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Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate, Version 2.2026 Featured Updates to the NCCN Guidelines 陈, H.H.; 吉里, V.N.; 戈根斯, M.; 尤尔格伦, M.B.; 卡兰, B.Y.; 诺奎斯特, B.S.; 戴利, M.B.; 帕尔, T.; 阿利利, Z.; 阿伦, B.; 等. NCCN指南(R)要点:遗传/家族高风险评估:乳腺、卵巢、胰腺和前列腺,版本2.2026. J. Natl. Compr. Cancer Netw. 2026, 24, 2–10. [Google Scholar] [CrossRef] [PubMed] Cheng, Heather H.; Giri, Veda N.; Goggins, Michael; Yurgelun, Matthew B.; Karlan, Beth Y.; Norquist, Barbara S.; Daly, Mary B.; Pal, Tuya; Alhilli, Zahraa; Arun, Banu; Churpek, Jane; Colonna, Sarah; Domchek, Susan M.; Escobar, Mauricio R.; Fejerman, Laura; Friedman, Susan; Hagemann, Andrea; Hendrix, Ashley; Huo, Dezheng; Hutton, Mollie L.; Kassem, Nawal; Khan, Seema; Kurian, Allison W.; Laronga, Christine; Mak, Julie S.; Maxwell, Kara N.; Mcdonnell, Kevin; Merajver, Sofia D.; Mersch, Jacqueline; Offit, Kenneth; Plichta, Jennifer; Rash, Dominique; Reiser, Gwen; Senter-Jamieson, Leigha; Shannon, Kristen Mahoney; Welborn, Jeanna; Wick, Myra J.; Wood, Marie; Darlow, Susan; Diwan, Zeenat; Dwyer, Mary 分享 收藏
Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue 体细胞嵌合的Li Fraumeni综合征在生殖组织中未被识别 Urban, Rhianna M.; Kanwar, Nisha; Holdren, Megan A.; Hoenig, Megan F.; Rust, Laura M.; Wick, Myra J.; Ferber, Matthew J.; Niu, Zhiyv; Gupta, Sounak; Shen, Wei 分享 收藏
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Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) ATM杂合性胚系致病性变异个体的管理：美国医学遗传学与基因组学学院（ACMG）的临床实践资源 Pal, Tuya; Schon, Katherine R.; Astiazaran-Symonds, Esteban; Balman, Judith; Foulkes, William D.; James, Paul; Klugman, Susan; Livinski, Alicia A.; Mak, Julie S.; Ngeow, Joanne; Voian, Nicoleta; Wick, Myra J.; Hanson, Helen; Stewart, Douglas R.; Tischkowitz, Marc 分享 收藏
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data Ferrer, Alejandro; Duffy, Patrick; Olson, Rory J.; Meiners, Michael A.; Schultz-Rogers, Laura; Macke, Erica L.; Safgren, Stephanie; Morales-Rosado, Joel A.; Cousin, Margot A.; Oliver, Gavin R.; Rider, David; Williams, Megan; Pichurin, Pavel N.; Deyle, David R.; Morava, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klass J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Kaiwar, Charu; Vitek, Carolyn R.; Mcallister, Tammy M.; Wick, Myra J.; Schimmenti, Lisa A.; Lazaridis, Konstantinos N.; Vairo, Filippo Pinto e; Klee, Eric W. 分享 收藏
LETTER TO THE EDITOR Response to Stern 致编辑的信对斯特恩的回应 Hanson, Helen; Astiazaran-Symonds, Esteban; Amendola, Laura M.; Balmana, Judith; Foulkes, William D.; James, Paul; Klugman, Susan; Ngeow, Joanne; Schmutzler, Rita; Voian, Nicoleta; Wick, Myra J.; Pal, Tuya; Tischkowitz, Marc; Stewart, Douglas R. 分享 收藏
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) Hanson, Helen; Astiazaran-Symonds, Esteban; Amendola, Laura M.; Balmana, Judith; Foulkes, William D.; James, Paul; Klugman, Susan; Ngeow, Joanne; Schmutzler, Rita; Voian, Nicoleta; Wick, Myra J.; Pal, Tuya; Tischkowitz, Marc; Stewart, Douglas R. 分享 收藏
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024 Featured Updates to the NCCN Guidelines Daly, Mary B.; Pal, Tuya; Maxwell, Kara N.; Churpek, Jane; Kohlmann, Wendy; Alhilli, Zahraa; Arun, Banu; Buys, Saundra S.; Cheng, Heather; Domchek, Susan M.; Friedman, Susan; Giri, Veda; Goggins, Michael; Hagemann, Andrea; Hendrix, Ashley; Hutton, Mollie L.; Karlan, Beth Y.; Kassem, Nawal; Khan, Seema; Khoury, Katia; Kurian, Allison W.; Laronga, Christine; Mak, Julie S.; Mansour, John; McDonnell, Kevin; Menendez, Carolyn S.; Merajver, Sofia D.; Norquist, Barbara S.; Offit, Kenneth; Rash, Dominique; Reiser, Gwen; Senter-Jamieson, Leigha; Shannon, Kristen Mahoney; Visvanathan, Kala; Welborn, Jeanna; Wick, Myra J.; Wood, Marie; Yurgelun, Matthew B.; Dwyer, Mary A.; Darlow, Susan D. 分享 收藏
