First international workshop of the ATM and cancer risk group (4-5 December 2019) von Lesueur, Fabienne, Easton, Douglas F, Renault, Anne-Laure, Tavtigian, Sean V, Bernstein, Jonine L, Kote-Jarai, Zsofia, Eeles, Rosalind A, Plaseska-Karanfia, Dijana, Feliubadaló, Lidia, Spanish ATM working group, Arun, Banu, Herold, Natalie, Versmold, Beatrix, Schmutzler, Rita Katharina, GC-HBOC, Nguyen-Dumont, Tú, Southey, Melissa C, Dorling, Leila, Dunning, Alison M, Ghiorzo, Paola, Dalmasso, Bruna Samia, Cavaciuti, Eve, Le Gal, Dorothée, Roberts, Nicholas J, Dominguez-Valentin, Mev, Rookus, Matti, Taylor, Alexander MR, Goldstein, Alisa M, Goldgar, David E, CARRIERS and Ambry Groups, Stoppa-Lyonnet, Dominique, Andrieu, Nadine

Volltext bestellen

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing von Shahmirzadi, Layla, Chao, Elizabeth C., Palmaer, Erika, Parra, Melissa C., Tang, Sha, Gonzalez, Kelly D. Farwell

Volltext

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing von Schmidt, Johanna L., Pizzino, Amy, Nicholl, Jessica, Foley, Allison, Wang, Yue, Rosenfeld, Jill A., Mighion, Lindsey, Bean, Lora, Silva, Cristina, Cho, Megan T., Truty, Rebecca, Garcia, John, Speare, Virginia, Blanco, Kirsten, Powis, Zoe, Hobson, Grace M., Kirwin, Susan, Krock, Bryan, Lee, Hane, Deignan, Joshua L., Westemeyer, Maggie A., Subaran, Ryan L., Thiffault, Isabelle, Tsai, Ellen A., Fang, Terry, Helman, Guy, Vanderver, Adeline

Volltext

Rare Germline Pathogenic Mutations of DNA Repair Genes Are Most Strongly Associated with Grade Group 5 Prostate Cancer von 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.

Volltext

Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions von Balzotti, Marie, Meng, Linyan, Muzzey, Dale, Johansen Taber, Katherine, Beauchamp, Kyle, Curation Team, Myriad Genetics, Curation Team, Baylor Genetics, Mar‐Heyming, Rebecca, Buckley, Bethany, Moyer, Krista

Volltext

First international workshop of the ATM and cancer risk group (4-5 December 2019) von Lesueur, Fabienne, Easton, Douglas F., Renault, Anne-Laure, Tavtigian, Sean V., Bernstein, Jonine L., Kote-Jarai, Zsofia, Eeles, Rosalind A., Plaseska-Karanfia, Dijana, Feliubadaló, Lidia, Arun, Banu, Herold, Natalie, Versmold, Beatrix, Schmutzler, Rita Katharina, Nguyen-Dumont, Tú, Southey, Melissa C., Dorling, Leila, Dunning, Alison M., Ghiorzo, Paola, Dalmasso, Bruna Samia, Cavaciuti, Eve, Le Gal, Dorothée, Roberts, Nicholas J., Dominguez-Valentin, Mev, Rookus, Matti, Taylor, Alexander M. R., Goldstein, Alisa M., Goldgar, David E., Stoppa-Lyonnet, Dominique, Andrieu, Nadine

Volltext

Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls von Lilyquist, Jenna, LaDuca, Holly, Polley, Eric, Davis, Brigette Tippin, Shimelis, Hermela, Hu, Chunling, Hart, Steven N., Dolinsky, Jill S., Couch, Fergus J., Goldgar, David E.

Volltext

Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer von 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

Volltext

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy von de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van ‘t Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C

Volltext

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care von Tandy-Connor, Stephany, Guiltinan, Jenna, Krempely, Kate, LaDuca, Holly, Reineke, Patrick, Gutierrez, Stephanie, Gray, Phillip, Tippin Davis, Brigette

Volltext

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants von Fortuno, Cristina, Lee, Kristy, Olivier, Magali, Pesaran, Tina, Mai, Phuong L., Andrade, Kelvin C., Attardi, Laura D., Crowley, Stephanie, Evans, D. Gareth, Feng, Bing‐Jian, Foreman, Ann K. M., Frone, Megan N., Huether, Robert, James, Paul A., McGoldrick, Kelly, Mester, Jessica, Seifert, Bryce A., Slavin, Thomas P., Witkowski, Leora, Zhang, Liying, Plon, Sharon E., Spurdle, Amanda B., Savage, Sharon A.

