Collaborator: City of Hope

• Germline testing in Asian American and Pacific Islander women with breast cancer

  August 3, 2026

• A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

• Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population

• Pathogenic variants in cancer susceptibility genes predispose to Ductal Carcinoma In situ of the breast

• ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

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

• A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers

• Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

• Genetics of gastric cancer: what do we know about the genetic risks?

  Abstract An appreciable number of patients with gastric cancer have an underlying hereditary cancer susceptibility syndrome as the cause of their gastric cancer, particularly those with early onset gastric cancer or a family history of gastric or other cancers. Pathogenic germline variants in specific genes account for the known gastric cancer predisposition syndromes. Germline genetic…

• Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

  Abstract Purpose To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. Methods We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis was used…