未登录A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations一种以基因型为首要方法，识别出具有不同疾病关联的高发生率NF1致病性变异。
Safonov, Anton; Nomakuchi, Tomoki T.; Chao, Elizabeth; Horton, Carrie; Dolinsky, Jill S.; Yussuf, Amal; Speare, Virginia; Li, Shuwei; Bogus, Zoe C.; Bonanni, Maria; Raper, Anna; Odia, Trust; Wubbenhorst, Bradley S.; Faulders, Elsa; Schuth, Elisabeth M.; Loranger, Kate; Zhang, Jingwen; Scalise, Carly Bess; ElNaggar, Adam; Sha, Youbao; Felker, Stephanie A.; Weitzel, Jeffrey; Kallish, Staci; Ritchie, Marylyn D.; Nathanson, Katherine L.; Drivas, Theodore G. .png)
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收藏Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelinesFortuno, Cristina; Michailidou, Kyriaki; Parsons, Michael; Dolinsky, Jill S.; Pesaran, Tina; Yussuf, Amal; Mester, Jessica L.; Hruska, Kathleen S.; Hiraki, Susan; O'Connor, Robert; Chan, Raymond C.; Kim, Serra; Tavtigian, Sean, V; Goldgar, David; James, Paul A.; Spurdle, Amanda B. 分享 收藏 Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C意义不确定的变体的功能和临床表征确定了RAD51C中失活错义变体的热点Hu, Chunling; Nagaraj, Anil Belur; Shimelis, Hermela; Montalban, Gemma; Lee, Kun Y.; Huang, Huaizhi; Lumby, Carolyn A.; Na, Jie; Susswein, Lisa R.; Roberts, Maegan E.; Marshall, Megan L.; Hiraki, Susan; LaDuca, Holly; Chao, Elizabeth; Yussuf, Amal; Pesaran, Tina; Neuhausen, Susan L.; Haiman, Christopher A.; Kraft, Peter; Lindstrom, Sara; Palmer, Julie R.; Teras, Lauren R.; Vachon, Celine M.; Yao, Song; Ong, Irene; Nathanson, Katherine L.; Weitzel, Jeffrey N.; Boddicker, Nicholas; Gnanaolivu, Rohan; Polley, Eric C.; Mer, Georges; Cui, Gaofeng; Karam, Rachid; Richardson, Marcy E.; Domchek, Susan M.; Yadav, Siddhartha; Hruska, Kathleen S.; Dolinsky, Jill; Weroha, S. John; Hart, Steven N.; Simard, Jacques; Masson, Jean Yves; Pang, Yuan-Ping; Couch, Fergus J. 分享 收藏 Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity可疑克隆造血作为TP53种系变异致病性的自然功能测定Fortuno, Cristina; McGoldrick, Kelly; Pesaran, Tina; Dolinsky, Jill; Hoang, Lily; Weitzel, Jeffrey N.; Beshay, Victoria; San Leong, Huei; James, Paul A.; Spurdle, Amanda B. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast CancerYadav, Siddhartha; LaDuca, Holly; Polley, Eric C.; Hu, Chunling; Niguidula, Nancy; Shimelis, Hermela; Lilyquist, Jenna; Na, Jie; Lee, Kun Y.; Gutierrez, Stephanie; Yussuf, Amal; Hart, Steven N.; Davis, Brigette Tippin; Chao, Elizabeth C.; Pesaran, Tina; Goldgar, David E.; Dolinsky, Jill S.; Couch, Fergus J. 分享 收藏 A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple CancersPowers, Jacquelyn; Pinto, Emilia M.; Barnoud, Thibaut; Leung, Jessica C.; Martynyuk, Tetyana; Kossenkov, Andrew, V; Philips, Aaron H.; Desai, Heena; Hausler, Ryan; Kelly, Gregory; Le, Anh N.; Li, Marilyn M.; MacFarland, Suzanne P.; Pyle, Louise C.; Zelley, Kristin; Nathanson, Katherine L.; Domchek, Susan M.; Slavin, Thomas P.; Weitzel, Jeffrey N.; Stopfer, Jill E.; Garber, Judy E.; Joseph, Vijai; Offit, Kenneth; Dolinsky, Jill S.; Gutierrez, Stephanie; McGoldrick, Kelly; Couch, Fergus J.; Levin, Brooke; Edelman, Morris C.; Levy, Carolyn Fein; Spunt, Sheri L.; Kriwacki, Richard W.; Zambetti, Gerard P.; Ribeiro, Raul C.; Murphy, Maureen E.; Maxwell, Kara N. 分享 收藏 Diagnosing hereditary cancer predisposition in men with prostate cancerPritzlaff, Mary; Tian, Yuan; Reineke, Patrick; Stuenkel, A. J.; Allen, Kyle; Gutierrez, Stephanie; Jackson, Michelle; Dolinsky, Jill S.; LaDuca, Holly; Xu, Jianfeng; Black, Mary Helen; Helfand, Brian T. 