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

Integrating breast tumour homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification

整合乳腺肿瘤同源重组缺陷状态以辅助生殖系 BRCA1 和 BRCA2 变异分类

Fortuno, Cristina; Zhang, Jia; Koufariotis, Lambros T; Hollway, Georgina; Wood, Scott; Pearson, John V; Simpson, Peter T; Lakhani, Sunil R; McCart Reed, Amy E; Thorne, Heather; Mann, G Bruce; Skandarajah, Anita R; Devereux, Lisa; Zhao, Qihong; De Silva, Dilanka L; Lindeman, Geoffrey J; Waring, Paul; James, Paul A; Campbell, Ian; Spurdle, Amanda B; Waddell, Nicola

BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types

BRCA1 和 BRCA2 致病性变异会增加四种不太常见的癌症的风险

Sasagawa, H; Endo, M; Iwasaki, Y; Usui, Y; Koyanagi, Y N; Innella, G; Hadler, J; Parsons, M T; Numakura, K; Kamatani, Y; Murakami, Y; Matsuo, K; Matsuda, K; Spurdle, A B; Habuchi, T; Momozawa, Y

Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer

大规模荟萃分析和精准功能分析确定了FANCM区域中PTV赋予ER阴性和三阴性乳腺癌不同风险的基因表达谱。

Billaud, Amandine; Figlioli, Gisella; Mooser, Clémence; Casamassima, Irene; Azzoni, Violette; Srivatsa, Jahnavi; Colombo, Mara; Caleca, Laura; Ahearn, Thomas U; Andrulis, Irene L; Antoniou, Antonis C; Beckmann, Matthias W; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V; Bolla, Manjeet K; Bonanni, Bernardo; Brüning, Thomas; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Cessna, Melissa H; Chang-Claude, Jenny; Czene, Kamila; Dennis, Joe; Devilee, Peter; Dörk, Thilo; Dunning, Alison M; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine D; Gabrielson, Marike; Gago-Dominguez, Manuela; González-Neira, Anna; Guénel, Pascal; Hadjisavvas, Andreas; Hahnen, Eric; Hamann, Ute; Hillemanns, Peter; Hollestelle, Antoinette; Hooning, Maartje J; Hoppe, Reiner; Howell, Anthony; Jakubowska, Anna; Kristensen, Vessela N; Lubiński, Jan; Lush, Michael; Manoukian, Siranoush; Mavroudis, Dimitrios; Milne, Roger L; Mulligan, Anna Marie; Newman, William G; Obi, Nadia; Panayiotidis, Mihalis I; Pita, Guillermo; Rashid, Muhammad U; Rhenius, Valerie; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Shah, Mitul; Southey, Melissa C; Spurdle, Amanda B; Tomlinson, Ian; Truong, Thérèse; Wang, Qin; Wendt, Camilla; Auer, Paul L; Boddicker, Nicholas J; Bodelon, Clara; Burnside, Elizabeth S; Chen, Fei; Couch, Fergus J; Domchek, Susan M; Eliassen, Heather A; Haiman, Christopher; Hodge, James M; Hu, Chunling; Huang, Hongyan; Lindstrom, Sara; Martinez, Maria Elena; Nathanson, Katherine L; Neuhausen, Susan L; O'Brien, Katie M; Olson, Janet E; Palmer, Julie R; Patel, Alpa V; Ruddy, Kathryn J; Sandler, Dale P; Teras, Lauren R; Weinberg, Clarice R; Weitzel, Jeffrey N; Winham, Stacey J; Yadav, Siddhartha; Yao, Song; Zirpoli, Gary; Janatova, Marketa; Kleibl, Zdenek; Kleiblova, Petra; Soukupova, Jana; Zhao, Qihong; Devereux, Lisa; James, Paul A; Campbell, Ian G; Nguyen-Dumont, Tu; Dowty, James G; Andrieu, Nadine; Lesueur, Fabienne; Stoppa-Lyonnet, Dominique; Hoya, Miguel de la; Radice, Paolo; Sørensen, Claus Storgaard; Peterlongo, Paolo

Urgent need to recognize that Disease-Causing TP53 variants with atypical penetrance require distinct clinical recommendations

迫切需要认识到,具有非典型外显率的致病性TP53变异需要不同的临床建议。

Kratz, Christian P; Frone, Megan N; Khincha, Payal P; Hatton, Jessica N; Penkert, Judith; James, Paul A; Spurdle, Amanda B; Fortuno, Cristina

Cancer genomic profiling predicts pathogenicity of BRCA1 and BRCA2 variants

癌症基因组分析预测BRCA1和BRCA2变异的致病性

Kondrashova, Olga; Johnston, Rebecca L; Parsons, Michael T; Davidson, Aimee L; Canson, Daffodil M; Tran, Khoa A; Cline, Melissa S; Waddell, Nicola; Sivakumar, Smruthy; Sokol, Ethan S; Jin, Dexter X; Pavlick, Dean C; Decker, Brennan; Frampton, Garrett M; Spurdle, Amanda B

