Breast and ovarian cancers are some of the most common tumors in females, and the
genetic predisposition is emerging as one of the key risk factors in the development of these …

Summary The American College of Medical Genetics and Genomics (ACMG)/Association for
Molecular Pathology (AMP) framework for classifying variants uses six evidence categories …

BRCA1 and BRCA2 are tumor suppressor genes with pivotal roles in the development of
breast and ovarian cancers. These genes are essential for DNA double-strand break repair …

In the past several years, nanopore sequencing technology from Oxford Nanopore
Technologies (ONT) and single-molecule real-time (SMRT) sequencing technology from …

The subset of ovarian cancer (OC) diagnosed≤ 30yo represents a distinct subgroup
exhibiting disparities from late-onset OC in many aspects, including indefinite germline …

Abstract Oxford Nanopore Technologies sequencing, also referred to as Nanopore
sequencing, stands at the forefront of a revolution in clinical genetics, offering the potential …

Cutaneous melanoma is the deadliest skin malignity with a rising prevalence worldwide.
Patients carrying germline mutations in melanoma-susceptibility genes face an increased …

Germline DNA testing using the next-generation sequencing (NGS) technology has become
the analytical standard for the diagnostics of hereditary diseases, including cancer. Its …

Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer
(FBC). Here we describe a recurrent germline intronic variant c. 1009-118_1009-87delinsC …

Abstract The American College of Medical Genetics and Genomics (ACMG) and the
Association for Molecular Pathology (AMP) framework for classifying variants uses six …