Insertion of an Alu‐like element in MLH1 intron 7 as a novel cause of Lynch syndrome

por Li, Yirong, Salo‐Mullen, Erin, Varghese, Anna, Trottier, Magan, Stadler, Zsofia K., Zhang, Liying
Publicado 2020

Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome

por Shah, Ibrahim H., Salo-Mullen, Erin E., Amoroso, Kimberly A., Kelsen, David, Stadler, Zsofia K., Hamilton, Jada G.
Publicado 2022

Acquired resistance to immunotherapy in MMR-D pancreatic cancer

por Hu, Zishuo Ian, Hellmann, Matthew D., Wolchok, Jedd D., Vyas, Monika, Shia, Jinru, Stadler, Zsofia K., Diaz, Luis A., O’Reilly, Eileen M.
Publicado 2018

Towards Automation of Germline Variant Curation in Clinical Cancer Genetics

por Ravichandran, Vignesh, Shameer, Zarina, Kemel, Yelena, Walsh, Michael, Cadoo, Karen, Lipkin, Steven, Mandelker, Diana, Zhang, Liying, Stadler, Zsofia, Robson, Mark, Offit, Kenneth, Joseph, Vijai
Publicado 2019

Retained Mismatch Repair Protein Expression Occurs in Approximately 6% of Microsatellite Instability-High Cancers and is Associated with Missense Mutations in Mismatch Repair Genes...

por Hechtman, Jaclyn F., Rana, Satshil, Middha, Sumit, Stadler, Zsofia K., Latham, Alicia, Benayed, Ryma, Soslow, Robert, Ladanyi, Marc, Yaeger, Rona, Zehir, Ahmet, Shia, Jinru
Publicado 2019

Development of a novel measure of advanced cancer patients’ perceived utility of secondary germline findings from tumor genomic profiling

por Hamilton, Jada G., Shah, Ibrahim H., Salafia, Caroline, Schofield, Elizabeth, Garzon, Margaux Genoff, Cadet, Kechna, Stadler, Zsofia K., Hay, Jennifer L., Offit, Kenneth, Robson, Mark E.
Publicado 2023

CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site

por Yelskaya, Zarina, Bacares, Ruben, Salo-Mullen, Erin, Somar, Joshua, Lehrich, Deborah A., Fasaye, Grace-Ann, Coit, Daniel G., Tang, Laura H., Stadler, Zsofia K., Zhang, Liying
Publicado 2016

Intratumoral T-cell repertoires in DNA mismatch repair-proficient and -deficient colon tumors containing high or low numbers of tumor-infiltrating lymphocytes

por Kim, Jin K., Chen, Chin-Tung, Keshinro, Ajaratu, Khan, Asama, Firat, Canan, Vanderbilt, Chad, Segal, Neil, Stadler, Zsofia, Shia, Jinru, Balachandran, Vinod P., Weiser, Martin R.
Publicado 2022

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

por Balmaña, Judith, Digiovanni, Laura, Gaddam, Pragna, Walsh, Michael F., Joseph, Vijai, Stadler, Zsofia K., Nathanson, Katherine L., Garber, Judy E., Couch, Fergus J., Offit, Kenneth, Robson, Mark E., Domchek, Susan M.
Publicado 2016

Assessment of SLX4 Mutations in Hereditary Breast Cancers

por Shah, Sohela, Kim, Yonghwan, Ostrovnaya, Irina, Murali, Rajmohan, Schrader, Kasmintan A., Lach, Francis P., Sarrel, Kara, Rau-Murthy, Rohini, Hansen, Nichole, Zhang, Liyng, Kirchhoff, Tomas, Stadler, Zsofia, Robson, Mark, Vijai, Joseph, Offit, Kenneth, Smogorzewska, Agata
Publicado 2013

Pathogenic Loss-of-Function Germline TERT Mutations in Patients With Solid Tumors

por Walsh, Michael F., Sacca, Rosalba, Wildman, Temima, Amoroso, Kimberly, Kennedy, Jennifer, Zhang, Liying, Birsoy, Ozge, Mandelker, Diana, Steinsnyder, Zoe, Latham, Alicia, Carlo, Maria I., Cadoo, Karen, Kemel, Yelena, Robson, Mark, Stadler, Zsofia K., Offit, Kenneth
Publicado 2019

