未登录 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
Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception (Mar 01, 2023) Bychkovsky, Brittany L.; Lo, Min-Tzu; Yussuf, Amal; Horton, Carrie; Hemyari, Parichehr; LaDuca, Holly; Garber, Judy E.; Scheib, Rochelle; Rana, Huma Q. 分享 收藏
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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach 临床，剪接和功能分析以分类BRCA2外显子3变体: 基于点的ACMG/AMP方法的应用 Thomassen, Mads; Mesman, Romy L. S.; Hansen, Thomas V. O.; Menendez, Mireia; Rossing, Maria; Esteban-Sanchez, Ada; Tudini, Emma; Torngren, Therese; Parsons, Michael T.; Pedersen, Inge S.; Teo, Soo H.; Kruse, Torben A.; Moller, Pal; Borg, Ake; Jensen, Uffe B.; Christensen, Lise L.; Singer, Christian F.; Muhr, Daniela; Santamarina, Marta; Brandao, Rita; Andresen, Brage S.; Feng, Bing-Jian; Canson, Daffodil; Richardson, Marcy E.; Karam, Rachid; Pesaran, Tina; LaDuca, Holly; Conner, Blair R.; Abualkheir, Nelly; Hoang, Lily; Calleja, Fabienne M. G. R.; Andrews, Lesley; James, Paul A.; Bunyan, Dave; Hamblett, Amanda; Radice, Paolo; Goldgar, David E.; Walker, Logan C.; Engel, Christoph; Claes, Kathleen B. M.; Machackova, Eva; Baralle, Diana; Viel, Alessandra; Wappenschmidt, Barbara; Lazaro, Conxi; Vega, Ana; Vreeswijk, Maaike P. G.; de la Hoya, Miguel; Spurdle, Amanda B. 分享 收藏
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Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield Horton, Carolyn; LaDuca, Holly; Deckman, Ashley; Durda, Kate; Jackson, Michelle; Richardson, Marcy E.; Tian, Yuan; Yussuf, Amal; Jasperson, Kory; Else, Tobias 分享 收藏
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD Garrett, Alice; Loveday, Chey; King, Laura; Butler, Samantha; Robinson, Rachel; Horton, Carrie; Yussuf, Amal; Choi, Subin; Torr, Beth; Durkie, Miranda; Burghel, George J.; Drummond, James; Berry, Ian; Wallace, Andrew; Callaway, Alison; Eccles, Diana; Tischkowitz, Marc; Tatton-Brown, Katrina; Snape, Katie; McVeigh, Terri; Izatt, Louise; Woodward, Emma R.; Burnichon, Nelly; Gimenez-Roqueplo, Anne-Paule; Mazzarotto, Francesco; Whiffin, Nicola; Ware, James; Hanson, Helen; Pesaran, Tina; LaDuca, Holly; Buffet, Alexandre; Maher, Eamonn R.; Turnbull, Clare 分享 收藏
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Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance Richardson, Marcy E.; Hu, Chunling; Lee, Kun Y.; LaDuca, Holly; Fulk, Kelly; Durda, Kate M.; Deckman, Ashley M.; Goldgar, David E.; Monteiro, Alvaro N. A.; Gnanaolivu, Rohan; Hart, Steven N.; Polley, Eric C.; Chao, Elizabeth; Pesaran, Tina; Couch, Fergus J. 分享 收藏
Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer Yadav, 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
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Diagnosing hereditary cancer predisposition in men with prostate cancer Pritzlaff, 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 testing Hart, 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
The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort Hu, 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 cohort Li, 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
Rare Germline Pathogenic Mutations of DNA Repair Genes Are Most Strongly Associated with Grade Group 5 Prostate Cancer Wu, Yishuo; Yu, Hongjie; Li, Shuwei; Wiley, Kathleen; Zheng, S. Lilly; LaDuca, Holly; Gielzak, Marta; Na, Rong; Sarver, Brice A. J.; Helfand, Brian T.; Walsh, Patrick C.; Lotan, Tamara L.; Cooney, Kathleen A.; Black, Mary Helen; Xu, Jianfeng; Isaacs, William B. 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
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes 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 分享 收藏
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