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

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

PALB2、CHEK2 和 ATM 罕见变异与癌症风险:来自 COGS 的数据

Southey, Melissa C; Goldgar, David E; Winqvist, Robert; Pylkäs, Katri; Couch, Fergus; Tischkowitz, Marc; Foulkes, William D; Dennis, Joe; Michailidou, Kyriaki; van Rensburg, Elizabeth J; Heikkinen, Tuomas; Nevanlinna, Heli; Hopper, John L; Dörk, Thilo; Claes, Kathleen Bm; Reis-Filho, Jorge; Teo, Zhi Ling; Radice, Paolo; Catucci, Irene; Peterlongo, Paolo; Tsimiklis, Helen; Odefrey, Fabrice A; Dowty, James G; Schmidt, Marjanka K; Broeks, Annegien; Hogervorst, Frans B; Verhoef, Senno; Carpenter, Jane; Clarke, Christine; Scott, Rodney J; Fasching, Peter A; Haeberle, Lothar; Ekici, Arif B; Beckmann, Matthias W; Peto, Julian; Dos-Santos-Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Bolla, Manjeet K; Sawyer, Elinor J; Tomlinson, Ian; Kerin, Michael J; Miller, Nicola; Marme, Federik; Burwinkel, Barbara; Yang, Rongxi; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Sanchez, Marie; Bojesen, Stig; Nielsen, Sune F; Flyger, Henrik; Benitez, Javier; Zamora, M Pilar; Perez, Jose Ignacio Arias; Menéndez, Primitiva; Anton-Culver, Hoda; Neuhausen, Susan; Ziogas, Argyrios; Clarke, Christina A; Brenner, Hermann; Arndt, Volker; Stegmaier, Christa; Brauch, Hiltrud; Brüning, Thomas; Ko, Yon-Dschun; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Bogdanova, Natalia V; Antonenkova, Natalia N; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Spurdle, Amanda B; Investigators, kConFab; Wauters, Els; Smeets, Dominiek; Beuselinck, Benoit; Floris, Giuseppe; Chang-Claude, Jenny; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Olson, Janet E; Vachon, Celine; Pankratz, Vernon S; McLean, Catriona; Haiman, Christopher A; Henderson, Brian E; Schumacher, Fredrick; Le Marchand, Loic; Kristensen, Vessela; Alnæs, Grethe Grenaker; Zheng, Wei; Hunter, David J; Lindstrom, Sara; Hankinson, Susan E; Kraft, Peter; Andrulis, Irene; Knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Jukkola-Vuorinen, Arja; Grip, Mervi; Kauppila, Saila; Devilee, Peter; Tollenaar, Robert A E M; Seynaeve, Caroline; Hollestelle, Antoinette; Garcia-Closas, Montserrat; Figueroa, Jonine; Chanock, Stephen J; Lissowska, Jolanta; Czene, Kamila; Darabi, Hatef; Eriksson, Mikael; Eccles, Diana M; Rafiq, Sajjad; Tapper, William J; Gerty, Sue M; Hooning, Maartje J; Martens, John W M; Collée, J Margriet; Tilanus-Linthorst, Madeleine; Hall, Per; Li, Jingmei; Brand, Judith S; Humphreys, Keith; Cox, Angela; Reed, Malcolm W R; Luccarini, Craig; Baynes, Caroline; Dunning, Alison M; Hamann, Ute; Torres, Diana; Ulmer, Hans Ulrich; Rüdiger, Thomas; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Slager, Susan; Toland, Amanda E; Ambrosone, Christine B; Yannoukakos, Drakoulis; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Jones, Michael; González-Neira, Anna; Pita, Guillermo; Alonso, M Rosario; Álvarez, Nuria; Herrero, Daniel; Tessier, Daniel