Volltext

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines von Fortuno, Cristina, Mester, Jessica, Pesaran, Tina, Weitzel, Jeffrey N., Dolinsky, Jill, Yussuf, Amal, McGoldrick, Kelly, Garber, Judy E., Savage, Sharon A., Khincha, Payal P., Gareth Evans, D., Achatz, Maria Isabel, Nichols, Kim E., Maxwell, Kara N., Schiffman, Joshua D., Sandoval, Renata, James, Paul A., Spurdle, Amanda B.

Volltext

Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer von Moyer, Cassandra L, Ivanovich, Jennifer, Gillespie, Jessica L, Doberstein, Rachel, Radke, Marc R, Richardson, Marcy E, Kaufmann, Scott H, Swisher, Elizabeth M, Goodfellow, Paul J

Volltext

Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer von Hartman, Tiffiney R., Demidova, Elena V., Lesh, Randy W., Hoang, Lily, Richardson, Marcy, Forman, Andrea, Kessler, Lisa, Speare, Virginia, Golemis, Erica A., Hall, Michael J., Daly, Mary B., Arora, Sanjeevani

Volltext

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants : An ENIGMA report von Lopez-Perolio, Irene, Leman, Raphaël, Behar, Raquel, Lattimore, Vanessa, Pearson, John F., Castéra, Laurent, Martins, Alexandra, Vaur, Dominique, Goardon, Nicolas, Davy, Grégoire, Garre, Pilar, García-Barberán, Vanesa, Llovet, Patricia, Pérez-Segura, Pedro, Díaz-Rubio, Eduardo, Caldés, Trinidad, Hruska, Kathleen S., Hsuan, Vickie, Wu, Sitao, Pesaran, Tina, Karam, Rachid, Vallon-Christersson, Johan, Borg, Ake, Investigators, Kconfab, Valenzuela-Palomo, Alberto, Velasco, Eladio Andrés, Southey, Melissa, Vreeswijk, Maaike P.G., Devilee, Peter, Kvist, Anders, Spurdle, Amanda B., Walker, Logan C., Krieger, Sophie, De La Hoya, Miguel

Volltext

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C von 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

Volltext

LBA50Pre-specified interim analysis of GALAHAD: A phase II study of niraparib in patients (pts) with metastatic castration-resistant prostate cancer (mCRPC) and biallelic DNA-repai... von Smith, M R, Sandhu, S K, Kelly, W K, Scher, H I, Efstathiou, E, Lara, P N, Yu, E Y, George, D J, Chi, K N, Saad, F, Summa, J, Freedman, J M, Mason, G E, Zhu, E, Ricci, D, Simon, J S, Cheng, S, Fizazi, K

Volltext

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants von Lee, Kristy, Krempely, Kate, Roberts, Maegan E., Anderson, Michael J., Carneiro, Fatima, Chao, Elizabeth, Dixon, Katherine, Figueiredo, Joana, Ghosh, Rajarshi, Huntsman, David, Kaurah, Pardeep, Kesserwan, Chimene, Landrith, Tyler, Li, Shuwei, Mensenkamp, Arjen R., Oliveira, Carla, Pardo, Carolina, Pesaran, Tina, Richardson, Matthew, Slavin, Thomas P., Spurdle, Amanda B., Trapp, Mackenzie, Witkowski, Leora, Yi, Charles S., Zhang, Liying, Plon, Sharon E., Schrader, Kasmintan A., Karam, Rachid

Volltext

ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder von Simon, Mariella T., Eftekharian, Shaya S., Ferdinandusse, Sacha, Tang, Sha, Naseri, Take, Reupena, Muagututi'a Sefuiva, McGarvey, Stephen T., Minster, Ryan L., Weeks, Daniel E., Nguyen, Daniel D., Lee, Sansan, Ellsworth, Katarzyna A., Vaz, Frédéric M., Dimmock, David, Pitt, James, Abdenur, Jose E.

Volltext

Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition von Kamihara, Junne, Zhou, Jing, LaDuca, Holly, Wassner, Ari J., Dalton, Emily, Garber, Judy E., Black, Mary Helen

Volltext