The detection of germline pathogenic variants (gPVs) in BRCA1/2 and other breast cancer
(BC) genes is rising exponentially thanks to the advent of multi-gene panel testing. This …

Germ line predisposition in acute myeloid leukemia (AML) has gained attention in recent
years because of a nonnegligible frequency and an impact on management of patients and …

Motivation Germline variant classification allows accurate genetic diagnosis and risk
assessment. However, it is a tedious iterative process integrating information from several …

Simple Summary Pediatric malignancies rarely occur, with 12,000–15,000 cases per year in
the United States. Approximately 10% of pediatric cancers are thought to be secondary to …

Pleomorphic rhabdomyosarcoma (PRMS) is an extremely rare soft tissue tumor with dismal
prognosis that has a higher incidence in adults compared to the other RMS subtypes. The …

Currently, there is still a lack of novel and effective drug targets to improve the prognosis of
hepatocellular carcinoma (HCC). Additionally, the role of CHEK2 in HCC has not been …

Background Colorectal cancer (CRC) is one of the most prevalent malignances worldwide.
However, CRC with situs inversus totalis (SCRC) is extremely rare, and molecular …

Simple Summary TUMOSPEC was designed for estimating the risk of cancer for carriers of a
predicted pathogenic variant (PPV) in a gene usually tested in a hereditary breast and …

Background Medulloblastoma is the most common malignant brain tumor in children. Most
cases are sporadic, but well characterized germline alterations in APC, ELP1, GPR161 …

Clonal hematopoiesis of indeterminate potential (CHIP) describes recurrent somatic gene
mutations in the blood of healthy individuals, associated with higher risk for hematological …