日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

接受遗传性癌症检测的 43,000 名患者的突变和剪接情况

Carolyn Horton, Ashley Cass, Blair R Conner, Lily Hoang, Heather Zimmermann, Nelly Abualkheir, David Burks, Dajun Qian, Bhuvan Molparia, Huy Vuong, Holly LaDuca, Jessica Grzybowski, Kate Durda, Robert Pilarski, Jessica Profato, Katherine Clayback, Martin Mahoney, Courtney Schroeder, Wilfredo Torres-

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

利用捕获式RNA测序技术分析剪接谱,可识别肿瘤抑制基因中的致病性种系变异。

Landrith, Tyler; Li, Bing; Cass, Ashley A; Conner, Blair R; LaDuca, Holly; McKenna, Danielle B; Maxwell, Kara N; Domchek, Susan; Morman, Nichole A; Heinlen, Christopher; Wham, Deborah; Koptiuch, Cathryn; Vagher, Jennie; Rivera, Ragene; Bunnell, Ann; Patel, Gayle; Geurts, Jennifer L; Depas, Morgan M; Gaonkar, Shraddha; Pirzadeh-Miller, Sara; Krukenberg, Rebekah; Seidel, Meredith; Pilarski, Robert; Farmer, Meagan; Pyrtel, Khateriaa; Milliron, Kara; Lee, John; Hoodfar, Elizabeth; Nathan, Deepika; Ganzak, Amanda C; Wu, Sitao; Vuong, Huy; Xu, Dong; Arulmoli, Aarani; Parra, Melissa; Hoang, Lily; Molparia, Bhuvan; Fennessy, Michele; Fox, Susanne; Charpentier, Sinead; Burdette, Julia; Pesaran, Tina; Profato, Jessica; Smith, Brandon; Haynes, Ginger; Dalton, Emily; Crandall, Joy Rae-Radecki; Baxter, Ruth; Lu, Hsiao-Mei; Tippin-Davis, Brigette; Elliott, Aaron; Chao, Elizabeth; Karam, Rachid

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

遗传性癌症基因检测临床指南:对165,000名高危患者队列中基因特异性癌症关联性和基因检测标准敏感性的评估

LaDuca, Holly; Polley, Eric C; Yussuf, Amal; Hoang, Lily; Gutierrez, Stephanie; Hart, Steven N; Yadav, Siddhartha; Hu, Chunling; Na, Jie; Goldgar, David E; Fulk, Kelly; Smith, Laura Panos; Horton, Carolyn; Profato, Jessica; Pesaran, Tina; Gau, Chia-Ling; Pronold, Melissa; Davis, Brigette Tippin; Chao, Elizabeth C; Couch, Fergus J; Dolinsky, Jill S

Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process

林奇综合征的全面配对肿瘤/生殖系检测:为诊断过程带来解决方案

Monalyn U Salvador, Melissa R F Truelson, Carla Mason, Beth Souders, Holly LaDuca, Brittany Dougall, Mary Helen Black, Kelly Fulk, Jessica Profato, Stephanie Gutierrez, Kory Jasperson, Brigette Tippin-Davis, Hsiao-Mei Lu, Phillip Gray, Swati Shah, Elizabeth C Chao, Negar Ghahramani, Megan Landsverk,

Cancer Incidence in First- and Second-Degree Relatives of BRCA1 and BRCA2 Mutation Carriers

BRCA1和BRCA2基因突变携带者的一级和二级亲属癌症发病率

Streff, Haley; Profato, Jessica; Ye, Yuanqing; Nebgen, Denise; Peterson, Susan K; Singletary, Claire; Arun, Banu K; Litton, Jennifer K

High incidence of germline BRCA mutation in patients with ER low-positive/PR low-positive/HER-2 neu negative tumors

ER低阳性/PR低阳性/HER-2阴性肿瘤患者中生殖系BRCA突变发生率高

Sanford, Rachel A; Song, Juhee; Gutierrez-Barrera, Angelica M; Profato, Jessica; Woodson, Ashley; Litton, Jennifer Keating; Bedrosian, Isabelle; Albarracin, Constance T; Valero, Vicente; Arun, Banu

Predictors that Influence Election of Contralateral Prophylactic Mastectomy among Women with Ductal Carcinoma in Situ who are BRCA-Negative

影响BRCA阴性导管原位癌女性选择对侧预防性乳房切除术的预测因素

Elsayegh, Nisreen; Profato, Jessica; Barrera, Angelica M Gutierrez; Lin, Heather; Kuerer, Henry M; Ardic, Can; Litton, Jennifer K; Tripathy, Debasish; Arun, Banu K

Breast cancer, BRCA mutations, and attitudes regarding pregnancy and preimplantation genetic diagnosis

乳腺癌、BRCA基因突变以及对妊娠和胚胎植入前遗传学诊断的态度

Woodson, Ashley H; Muse, Kimberly I; Lin, Heather; Jackson, Michelle; Mattair, Danielle N; Schover, Leslie; Woodard, Terri; McKenzie, Laurie; Theriault, Richard L; Hortobágyi, Gabriel N; Arun, Banu; Peterson, Susan K; Profato, Jessica; Litton, Jennifer K

Breast cancer in the young: role of the geneticist

年轻女性乳腺癌:遗传学家的作用

Woodson, Ashley H; Profato, Jessica L; Muse, Kimberly I; Litton, Jennifer K