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

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.

位点饱和功能筛选可识别与乳腺癌风险增加相关的 PALB2 错义变异。

Boonen Rick A C M, Knaup Sabine C, Menafra Roberta, Braspenning Merel E, Rother Magdalena B, Kleiblova Petra, Janatova Marketa, Ruano Dina, Hu Chunling, Huang Huaizhi, Joseph Vijai, Conry Michael, Heijl Stephan, Vroling Bas, Goeman Jelle J, Varga Matthew, Richardson Marcy E, Kloet Susan L, Couch Fergus J, Vreeswijk Maaike P G, van Attikum Haico

Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants

47种ATM剪接位点变体的实验性错误剪接评估和ACMG/AMP指导分类

Llinares-Burguet, Inés; Sanoguera-Miralles, Lara; Bueno-Martínez, Elena; Esteban-Sanchez, Ada; Romano-Medina, Daniel; Ramadane-Morchadi, Lobna; García-Álvarez, Alicia; Pérez-Segura, Pedro; Easton, Doug F; Devilee, Peter; Vreeswijk, Maaike P G; de la Hoya, Miguel; Velasco-Sampedro, Eladio A

A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification

BRCA1、BRCA2 和 PALB2 变异分类中共分离分析的全面且易于使用的模型

Moghadasi, Setareh; Monajemi, Ramin; Braspenning, Merel E; Vreeswijk, Maaike P G; Rodríguez-Girondo, Mar

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

BRCA1、BRCA2 和 PALB2 相关范可尼贫血:拓展疾病表型特征并预测杂合子乳腺癌风险的潜力

Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil M; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy E; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; García-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna E L; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander J M; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; Hoya, Miguel de la; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike P G; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; Spurdle, Amanda B

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

对 BRCA1、BRCA2 和 PALB2 相关范可尼贫血症的分析表明,可以扩展疾病表型特征并预测杂合子患乳腺癌的风险。

Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; Garcia-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna E L; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander J M; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; de la Hoya, Miguel; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike P G; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; Spurdle, Amanda B

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

ClinGen ENIGMA BRCA1 和 BRCA2 变异注释专家组针对基因特异性 ACMG/AMP 变异分类提出的循证建议

Parsons, Michael T; de la Hoya, Miguel; Richardson, Marcy E; Tudini, Emma; Anderson, Michael; Berkofsky-Fessler, Windy; Caputo, Sandrine M; Chan, Raymond C; Cline, Melissa S; Feng, Bing-Jian; Fortuno, Cristina; Gomez-Garcia, Encarna; Hadler, Johanna; Hiraki, Susan; Holdren, Megan; Houdayer, Claude; Hruska, Kathleen; James, Paul; Karam, Rachid; Leong, Huei San; Martins, Alexandra; Mensenkamp, Arjen R; Monteiro, Alvaro N; Nathan, Vaishnavi; O'Connor, Robert; Pedersen, Inge Sokilde; Pesaran, Tina; Radice, Paolo; Schmidt, Gunnar; Southey, Melissa; Tavtigian, Sean; Thompson, Bryony A; Toland, Amanda E; Turnbull, Clare; Vogel, Maartje J; Weyandt, Jamie; Wiggins, George A R; Zec, Lauren; Couch, Fergus J; Walker, Logan C; Vreeswijk, Maaike P G; Goldgar, David E; Spurdle, Amanda B

The impact of coding germline variants on contralateral breast cancer risk and survival

