The promising expectations about personalized medicine have opened the path to routine
large-scale sequencing and increased the importance of genetic counseling for hereditary …

Clinical mutation screening of the BRCA1 and BRCA2 genes for the presence of germline
inactivating mutations is used to identify individuals at elevated risk of breast and ovarian …

Mutations in DNA damage response (DDR) genes endanger genome integrity and
predispose to cancer and genetic disorders. Here, using CRISPR-dependent cytosine base …

There is substantial heterogeneity among primary prostate cancers, evident in the spectrum
of molecular abnormalities and its variable clinical course. As part of The Cancer Genome …

Purpose Recent advances in DNA sequencing have led to the development of breast cancer
susceptibility gene panels for germline genetic testing of patients. We assessed the …

Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to
predict risk of developing cancer. In general, sequence‐based testing of germline DNA is …

As genetic testing for predisposition to human diseases has become an increasingly
common practice in medicine, the need for clear interpretation of the test results is apparent …

Acquired platinum resistance is a serious problem in the treatment of ovarian carcinomas.
However, the mechanism of the drug resistance has not been elucidated. Here, we show …

Genetic testing has the potential to guide the prevention and treatment of disease in a
variety of settings, and recent technical advances have greatly increased our ability to …

The multifactorial likelihood analysis method has demonstrated utility for quantitative
assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data …