Bing Feng

SWI/SNF Alterations Define a Chromatin-Dependent Subtype of Urothelial Carcinoma

This paper identifies a chromatin-altered subtype of urothelial carcinoma defined by SWI/SNF alterations, showing it is sensitive to HDAC inhibition and immunotherapy.

Exome Sequencing for Head and Neck Cancer Predisposition Genes

This study identifies 27 genes associated with head and neck cancer risk through exome sequencing and finds significant interactions between DNA repair gene variants and cigarette smoking.

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.

Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria

The paper calibrates computational tools for missense variant pathogenicity classification and provides evidence-based revisions to PP3/BP4 ACMG/AMP criteria.

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

The paper specifies TP53-specific ACMG/AMP variant classification guidelines, reducing variants of uncertain significance from 28% to 12%.

A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis

The paper identifies a novel RPS20 splice donor variant linked to familial CRC and polyposis, showing aberrant splicing and supporting a haploinsufficiency mechanism.

Evaluation of ACMG Rules for In silico Evidence Strength Using An Independent Computational Tool Absent of Circularities on ATM and CHEK2 Breast Cancer Cases and Controls

The paper evaluates the ACMG PP3 and BP4 rules using Align-GVGD on ATM and CHEK2 data, finding that severe Align-GVGD grades exceed a moderate pathogenic threshold in a Bayesian framework.