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Quantitative Alterations in Complement Alternative Pathway and Related Genetic Analysis in Severe Phenotype Preeclampsia Alrahmani, Layan; Suarez, Maria L. Gonzalez; Cousin, Margot A.; Moyer, Ann M.; Willrich, Maria Alice, V; White, Wendy M.; Wick, Myra J.; Tostrud, Linda J.; Narang, Kavita; Garovic, Vesna D. 分享 收藏
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) Tischkowitz, Marc; Balmana, Judith; Foulkes, William D.; James, Paul; Ngeow, Joanne; Schmutzler, Rita; Voian, Nicoleta; Wick, Myra J.; Stewart, Douglas R.; Pal, Tuya 分享 收藏
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NCCN: Continuing Education Daly, Mary B.; Pilarski, Robert; Yurgelun, Matthew B.; Berry, Michael P.; Buys, Saundra S.; Dickson, Patricia; Domchek, Susan M.; Elkhanany, Ahmed; Friedman, Susan; Garber, Judy E.; Goggins, Michael; Hutton, Mollie L.; Khan, Seema; Klein, Catherine; Kohlmann, Wendy; Kurian, Allison W.; Laronga, Christine; Litton, Jennifer K.; Mak, Julie S.; Menendez, Carolyn S.; Merajver, Sofia D.; Norquist, Barbara S.; Offit, Kenneth; Pal, Tuya; Pederson, Holly J.; Reiser, Gwen; Shannon, Kristen Mahoney; Visvanathan, Kala; Weitzel, Jeffrey N.; Wick, Myra J.; Wisinski, Kari B.; Dwyer, Mary A.; Darlow, Susan D. 分享 收藏
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features Ballout, Rami A.; Dickerson, Cheryl; Wick, Myra J.; Al-Sweel, Najla; Openshaw, Amanda S.; Srivastava, Siddharth; Swanson, Lindsay C.; Bramswig, Nuria C.; Kuechler, Alma; Hong, Bo; Fleming, Leah R.; Curry, Kathryn; Robertson, Stephen P.; Andersen, Erica F.; El-Hattab, Ayman W. 分享 收藏
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias (vol 103, pg 666, 2018) Helbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betul; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Heron, Delphine; Nava, Caroline; Valence, Stephanie; Buratti, Julien; Fagerberg, Christina R.; Soerensen, Kristina P.; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A.; Gunning, Boudewijn; Schelhaas, H. Jurgen; Kruer, Michael C.; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C.; Klee, Eric W.; Tillema, Jan-Mendelt; Payne, Eric T.; Cousin, Margot A.; Kruisselbrink, Teresa M.; Wick, Myra J.; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E.; Katsanis, Nicholas; Corbett, Mark A.; MacLennan, Alastair H.; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H.; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E.; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D.; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D.; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C.; Nolan, Melinda A.; Snell, Russell G.; Lehnert, Klaus; Sadleir, Lynette G.; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J.; Lyons, Michael J.; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M.; Smith, Lacey A.; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J.; Rankin, Julia; Zeman, Adam; Raymond, F. Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B. S.; Scheffer, Ingrid E.; Helbig, Ingo; Zamponi, Gerald W.; Lerche, Holger; Mefford, Heather C. 分享 收藏
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