分享 收藏 Mutation prevalence tables for hereditary cancer derived from multigene panel testingHart, Steven N.; Polley, Eric C.; Yussuf, Amal; Yadav, Siddhartha; Goldgar, David E.; Hu, Chunling; LaDuca, Holly; Smith, Laura P.; Fujimoto, June; Li, Shuwei; Couch, Fergus J.; Dolinsky, Jill S. 分享 收藏 Suggested application of HER2+breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines在ACMG/AMP指南中建议将HER2乳腺肿瘤表型应用于种系TP53变异分类Fortuno, Cristina; Mester, Jessica; Pesaran, Tina; Weitzel, Jeffrey N.; Dolinsky, Jill; Yussuf, Amal; McGoldrick, Kelly; Garber, Judy E.; Savage, Sharon A.; Khincha, Payal P.; Evans, D. Gareth; Achatz, Maria Isabel; Nichols, Kim E.; Maxwell, Kara N.; Schiffman, Joshua D.; Sandoval, Renata; James, Paul A.; Spurdle, Amanda B. 分享 收藏 The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing CohortHu, Chunling; Polley, Eric C.; Yadav, Siddhartha; Lilyquist, Jenna; Shimelis, Hermela; Na, Jie; Hart, Steven N.; Goldgar, David E.; Shah, Swati; Pesaran, Tina; Dolinsky, Jill S.; LaDuca, Holly; Couch, Fergus J. 分享 收藏 Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohortLi, Hongyan; LaDuca, Holly; Pesaran, Tina; Chao, Elizabeth C.; Dolinsky, Jill S.; Parsons, Michael; Spurdle, Amanda B.; Polley, Eric C.; Shimelis, Hermela; Hart, Steven N.; Hu, Chunling; Couch, Fergus J.; Goldgar, David E. 分享 收藏 Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D与RAD51C和RAD51D致病变异相关的卵巢癌和乳腺癌风险Yang, Xin; Song, Honglin; Leslie, Goska; Engel, Christoph; Hahnen, Eric; Auber, Bernd; Horvath, Judit; Kast, Karin; Niederacher, Dieter; Turnbull, Clare; Houlston, Richard; Hanson, Helen; Loveday, Chey; Dolinsky, Jill S.; LaDuca, Holly; Ramus, Susan J.; Menon, Usha; Rosenthal, Adam N.; Jacobs, Ian; Gayther, Simon A.; Dicks, Ed; Nevanlinna, Heli; Aittomaeki, Kristiina; Pelttari, Liisa M.; Ehrencrona, Hans; Borg, Ake; Kvist, Anders; Rivera, Barbara; Hansen, Thomas V. O.; Djursby, Malene; Lee, Andrew; Dennis, Joe; Bowtell, David D.; Traficante, Nadia; Diez, Orland; Balmana, Judith; Gruber, Stephen B.; Chenevix-Trench, Georgia; Jensen, Allan; Kjaer, Susanne K.; Hogdall, Estrid; Castera, Laurent; Garber, Judy; Janavicius, Ramunas; Osorio, Ana; Golmard, Lisa; Vega, Ana; Couch, Fergus J.; Robson, Mark; Gronwald, Jacek; Domchek, Susan M.; Culver, Julie O.; de la Hoya, Miguel; Easton, Douglas F.; Foulkes, William D.; Tischkowitz, Marc; Meindl, Alfons; Schmutzler, Rita K.; Pharoah, Paul D. P.; Antoniou, Antonis C. 分享 收藏 分享 收藏 Concurrent DNA and RNA genetic testing identifies more patients with hereditary breast cancer than DNA testing aloneLaDuca, Holly; Hoang, Lily; Dolinsky, Jill; Profato, Jessica; Yussuf, Amal; Horton, Carolyn; Dresbold, Cara; Garcia, Cassie; Koptiuch, Catherine; Dondanville, Danielle; McKenna, Danielle; Menashe, Danielle; Wham, Deborah; Nathan, Deepika; Samad, Diane; Hoodfar, Elizabeth; Patel, Gayle; Moore, Jen; Geurts, Jennifer; Lee, John; Milliron, Kara; Pyrtel, Khateriaa; Farmer, Meagan; Seidel, Meredith; Depas, Morgan; Morman, Nichole; Tan, Olivia; Krukenberg, Rebekah; Pilarski, Rob; Stachowiak, Samantha; Jenkinson, Sandra; Pirzadeh-Miller, Sara; Gaonkar, Shraddha; Demarco, Tiffani; Davis, Brigette Tippin; Chao, Elizabeth C.; Karam, Rachid 分享 收藏 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 patientsLaDuca, 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. 分享 收藏 分享 收藏 
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