编码种系变异对对侧乳腺癌风险和生存率的影响

Morra, Anna; Mavaddat, Nasim; Muranen, Taru A; Ahearn, Thomas U; Allen, Jamie; Andrulis, Irene L; Auvinen, Päivi; Becher, Heiko; Behrens, Sabine; Blomqvist, Carl; Bojesen, Stig E; Bolla, Manjeet K; Brauch, Hiltrud; Camp, Nicola J; Carvalho, Sara; Castelao, Jose E; Cessna, Melissa H; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Czene, Kamila; Decker, Brennan; Dennis, Joe; Dörk, Thilo; Dorling, Leila; Dunning, Alison M; Ekici, Arif B; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine D; Flyger, Henrik; Gago-Dominguez, Manuela; García-Closas, Montserrat; Geurts-Giele, Willemina R R; Giles, Graham G; Guénel, Pascal; Gündert, Melanie; Hahnen, Eric; Hall, Per; Hamann, Ute; Harrington, Patricia A; He, Wei; Heikkilä, Päivi; Hooning, Maartje J; Hoppe, Reiner; Howell, Anthony; Humphreys, Keith; Jakubowska, Anna; Jung, Audrey Y; Keeman, Renske; Kristensen, Vessela N; Lubiński, Jan; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Mavroudis, Dimitrios; Milne, Roger L; Mulligan, Anna Marie; Newman, William G; Park-Simon, Tjoung-Won; Peterlongo, Paolo; Pharoah, Paul D P; Rhenius, Valerie; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Shah, Mitul; Spurdle, Amanda B; Tomlinson, Ian; Truong, Thérèse; van Veen, Elke M; Vreeswijk, Maaike P G; Wang, Qin; Wendt, Camilla; Yang, Xiaohong R; Nevanlinna, Heli; Devilee, Peter; Easton, Douglas F; Schmidt, Marjanka K

A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2

利用病例对照数据进行罕见序列变异临床分类的似然比方法:以 BRCA1 和 BRCA2 为例

Zanti, Maria; O'Mahony, Denise G; Parsons, Michael T; Li, Hongyan; Dennis, Joe; Aittomäkkiki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Aronson, Kristan J; Augustinsson, Annelie; Becher, Heiko; Bojesen, Stig E; Bolla, Manjeet K; Brenner, Hermann; Brown, Melissa A; Buys, Saundra S; Canzian, Federico; Caputo, Sandrine M; Castelao, Jose E; Chang-Claude, Jenny; Czene, Kamila; Daly, Mary B; De Nicolo, Arcangela; Devilee, Peter; Dörk, Thilo; Dunning, Alison M; Dwek, Miriam; Eccles, Diana M; Engel, Christoph; Evans, D Gareth; Fasching, Peter A; Gago-Dominguez, Manuela; García-Closas, Montserrat; García-Sáenz, José A; Gentry-Maharaj, Aleksandra; Geurts-Giele, Willemina R R; Giles, Graham G; Glendon, Gord; Goldberg, Mark S; Garcia, Encarna B Gómez; Güendert, Melanie; Guénel, Pascal; Hahnen, Eric; Haiman, Christopher A; Hall, Per; Hamann, Ute; Harkness, Elaine F; Hogervorst, Frans B L; Hollestelle, Antoinette; Hoppe, Reiner; Hopper, John L; Houdayer, Claude; Houlston, Richard S; Howell, Anthony; Jakimovska, Milena; Jakubowska, Anna; Jernström, Helena; John, Esther M; Kaaks, Rudolf; Kitahara, Cari M; Koutros, Stella; Kraft, Peter; Kristensen, Vessela N; Lacey, James V; Lambrechts, Diether; Léoné, Melanie; Lindblom, Annika; Lubiński, Jan; Lush, Michael; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Martinez, Maria Elena; Menon, Usha; Milne, Roger L; Monteiro, Alvaro N; Murphy, Rachel A; Neuhausen, Susan L; Nevanlinna, Heli; Newman, William G; Offit, Kenneth; Park, Sue K; James, Paul; Peterlongo, Paolo; Peto, Julian; Plaseska-Karanfilska, Dijana; Punie, Kevin; Radice, Paolo; Rashid, Muhammad U; Rennert, Gad; Romero, Atocha; Rosenberg, Efraim H; Saloustros, Emmanouil; Sandler, Dale P; Schmidt, Marjanka K; Schmutzler, Rita K; Shu, Xiao-Ou; Simard, Jacques; Southey, Melissa C; Stone, Jennifer; Stoppa-Lyonnet, Dominique; Tamimi, Rulla M; Tapper, William J; Taylor, Jack A; Teo, Soo Hwang; Teras, Lauren R; Terry, Mary Beth; Thomassen, Mads; Troester, Melissa A; Vachon, Celine M; Vega, Ana; Vreeswijk, Maaike P G; Wang, Qin; Wappenschmidt, Barbara; Weinberg, Clarice R; Wolk, Alicja; Zheng, Wei; Feng, Bingjian; Couch, Fergus J; Spurdle, Amanda B; Easton, Douglas F; Goldgar, David E; Michailidou, Kyriaki

