Germ-Line Mutation

Displaying 1 - 9 of 9CSV
Mitchell, J., Camacho, N., Shea, P., Stopsack, K. H., Joseph, V., Burren, O. S., Dhindsa, R. S., Nag, A., Berchuck, J. E., O’Neill, A., Abbasi, A., Zoghbi, A. W., Alegre-Díaz, J., Kuri-Morales, P., Berumen, J., Tapia-Conyer, R., Emberson, J., Torres, J. M., Collins, R., … Fabre, M. A. (2025). Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases. Nature Communications, 16(1). https://doi.org/10.1038/s41467-025-56944-1
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Stillman, M. D., Kusche, N., Toledano, S., Hilfrank, K. J., Yoon, C., Gabre, J. T., Rustgi, S. D., Hur, C., Kastrinos, F., Ryeom, S. W., & Yoon, S. S. (2022). Short and long‐term outcomes of prophylactic total gastrectomy in 54 consecutive individuals with germline pathogenic mutations in the CDH1 gene. Journal of Surgical Oncology, 126(8), 1413–1422. Portico. https://doi.org/10.1002/jso.27084
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Küry, S., Ebstein, F., Mollé, A., Besnard, T., Lee, M.-K., Vignard, V., Hery, T., Nizon, M., Mancini, G. M. S., Giltay, J. C., Cogné, B., McWalter, K., Deb, W., Mor-Shaked, H., Li, H., Schnur, R. E., Wentzensen, I. M., Denommé-Pichon, A.-S., Fourgeux, C., … Isidor, B. (2022). Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder. The American Journal of Human Genetics, 109(2), 361–372. https://doi.org/10.1016/j.ajhg.2021.12.011
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Columbia Affiliation
Das, A., Sudhaman, S., Morgenstern, D., Coblentz, A., Chung, J., Stone, S. C., Alsafwani, N., Liu, Z. A., Karsaneh, O. A. A., Soleimani, S., Ladany, H., Chen, D., Zatzman, M., Cabric, V., Nobre, L., Bianchi, V., Edwards, M., Sambira Nahum, L. C., Ercan, A. B., … Tabori, U. (2022). Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency. Nature Medicine, 28(1), 125–135. https://doi.org/10.1038/s41591-021-01581-6
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Lu, H. Y., Sertori, R., Contreras, A. V., Hamer, M., Messing, M., Del Bel, K. L., Lopez-Rangel, E., Chan, E. S., Rehmus, W., Milner, J. D., McNagny, K. M., Lehman, A., Wiest, D. L., & Turvey, S. E. (2021). A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation. Frontiers in Immunology, 12. https://doi.org/10.3389/fimmu.2021.788278
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Morra, A., Escala-Garcia, M., Beesley, J., Keeman, R., Canisius, S., Ahearn, T. U., Andrulis, I. L., Anton-Culver, H., Arndt, V., Auer, P. L., Augustinsson, A., Beane Freeman, L. E., Becher, H., Beckmann, M. W., Behrens, S., Bojesen, S. E., Bolla, M. K., Brenner, H., Brüning, T., … Schmidt, M. K. (2021). Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment. Breast Cancer Research, 23(1). https://doi.org/10.1186/s13058-021-01450-7
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Rustgi, S. D., Hilfrank, K. J., & Kastrinos, F. (2022). Familial Predisposition and Genetic Risk Factors Associated with Pancreatic Cancer. Gastrointestinal Endoscopy Clinics of North America, 32(1), 1–12. https://doi.org/10.1016/j.giec.2021.09.001
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Lisco, A., Hsu, A. P., Dimitrova, D., Proctor, D. M., Mace, E. M., Ye, P., Anderson, M. V., Hicks, S. N., Grivas, C., Hammoud, D. A., Manion, M., Starrett, G. J., Farrel, A., Dobbs, K., Brownell, I., Buck, C., Notarangelo, L. D., Orange, J. S., Leonard, W. J., … Sereti, I. (2021). Treatment of Relapsing HPV Diseases by Restored Function of Natural Killer Cells. New England Journal of Medicine, 385(10), 921–929. https://doi.org/10.1056/nejmoa2102715
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