genes.

Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?

The current cancer testing gene panels tend to be comprehensive rather than site-specific. is one of the genes commonly included in the multi-cancer testing panels. Mutations in confer an increase in the risk for breast cancer, but it is not studied whether or not they predispose to prostate cancer.