Risk-management decision-making data from a community-based sample of racially diverse women at high risk of breast cancer: rationale, methods, and sample characteristics of the Daughter Sister Mother Project survey

Autor: Tasleem J. Padamsee, Christina Bijou, Paige Swinehart-Hord, Megan Hils, Anna Muraveva, Rachel J. Meadows, Kate Shane-Carson, Lisa D. Yee, Celia E. Wills, Electra D. Paskett

Publikováno v: Breast Cancer Research, Vol 26, Iss 1, Pp 1-20 (2024)

Abstract Background To understand the dynamics that limit use of risk-management options by women at high risk of breast cancer, there is a critical need for research that focuses on patient perspectives. Prior research has left important gaps: exclu

Externí odkaz: https://doaj.org/article/44ca7529ef874dbda6c9d1ed8c17f98b

Call for improvement in medical school training in genetics: results of a national survey

Autor: Richard L. Haspel, Jonathan R. Genzen, Jay Wagner, Karen Fong, Rebecca Wilcox, Patricia V. Adem, Hana Anderson, James B. Atkinson, Leah W. Burke, Loren Joseph, Robin D. LeGallo, Madelyn Lew, Christina M. Lockwood, Rizwan Naeem, Hasan Rizvi, Julian Sanz Ortega, Kate Shane-Carson, Mark E. Sobel, Eric Suarez, Laura J. Tafe, Jason Wang, Rebecca L. Wilcox

Publikováno v: Genetics in Medicine. 23:1151-1157

Purpose To assess, from the student perspective, medical school training in genetics and genomics. Methods In 2019, the Undergraduate Training in Genomics (UTRIG) Working Group developed genetics-related survey and knowledge questions for the RISE-FI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a957ed3bb096446b5548bd9f10550137
https://doi.org/10.1038/s41436-021-01100-5

Hereditary Risk for Cancer

Autor: Kate Shane-Carson, Joanne M. Jeter

Publikováno v: Fundamentals of Cancer Prevention ISBN: 9783030159344

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b66b657b3b229a9702d1bf6a47b90e78
https://doi.org/10.1007/978-3-030-15935-1_6

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Autor: Kristi K. Fitzgerald, Paige Kaplan, Manuela Priolo, Patrick Edery, Maarit Peippo, Kate Shane, Holly H. Hobart, Esra Manguoğlu, Edwin J. Young, Carolyn B. Mervis, Yves Lacassie, Masafumi Morimoto, Cédric Howald, Lucy R. Osborne, Sibel Berker-Karauzum, Ariel M. Pani, Alexandre Reymond, Colleen A. Morris, Ronald G. Gregg, Christian R. Marshall, Orsetta Zuffardi, May Tassabehji, Ikuko Kondo, Stephen W. Scherer, Mary Louise Freckmann

Publikováno v: The American Journal of Human Genetics. 83(1):106-111

Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f5c8785609bc173c596be5c3a450ef8

Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.

Autor: Espinel, Whitney¹ (AUTHOR) whitney.espinel@hci.utah.edu, Champine, Marjan¹ (AUTHOR) mjchampine@gmail.com, Hampel, Heather² (AUTHOR) hhampel@coh.org, Jeter, Joanne² (AUTHOR) joanne.jeter@hci.utah.edu, Sweet, Kevin² (AUTHOR) kevin.sweet@osumc.edu, Pilarski, Robert² (AUTHOR) rpilarski@ambrygen.com, Pearlman, Rachel² (AUTHOR) rachel.pearlman@osumc.edu, Shane, Kate² (AUTHOR) kate.shane@osumc.edu, Brock, Pamela² (AUTHOR) pamela.brock@osumc.edu, Westman, Judith A.² (AUTHOR) judith.westman@osumc.edu, Kipnis, Lindsay³ (AUTHOR) lindsay_kipnis@dfci.harvard.edu, Sotelo, Jilliane³ (AUTHOR) jilliane.sotelo@thermofisher.com, Chittenden, Anu³ (AUTHOR) anu_chittenden@dfci.harvard.edu, Culver, Samantha³ (AUTHOR) samantha.culver@invitae.com, Stopfer, Jill E.³ (AUTHOR) jille_stopfer@dfci.harvard.edu, Schneider, Katherine A.³ (AUTHOR) katherine_schneider@dfci.harvard.edu, Sacca, Rosalba³ (AUTHOR) saccar@mskcc.org, Koeller, Diane R.³ (AUTHOR) dianer_koeller@dfci.harvard.edu, Gaonkar, Shraddha³ (AUTHOR) shraddha.gaonkar@invitae.com, Vaccari, Erica³ (AUTHOR) erica.m.vaccari@gmail.com

Publikováno v: Cancers. May2022, Vol. 14 Issue 10, p2426-N.PAG. 13p.