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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:Adriá López-Fernández, Alexandre Dias, Ana Maria Pedro, Ana Patiño, 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, Brittany L. Bychkovsky, Carolyn Horton, Huma Rana, Judy E. Garber, …Journal: Journal of the National Cancer Institute -
SMARCA4 pathogenic variants: Gynecological cancer histories from a laboratory tested cohort
Date: November 12, 2025Authors:Adela Rodriguez-Hernandez, Brittany A Borden, Brittany L. Bychkovsky, Carolyn Horton, Colin C. Young, …Journal: Gynecologic Oncology -
Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing
Date: September 8, 2025Authors:Amybeth Weaver, Bess Wayburn, Carolyn Horton, Grace E. VanNoy, Jennifer Herrera-Mullar, …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, Aleix Prat, Barbara Adamo, Beth Souders, Brittany L. Bychkovsky, …Journal: Clinical Cancer Research
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