Zobrazeno 1 - 10
of 671
pro vyhledávání: '"Judy E, Garber"'
Autor:
Stefania Morganti, Qingchun Jin, Julie Vincuilla, Ryan Buehler, Sean Ryan, Samantha Stokes, Tonia Parker, Elizabeth A. Mittendorf, Tari A. King, Anna Weiss, Ann H. Partridge, Brittany L. Bychkovsky, Giuseppe Curigliano, Nabihah Tayob, Nancy U. Lin, Judy E. Garber, Sara M. Tolaney, Filipa Lynce
Publikováno v:
npj Breast Cancer, Vol 10, Iss 1, Pp 1-6 (2024)
Abstract Following the survival benefit demonstrated in the OlympiA trial, one year of adjuvant olaparib is now recommended for all patients with germline BRCA1/2 pathogenic/likely pathogenic variants (PV) and high-risk, HER2-negative early breast ca
Externí odkaz:
https://doaj.org/article/a6787b2746714e679389db17fc729577
Autor:
Kevin Elias, Urszula Smyczynska, Konrad Stawiski, Zuzanna Nowicka, James Webber, Jakub Kaplan, Charles Landen, Jan Lubinski, Asima Mukhopadhyay, Dona Chakraborty, Denise C. Connolly, Heather Symecko, Susan M. Domchek, Judy E. Garber, Panagiotis Konstantinopoulos, Wojciech Fendler, Dipanjan Chowdhury
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-9 (2023)
Abstract Identifying germline BRCA1/2 mutation carriers is vital for reducing their risk of breast and ovarian cancer. To derive a serum miRNA-based diagnostic test we used samples from 653 healthy women from six international cohorts, including 350
Externí odkaz:
https://doaj.org/article/a02df781daaa4b0c894cbc2fcadb377a
Autor:
Nihat B. Agaoglu, Brittany L. Bychkovsky, Carolyn Horton, Min-Tzu Lo, Linda Polfus, Cassidy Carraway, Parichehr Hemyari, Colin Young, Marcy E. Richardson, Rochelle Scheib, Judy E. Garber, Huma Q. Rana
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101829- (2024)
Purpose: As panel testing expands, more individuals with double pathogenic variants (DPVs) in cancer susceptibility genes are likely to be identified. Little is known about the effects of DPVs on cancer phenotype, although this information is crucial
Externí odkaz:
https://doaj.org/article/bdca0bccbd394f8bae31f3d0613bd1f9
Autor:
Raymond A. Isidro, Anu Chittenden, McKenzie Walker, Alison Schwartz, Diane R. Koeller, Connor P. Hayes, Busra Unal, Monica Devi Manam, Ryan M. Buehler, Danielle K. Manning, Lynette M. Sholl, Mark S. Redston, Matthew B. Yurgelun, Huma Q. Rana, Judy E. Garber, Arezou A. Ghazani
Publikováno v:
Frontiers in Oncology, Vol 13 (2024)
The presence of variants of uncertain significance (VUS) in DNA mismatch repair (MMR) genes leads to uncertainty in the clinical management of patients being evaluated for Lynch syndrome (LS). Currently, there is no platform to systematically use tum
Externí odkaz:
https://doaj.org/article/6d8a9b32038a4cdca4bc04f27dba67f4
Autor:
Emilia M. Pinto, Cintia Fridman, Bonald C. Figueiredo, Hector Salvador, Manuel R. Teixeira, Carla Pinto, Manuela Pinheiro, Christian P. Kratz, Cinzia Lavarino, Edith A.M. F. Legal, Anh Le, Gregory Kelly, Erika Koeppe, Elena M. Stoffel, Kelsey Breen, Stefanie Hahner, Britta Heinze, Piti Techavichit, Amanda Krause, Tsutomu Ogata, Yasuko Fujisawa, Michael F. Walsh, Huma Q. Rana, Kara N. Maxwell, Judy E. Garber, Carlos Rodriguez-Galindo, Raul C. Ribeiro, Gerard P. Zambetti
Publikováno v:
HGG Advances, Vol 5, Iss 1, Pp 100244- (2024)
Summary: The germline TP53 p.R337H mutation is reported as the most common germline TP53 variant. It exists at a remarkably high frequency in the population of southeast Brazil as founder mutation in two distinct haplotypes with the most frequent co-
Externí odkaz:
https://doaj.org/article/02c8af13bfa145bdbadf55670897ec29
Autor:
Kenneth P. Tercyak, Tiffani A. DeMarco, Katherine A. Schneider, George Luta, Claudine Isaacs, Judy E. Garber, Marcelo M. Sleiman, Jr., Mary Rose Yockel, Beth N. Peshkin
Publikováno v:
PEC Innovation, Vol 2, Iss , Pp 100129- (2023)
Objective: Evaluate the impact of a targeted family communication intervention for mothers undergoing genetic counseling and testing (GCT) for BRCA gene alterations. Methods: Following BRCA GCT, mothers (N = 204; M age = 45 y) were randomized to eith
Externí odkaz:
https://doaj.org/article/d15b4ed2a555415c8e476d3e54b7713c
Autor:
Junne Kamihara, Jing Zhou, Holly LaDuca, Ari J. Wassner, Emily Dalton, Judy E. Garber, Mary Helen Black
Publikováno v:
Cancer Medicine, Vol 11, Iss 8, Pp 1745-1752 (2022)
Abstract Purpose Multigene panels allow simultaneous testing of genes involved in cancer predisposition. Thyroid cancer (TCa) is a component tumor of several cancer predisposition syndromes, but the complete landscape of germline variants predisposin
Externí odkaz:
https://doaj.org/article/713331bc6073474ba0925e476ab3f6b4
Autor:
Nadine Tung, Judy E. Garber
Publikováno v:
npj Breast Cancer, Vol 8, Iss 1, Pp 1-5 (2022)
PARP inhibitors have been approved for the treatment of metastatic breast cancer in germline BRCA mutation (gBRCAm) carriers. The recent OlympiA trial demonstrated improved progression-free and distant disease-free survival with adjuvant olaparib for
Externí odkaz:
https://doaj.org/article/7622bb2ebe924ddb9e24de8907de94d6
Autor:
Danielle K. Manning, Priyanka Shivdasani, Diane R. Koeller, Alison Schwartz, Huma Q. Rana, Judy E. Garber, Neal I. Lindeman, Arezou A. Ghazani
Publikováno v:
Data in Brief, Vol 39, Iss , Pp 107653- (2021)
Von Hippel-Lindau (VHL) syndrome is a hereditary cancer genetic condition associated with inactivating pathogenic alterations in the VHL tumor suppressor gene located at 3p (short arm of chromosome 3). Classic features of VHL include clear cell renal
Externí odkaz:
https://doaj.org/article/2639378a2e4349219113d5d0a39e0357
Autor:
Alison Schwartz, Danielle K. Manning, Diane R. Koeller, Anu Chittenden, Raymond A. Isidro, Connor P. Hayes, Feruza Abraamyan, Monica Devi Manam, Meaghan Dwan, Justine A. Barletta, Lynette M. Sholl, Matthew B. Yurgelun, Huma Q. Rana, Judy E. Garber, Arezou A. Ghazani
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
Genomic profiles of tumors are often unique and represent characteristic mutational signatures defined by DNA damage or DNA repair response processes. The tumor-derived somatic information has been widely used in therapeutic applications, but it is g
Externí odkaz:
https://doaj.org/article/16388d6d31534f26bcb25927bd33d184