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

与9个乳腺癌易感基因的致病性种系变异相关的肿瘤病理学

Mavaddat, Nasim; Dorling, Leila; Carvalho, Sara; Allen, Jamie; González-Neira, Anna; Keeman, Renske; Bolla, Manjeet K; Dennis, Joe; Wang, Qin; Ahearn, Thomas U; Andrulis, Irene L; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Stig E; Briceno, Ignacio; Brüning, Thomas; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Chang-Claude, Jenny; Chanock, Stephen J; Chenevix-Trench, Georgia; Christiansen, Hans; Czene, Kamila; Dörk, Thilo; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine D; Flyger, Henrik; Gabrielson, Marike; Gago-Dominguez, Manuela; Geisler, Jürgen; Giles, Graham G; Guénel, Pascal; Hadjisavvas, Andreas; Hahnen, Eric; Hall, Per; Hamann, Ute; Hartikainen, Jaana M; Hartman, Mikael; Hoppe, Reiner; Howell, Anthony; Jakubowska, Anna; Jung, Audrey; Khusnutdinova, Elza K; Kristensen, Vessela N; Li, Jingmei; Lim, Swee Ho; Lindblom, Annika; Loizidou, Maria A; Lophatananon, Artitaya; Lubinski, Jan; Madsen, Michael J; Mannermaa, Arto; Manoochehri, Mehdi; Margolin, Sara; Mavroudis, Dimitrios; Milne, Roger L; Mohd Taib, Nur Aishah; Morra, Anna; Muir, Kenneth; Obi, Nadia; Osorio, Ana; Park-Simon, Tjoung-Won; Peterlongo, Paolo; Radice, Paolo; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Shah, Mitul; Sim, Xueling; Southey, Melissa C; Thorne, Heather; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Yip, Cheng Har; Spurdle, Amanda B; Vreeswijk, Maaike P G; Dunning, Alison M; García-Closas, Montserrat; Pharoah, Paul D P; Kvist, Anders; Muranen, Taru A; Nevanlinna, Heli; Teo, Soo Hwang; Devilee, Peter; Schmidt, Marjanka K; Easton, Douglas F

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

与乳腺癌易感基因错义变异相关的乳腺癌风险

Dorling, Leila; Carvalho, Sara; Allen, Jamie; Parsons, Michael T; Fortuno, Cristina; González-Neira, Anna; Heijl, Stephan M; Adank, Muriel A; Ahearn, Thomas U; Andrulis, Irene L; Auvinen, Päivi; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V; Bojesen, Stig E; Bolla, Manjeet K; Bremer, Michael; Briceno, Ignacio; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Chang-Claude, Jenny; Chanock, Stephen J; Chenevix-Trench, Georgia; Collée, J Margriet; Czene, Kamila; Dennis, Joe; Dörk, Thilo; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; Gabrielson, Marike; Gago-Dominguez, Manuela; García-Closas, Montserrat; Giles, Graham G; Glendon, Gord; Guénel, Pascal; Gündert, Melanie; Hadjisavvas, Andreas; Hahnen, Eric; Hall, Per; Hamann, Ute; Harkness, Elaine F; Hartman, Mikael; Hogervorst, Frans B L; Hollestelle, Antoinette; Hoppe, Reiner; Howell, Anthony; Jakubowska, Anna; Jung, Audrey; Khusnutdinova, Elza; Kim, Sung-Won; Ko, Yon-Dschun; Kristensen, Vessela N; Lakeman, Inge M M; Li, Jingmei; Lindblom, Annika; Loizidou, Maria A; Lophatananon, Artitaya; Lubiński, Jan; Luccarini, Craig; Madsen, Michael J; Mannermaa, Arto; Manoochehri, Mehdi; Margolin, Sara; Mavroudis, Dimitrios; Milne, Roger L; Mohd Taib, Nur Aishah; Muir, Kenneth; Nevanlinna, Heli; Newman, William G; Oosterwijk, Jan C; Park, Sue K; Peterlongo, Paolo; Radice, Paolo; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Shah, Mitul; Sim, Xueling; Southey, Melissa C; Surowy, Harald; Suvanto, Maija; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; van Asperen, Christi J; Waltes, Regina; Wang, Qin; Yang, Xiaohong R; Pharoah, Paul D P; Schmidt, Marjanka K; Benitez, Javier; Vroling, Bas; Dunning, Alison M; Teo, Soo Hwang; Kvist, Anders; de la Hoya, Miguel; Devilee, Peter; Spurdle, Amanda B; Vreeswijk, Maaike P G; Easton, Douglas F