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

对超过40万名女性的分析为BRCA1和BRCA2变异分类提供了病例对照证据。

Zanti, Maria; O'Mahony, Denise G; Parsons, Michael T; Dorling, Leila; Dennis, Joe; Boddicker, Nicholas J; Chen, Wenan; Hu, Chunling; Naven, Marc; Yiangou, Kristia; Ahearn, Thomas U; Ambrosone, Christine B; Andrulis, Irene L; Antoniou, Antonis C; Auer, Paul L; Baynes, Caroline; Bodelon, Clara; Bogdanova, Natalia V; Bojesen, Stig E; Bolla, Manjeet K; Brantley, Kristen D; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Cessna, Melissa H; Chang-Claude, Jenny; Chen, Fei; Chenevix-Trench, Georgia; Conroy, Don M; Czene, Kamila; De Nicolo, Arcangela; Domchek, Susan M; Dörk, Thilo; Dunning, Alison M; Eliassen, A Heather; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine D; Flyger, Henrik; Gago-Dominguez, Manuela; García-Closas, Montserrat; Glendon, Gord; González-Neira, Anna; Grassmann, Felix; Hadjisavvas, Andreas; Haiman, Christopher A; Hamann, Ute; Hart, Steven N; Hartman, Mikael B A; Ho, Weang-Kee; Hodge, James M; Hoppe, Reiner; Howell, Sacha J; Jakubowska, Anna; Khusnutdinova, Elza K; Ko, Yon-Dschun; Kraft, Peter; Kristensen, Vessela N; Lacey, James V; Li, Jingmei; Lim, Geok Hoon; Lindström, Sara; Lophatananon, Artitaya; Luccarini, Craig; Mannermaa, Arto; Martinez, Maria Elena; Mavroudis, Dimitrios; Milne, Roger L; Muir, Kenneth; Nathanson, Katherine L; Nuñez-Torres, Rocio; Obi, Nadia; Olson, Janet E; Palmer, Julie R; Panayiotidis, Mihalis I; Patel, Alpa V; Pharoah, Paul D P; Polley, Eric C; Rashid, Muhammad U; Ruddy, Kathryn J; Saloustros, Emmanouil; Sawyer, Elinor J; Schmidt, Marjanka K; Southey, Melissa C; Tan, Veronique Kiak-Mien; Teo, Soo Hwang; Teras, Lauren R; Torres, Diana; Trentham-Dietz, Amy; Truong, Thérèse; Vachon, Celine M; Wang, Qin; Weitzel, Jeffrey N; Yadav, Siddhartha; Yao, Song; Zirpoli, Gary R; Cline, Melissa S; Devilee, Peter; Tavtigian, Sean V; Goldgar, David E; Couch, Fergus J; Easton, Douglas F; Spurdle, Amanda B; Michailidou, Kyriaki

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

基于贝叶斯方法的定量基因特异性变异分类:更新的专家组建议改进了李-弗劳梅尼综合征TP53种系变异的分类。

Fortuno, Cristina; Frone, Megan N; Mester, Jessica; de la Hoya, Miguel; Mai, Phuong L; Pesaran, Tina; Achatz, Maria Isabel; Bassett, Rebecca; Bustamante, Carolina; Crowley, Stephanie; de Andrade, Kelvin Cesar; Evans, D Gareth; Feng, Bingjian; Fuqua, Laura; Harrell, Maria Isabel; Hatton, Jessica N; Huether, Robert; Kesserwan, Chimene; Lee, Kristy; MacFarland, Suzanne P; Maciaszek, Jamie L; Maxwell, Kara; McGoldrick, Kelly; Murphy, Maureen; Nehoray, Bita; Penkert, Judith; Pinto, Emilia Modolo; Plon, Sharon E; Schwartz-Levine, Alison; Thompson, Ashley S; Wang, Wenyi; Zambetti, Gerard P; Zelley, Kristin; James, Paul A; Savage, Sharon A; Kratz, Christian P; Spurdle, Amanda B

ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence

ACMG/AMP对BRCA1错义变异的解读:基于结构的评分为PP3/BP4计算证据增加了证据强度的细粒度

Ramadane-Morchadi, Lobna; Rotenberg, Nitsan; Esteban-Sánchez, Ada; Fortuno, Cristina; Gómez-Sanz, Alicia; Varga, Matthew J; Chamberlin, Adam; Richardson, Marcy E; Michailidou, Kyriaki; Pérez-Segura, Pedro; Spurdle, Amanda B; de la Hoya, Miguel

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

ACMG/AMP变异注释指南中关于种系PALB2序列变异分析的规范

Richardson, Marcy E; Bishop, Megan F H; Holdren, Megan A; de la Hoya, Miguel; Spurdle, Amanda B; Tavtigian, Sean V; Brannan, Terra; Young, Colin C; Zec, Lauren; Hiraki, Susan; Turnbull, Clare; Tischkowitz, Marc; Bernstein, Kara A; Masson, Jean-Yves; McNulty, Shannon M; Pesaran, Tina; Monteiro, Alvaro N; Walker, Logan C; Foulkes, William D; Couch, Fergus J

Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants

蛋白质稳定性评分与AlphaMissense评分的整合提高了对p53错义突变和框内氨基酸缺失变异的生物信息学影响预测。

Rotenberg, Nitsan; Fortuno, Cristina; Varga, Matthew J; Chamberlin, Adam C; Ramadane-Morchadi, Lobna; Feng, Bing-Jian; de la Hoya, Miguel; Richardson, Marcy E; Spurdle, Amanda B