C; Vincent, Daniel; Bacot, Francois; Simard, Jacques; Dumont, Martine; Soucy, Penny; Eeles, Rosalind; Muir, Kenneth; Wiklund, Fredrik; Gronberg, Henrik; Schleutker, Johanna; Nordestgaard, Børge G; Weischer, Maren; Travis, Ruth C; Neal, David; Donovan, Jenny L; Hamdy, Freddie C; Khaw, Kay-Tee; Stanford, Janet L; Blot, William J; Thibodeau, Stephen; Schaid, Daniel J; Kelley, Joseph L; Maier, Christiane; Kibel, Adam S; Cybulski, Cezary; Cannon-Albright, Lisa; Butterbach, Katja; Park, Jong; Kaneva, Radka; Batra, Jyotsna; Teixeira, Manuel R; Kote-Jarai, Zsofia; Olama, Ali Amin Al; Benlloch, Sara; Renner, Stefan P; Hartmann, Arndt; Hein, Alexander; Ruebner, Matthias; Lambrechts, Diether; Van Nieuwenhuysen, Els; Vergote, Ignace; Lambretchs, Sandrina; Doherty, Jennifer A; Rossing, Mary Anne; Nickels, Stefan; Eilber, Ursula; Wang-Gohrke, Shan; Odunsi, Kunle; Sucheston-Campbell, Lara E; Friel, Grace; Lurie, Galina; Killeen, Jeffrey L; Wilkens, Lynne R; Goodman, Marc T; Runnebaum, Ingo; Hillemanns, Peter A; Pelttari, Liisa M; Butzow, Ralf; Modugno, Francesmary; Edwards, Robert P; Ness, Roberta B; Moysich, Kirsten B; du Bois, Andreas; Heitz, Florian; Harter, Philipp; Kommoss, Stefan; Karlan, Beth Y; Walsh, Christine; Lester, Jenny; Jensen, Allan; Kjaer, Susanne Krüger; Høgdall, Estrid; Peissel, Bernard; Bonanni, Bernardo; Bernard, Loris; Goode, Ellen L; Fridley, Brooke L; Vierkant, Robert A; Cunningham, Julie M; Larson, Melissa C; Fogarty, Zachary C; Kalli, Kimberly R; Liang, Dong; Lu, Karen H; Hildebrandt, Michelle A T; Wu, Xifeng; Levine, Douglas A; Dao, Fanny; Bisogna, Maria; Berchuck, Andrew; Iversen, Edwin S; Marks, Jeffrey R; Akushevich, Lucy; Cramer, Daniel W; Schildkraut, Joellen; Terry, Kathryn L; Poole, Elizabeth M; Stampfer, Meir; Tworoger, Shelley S; Bandera, Elisa V; Orlow, Irene; Olson, Sara H; Bjorge, Line; Salvesen, Helga B; van Altena, Anne M; Aben, Katja K H; Kiemeney, Lambertus A; Massuger, Leon F A G; Pejovic, Tanja; Bean, Yukie; Brooks-Wilson, Angela; Kelemen, Linda E; Cook, Linda S; Le, Nhu D; Górski, Bohdan; Gronwald, Jacek; Menkiszak, Janusz; Høgdall, Claus K; Lundvall, Lene; Nedergaard, Lotte; Engelholm, Svend Aage; Dicks, Ed; Tyrer, Jonathan; Campbell, Ian; McNeish, Iain; Paul, James; Siddiqui, Nadeem; Glasspool, Rosalind; Whittemore, Alice S; Rothstein, Joseph H; McGuire, Valerie; Sieh, Weiva; Cai, Hui; Shu, Xiao-Ou; Teten, Rachel T; Sutphen, Rebecca; McLaughlin, John R; Narod, Steven A; Phelan, Catherine M; Monteiro, Alvaro N; Fenstermacher, David; Lin, Hui-Yi; Permuth, Jennifer B; Sellers, Thomas A; Chen, Y Ann; Tsai, Ya-Yu; Chen, Zhihua; Gentry-Maharaj, Aleksandra; Gayther, Simon A; Ramus, Susan J; Menon, Usha; Wu, Anna H; Pearce, Celeste L; Van Den Berg, David; Pike, Malcolm C; Dansonka-Mieszkowska, Agnieszka; Plisiecka-Halasa, Joanna; Moes-Sosnowska, Joanna; Kupryjanczyk, Jolanta; Pharoah, Paul Dp; Song, Honglin; Winship, Ingrid; Chenevix-Trench, Georgia; Giles, Graham G; Tavtigian, Sean V; Easton, Doug F; Milne, Roger L

Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers

RINT1 的罕见突变使携带者易患乳腺癌和林奇综合征癌症

Daniel J Park, Kayoko Tao, Florence Le Calvez-Kelm, Tu Nguyen-Dumont, Nivonirina Robinot, Fleur Hammet, Fabrice Odefrey, Helen Tsimiklis, Zhi L Teo, Louise B Thingholm, Erin L Young, Catherine Voegele, Andrew Lonie, Bernard J Pope, Terrell C Roane, Russell Bell, Hao Hu, Shankaracharya, Chad D Huff, 

Tumour morphology predicts PALB2 germline mutation status

肿瘤形态学可预测PALB2种系突变状态

Teo, Z L; Provenzano, E; Dite, G S; Park, D J; Apicella, C; Sawyer, S D; James, P A; Mitchell, G; Trainer, A H; Lindeman, G J; Shackleton, K; Cicciarelli, L; Buys, S S; Andrulis, I L; Mulligan, A M; Glendon, G; John, E M; Terry, M B; Daly, M; Odefrey, F A; Nguyen-Dumont, T; Giles, G G; Dowty, J G; Winship, I; Goldgar, D E; Hopper, J L; Southey, M C

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

澳大利亚多例乳腺癌家族中PALB2突变的患病率

Teo, Zhi L; Park, Daniel J; Provenzano, Elena; Chatfield, Catherine A; Odefrey, Fabrice A; Nguyen-Dumont, Tu; Dowty, James G; Hopper, John L; Winship, Ingrid; Goldgar, David E; Southey, Melissa C

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

FAVR(罕见变异的过滤和注释):用于促进从大规模并行测序数据集中分析罕见种系遗传变异的方法

Pope, Bernard J; Nguyen-Dumont, Tú; Odefrey, Fabrice; Hammet, Fleur; Bell, Russell; Tao, Kayoko; Tavtigian, Sean V; Goldgar, David E; Lonie, Andrew; Southey, Melissa C; Park, Daniel J

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles

全外显子组测序表明,大部分非BRCA1/BRCA2家族性乳腺癌是由中低外显率的易感基因引起的。

Gracia-Aznarez, Francisco Javier; Fernandez, Victoria; Pita, Guillermo; Peterlongo, Paolo; Dominguez, Orlando; de la Hoya, Miguel; Duran, Mercedes; Osorio, Ana; Moreno, Leticia; Gonzalez-Neira, Anna; Rosa-Rosa, Juan Manuel; Sinilnikova, Olga; Mazoyer, Sylvie; Hopper, John; Lazaro, Conchi; Southey, Melissa; Odefrey, Fabrice; Manoukian, Siranoush; Catucci, Irene; Caldes, Trinidad; Lynch, Henry T; Hilbers, Florentine S M; van Asperen, Christi J; Vasen, Hans F A; Goldgar, David; Radice, Paolo; Devilee, Peter; Benitez, Javier

Rare mutations in XRCC2 increase the risk of breast cancer

XRCC2基因的罕见突变会增加患乳腺癌的风险。

Park, D J; Lesueur, F; Nguyen-Dumont, T; Pertesi, M; Odefrey, F; Hammet, F; Neuhausen, S L; John, E M; Andrulis, I L; Terry, M B; Daly, M; Buys, S; Le Calvez-Kelm, F; Lonie, A; Pope, B J; Tsimiklis, H; Voegele, C; Hilbers, F M; Hoogerbrugge, N; Barroso, A; Osorio, A; Giles, G G; Devilee, P; Benitez, J; Hopper, J L; Tavtigian, S V; Goldgar, D E; Southey, M C

Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk

LSP1 和 RAD51L1 中常见的乳腺癌易感变异与预测乳腺癌风险的乳腺X线摄影密度指标相关。

Vachon, Celine M; Scott, Christopher G; Fasching, Peter A; Hall, Per; Tamimi, Rulla M; Li, Jingmei; Stone, Jennifer; Apicella, Carmel; Odefrey, Fabrice; Gierach, Gretchen L; Jud, Sebastian M; Heusinger, Katharina; Beckmann, Matthias W; Pollan, Marina; Fernández-Navarro, Pablo; Gonzalez-Neira, Anna; Benitez, Javier; van Gils, Carla H; Lokate, Mariëtte; Onland-Moret, N Charlotte; Peeters, Petra H M; Brown, Judith; Leyland, Jean; Varghese, Jajini S; Easton, Douglas F; Thompson, Deborah J; Luben, Robert N; Warren, Ruth M L; Wareham, Nicholas J; Loos, Ruth J F; Khaw, Kay-Tee; Ursin, Giske; Lee, Eunjung; Gayther, Simon A; Ramus, Susan J; Eeles, Rosalind A; Leach, Martin O; Kwan-Lim, Gek; Couch, Fergus J; Giles, Graham G; Baglietto, Laura; Krishnan, Kavitha; Southey, Melissa C; Le Marchand, Loic; Kolonel, Laurence N; Woolcott, Christy; Maskarinec, Gertraud; Haiman, Christopher A; Walker, Kate; Johnson, Nichola; McCormack, Valeria A; Biong, Margarethe; Alnaes, Grethe I G; Gram, Inger Torhild; Kristensen, Vessela N; Børresen-Dale, Anne-Lise; Lindström, Sara; Hankinson, Susan E; Hunter, David J; Andrulis, Irene L; Knight, Julia A; Boyd, Norman F; Figuero, Jonine D; Lissowska, Jolanta; Wesolowska, Ewa; Peplonska, Beata; Bukowska, Agnieszka; Reszka, Edyta; Liu, JianJun; Eriksson, Louise; Czene, Kamila; Audley, Tina; Wu, Anna H; Pankratz, V Shane; Hopper, John L; dos-Santos-Silva, Isabel

