Asian populations are under-represented in human genomics research. Here, we characterize
clinically significant genetic variation in 9051 genomes representing East Asian, South …

Cholangiocarcinoma (CCA) is the primary cancer of the bile duct system. The role of bile duct
tissue microbiomes in CCA tumorigenesis is unestablished. To address this, sixty primary …

Although CDKN2A is well-known as a susceptibility gene for melanoma and pancreatic
cancer, germline variants have also been anecdotally associated with a broader range of …

Associations of sarcoma with inherited cancer syndromes implicate genetic predisposition
in sarcoma development. However, due to the apparently sporadic nature of sarcomas, little …

Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer
risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. …

PURPOSE Genetic testing has clinical utility in the management of patients with hereditary
cancer syndromes. However, the increased likelihood of encountering a variant of uncertain …

Objective Somatic POLE mutations have been found in a subset of endometrioid ECs particularly
in FIGO grade 3 tumors while POLD1 mutations are reportedly rare in ECs. While it has …

Background Growing evidence suggests a role for cancer susceptibility genes such as BRCA2
and PALB2 in young-onset colorectal cancers. Using a cohort of young colorectal cancer …

Purpose Previous reports cite high costs of clinical cancer genetic testing as main barriers
to patient's willingness to test. We report findings of a pilot study that evaluates how different …

Background Family history has traditionally been an essential part of clinical care to assess
health risks. However, declining sequencing costs have precipitated a shift towards genomics…