X–linked juvenile retinoschisis (RS) is a recessively inherited vitreo-retinal degeneration
characterized by macular pathology and intraretinal splitting of the retina. The RS gene has …

Importance Limited information about the relationship between specific mutations
inBRCA1orBRCA2 (BRCA1/2) and cancer risk exists. Objective To identify mutation-specific …

To identify common alleles associated with different histotypes of epithelial ovarian cancer
(EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC …

PURPOSE To provide precise age-specific risk estimates of cancers other than female
breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and …

Recently, the VMD2 gene has been identified as the causative gene in juvenile-onset
vitelliform macular dystrophy (Best disease), a central retinopathy primarily characterised by …

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been
reported in single populations, with the majority of reports focused on White in Europe and …

Purpose To characterise the prevalence of pathogenic germline mutations in BRCA1 and
BRCA2 in families with breast cancer (BC) and ovarian cancer (OC) history. Patients and …

Deleterious mutations in RS1 encoding retinoschisin are associated with X-linked juvenile
retinoschisis (RS), a common form of macular degeneration in males. The disorder is …

Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men.
Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We …

The prevalence of germ line mutations in non‐BRCA 1/2 genes associated with hereditary
breast cancer (BC) is low, and the role of some of these genes in BC predisposition and …