A PALB2 mutation associated with high risk of breast cancer

PALB2基因突变与乳腺癌高风险相关

Southey, Melissa C; Teo, Zhi L; Dowty, James G; Odefrey, Fabrice A; Park, Daniel J; Tischkowitz, Marc; Sabbaghian, Nelly; Apicella, Carmel; Byrnes, Graham B; Winship, Ingrid; Baglietto, Laura; Giles, Graham G; Goldgar, David E; Foulkes, William D; Hopper, John L

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics

乳腺癌与五个易感基因位点关联的异质性及其临床和病理特征

Garcia-Closas, Montserrat; Hall, Per; Nevanlinna, Heli; Pooley, Karen; Morrison, Jonathan; Richesson, Douglas A; Bojesen, Stig E; Nordestgaard, Børge G; Axelsson, Christen K; Arias, Jose I; Milne, Roger L; Ribas, Gloria; González-Neira, Anna; Benítez, Javier; Zamora, Pilar; Brauch, Hiltrud; Justenhoven, Christina; Hamann, Ute; Ko, Yon-Dschun; Bruening, Thomas; Haas, Susanne; Dörk, Thilo; Schürmann, Peter; Hillemanns, Peter; Bogdanova, Natalia; Bremer, Michael; Karstens, Johann Hinrich; Fagerholm, Rainer; Aaltonen, Kirsimari; Aittomäki, Kristiina; von Smitten, Karl; Blomqvist, Carl; Mannermaa, Arto; Uusitupa, Matti; Eskelinen, Matti; Tengström, Maria; Kosma, Veli-Matti; Kataja, Vesa; Chenevix-Trench, Georgia; Spurdle, Amanda B; Beesley, Jonathan; Chen, Xiaoqing; Devilee, Peter; van Asperen, Christi J; Jacobi, Catharina E; Tollenaar, Rob A E M; Huijts, Petra E A; Klijn, Jan G M; Chang-Claude, Jenny; Kropp, Silke; Slanger, Tracy; Flesch-Janys, Dieter; Mutschelknauss, Elke; Salazar, Ramona; Wang-Gohrke, Shan; Couch, Fergus; Goode, Ellen L; Olson, Janet E; Vachon, Celine; Fredericksen, Zachary S; Giles, Graham G; Baglietto, Laura; Severi, Gianluca; Hopper, John L; English, Dallas R; Southey, Melissa C; Haiman, Christopher A; Henderson, Brian E; Kolonel, Laurence N; Le Marchand, Loic; Stram, Daniel O; Hunter, David J; Hankinson, Susan E; Cox, David G; Tamimi, Rulla; Kraft, Peter; Sherman, Mark E; Chanock, Stephen J; Lissowska, Jolanta; Brinton, Louise A; Peplonska, Beata; Klijn, Jan G M; Hooning, Maartje J; Meijers-Heijboer, Han; Collee, J Margriet; van den Ouweland, Ans; Uitterlinden, Andre G; Liu, Jianjun; Lin, Low Yen; Yuqing, Li; Humphreys, Keith; Czene, Kamila; Cox, Angela; Balasubramanian, Sabapathy P; Cross, Simon S; Reed, Malcolm W R; Blows, Fiona; Driver, Kristy; Dunning, Alison; Tyrer, Jonathan; Ponder, Bruce A J; Sangrajrang, Suleeporn; Brennan, Paul; McKay, James; Odefrey, Fabrice; Gabrieau, Valerie; Sigurdson, Alice; Doody, Michele; Struewing, Jeffrey P; Alexander, Bruce; Easton, Douglas F; Pharoah, Paul D