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Hereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls
Date: November 12, 2025Authors:Silvana Lobo, Alexandre Dias, Ana Maria Pedro, Marta Ferreira, André Pinto-Oliveira, …Journal: GutCollaborators: -
Frequency and clinical features of germline pathogenic variants in sarcoma: A case-control study
Date: November 12, 2025Authors:Adela Rodriguez-Hernandez, Miki Horiguchi, Carolyn Horton, Linda M. Polfus, Brittany L. Bychkovsky, …Journal: Journal of the National Cancer Institute -
SMARCA4 pathogenic variants: Gynecological cancer histories from a laboratory tested cohort
Date: November 12, 2025Authors:Brittany A Borden, Adela Rodriguez-Hernandez, Magan Trottier, Miki Horiguchi, Jamie D. Weyandt, …Journal: Gynecologic Oncology -
Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing
Date: September 8, 2025Authors:Jennifer Herrera-Mullar, Carolyn Horton, Amybeth Weaver, Meghan C. Towne, Jennifer M. Huang, …Journal: Genome MedicineCollaborators: -
Low allele frequency variants identified on germline multi-gene panel testing for cancer predisposition can suggest the presence of constitutional mosaicism
Date: August 21, 2025Authors:Adela Rodriguez-Hernandez, Linda M. Polfus, Brittany L. Bychkovsky, Beth Souders, Aleix Prat, …Journal: Clinical Cancer Research