Germline mutations in the tumor suppressor gene BRCA1 confer an estimated lifetime risk of
56–80% for breast cancer and 15–60% for ovarian cancer. Since the mid 1990s when …

Abstract Between 50,000 and 60,000 mutations have been described in various genes that
are associated with a wide variety of diseases. Reporting, storing and analysing these data …

Background: Genetic testing for hereditary cancer syndromes contributes to the medical
management of patients who may be at increased risk of one or more cancers. BRCA1 and …

Mutation screening of the breast and ovarian cancer–predisposition genes BRCA1 and
BRCA2 is becoming an increasingly important part of clinical practice. Classification of rare …

Genetic screening of the breast and ovarian cancer susceptibility gene BRCA1 has
uncovered a large number of variants of uncertain clinical significance. Here, we use …

Introduction Two major high-penetrance breast cancer genes, BRCA1 and BRCA2, are
responsible for approximately 20% of hereditary breast cancer (HBC) cases in Finland …

Early age at onset is generally considered an indicator of genetic susceptibility to breast
cancer. To address both the proportion of early-onset breast cancer associated with BRCA-1 …

Introduction. DNA variants of uncertain significance (VUS) are common outcomes of clinical
genetic testing for susceptibility to cancer. A statistically rigorous model that provides a …

Abstract Variants of Uncertain Significance (VUS) are genetic variants whose association
with a disease phenotype has not been established. They are a common finding in …

The influence of germ line BRCA2 unclassified variants (UCV), including missense
mutations and in-frame deletions and insertions on BRCA2 function and on cancer risk, has …