Cascading After Peridiagnostic Cancer Genetic Testing: An Alternative to Population-Based Screening

por Offit, Kenneth, Tkachuk, Kaitlyn A., Stadler, Zsofia K., Walsh, Michael F., Diaz-Zabala, Hector, Levin, Jeffrey D., Steinsnyder, Zoe, Ravichandran, Vignesh, Sharaf, Ravi N., Frey, Melissa K., Lipkin, Steven M., Robson, Mark E., Hamilton, Jada G., Vijai, Joseph, Mukherjee, Semanti
Publicado 2020

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

por Seifert, Bryce A., McGlaughon, Jennifer L., Jackson, Sarah A., Ritter, Deborah I, Roberts, Maegan E., Schmidt, Ryan J., Thompson, Bryony A., Jimenez, Sharisse, Trapp, Mackenzie, Lee, Kristy, Plon, Sharon E., Offit, Kenneth, Stadler, Zsofia K., Zhang, Liying, Greenblatt, Marc S., Ferber, Matthew J.
Publicado 2018

Quantitative assessment of tumor-infiltrating lymphocytes in mismatch repair proficient colon cancer

por Jimenez-Rodriguez, Rosa M., Patil, Sujata, Keshinro, Ajaratu, Shia, Jinru, Vakiani, Efsevia, Stadler, Zsofia, Segal, Neil H., Yaeger, Rona, Konishi, Tsuyoshi, Shimada, Yoshifumi, Widmar, Maria, Wei, Iris, Pappou, Emmanouil, Smith, J. Joshua, Nash, Garrett, Paty, Philip, Garcia-Aguilar, Julio, Weiser, Martin R.
Publicado 2020

Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies

por Murciano-Goroff, Yonina R., Schram, Alison M., Rosen, Ezra Y., Won, Helen, Gong, Yixiao, Noronha, Anne Marie, Janjigian, Yelena Y., Stadler, Zsofia K., Chang, Jason C., Yang, Soo-Ryum, Mandelker, Diana, Offit, Kenneth, Berger, Michael F., Donoghue, Mark T. A., Bandlamudi, Chaitanya, Drilon, Alexander
Publicado 2022

Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations

por Mandelker, Diana, Marra, Antonio, Mehta, Nikita, Selenica, Pier, Yelskaya, Zarina, Yang, Ciyu, Somar, Joshua, Mehine, Miika, Misyura, Maksym, Basturk, Olca, Latham, Alicia, Carlo, Maria, Walsh, Michael, Stadler, Zsofia K., Offit, Kenneth, Bandlamudi, Chaitanya, Hameed, Meera, Chi, Ping, Reis-Filho, Jorge S., Ceyhan-Birsoy, Ozge
Publicado 2023

Perceptions of patients with early stage breast cancer toward research biopsies

por Seah, Davinia S., Leone, Jose Pablo, Openshaw, Thomas H., Scott, Sarah M., Tayob, Nabihah, Hu, Jiani, Lederman, Ruth I., Frank, Elizabeth S., Sohl, Jessica J., Stadler, Zsofia K., Erick, Timothy K., Silverman, Stuart G., Peppercorn, Jeffrey M., Winer, Eric P., Come, Steven E., Lin, Nancy U.
Publicado 2020

Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of “Second Hit” in Germline BRCA1-Associated Pancreatic Ductal Adenocarcinoma

por Zheng-Lin, Binbin, Rainone, Michael, Varghese, Anna M., Yu, Kenneth H., Park, Wungki, Berger, Michael, Mehine, Miika, Chou, Joanne, Capanu, Marinela, Mandelker, Diana, Stadler, Zsofia K., Birsoy, Ozge, Jairam, Sowmya, Yang, Ciyu, Li, Yirong, Wong, Donna, Benhamida, Jamal K, Ladanyi, Marc, Zhang, Liying, O’Reilly, Eileen M.
Publicado 2022

ATM Germline-Mutated Gastroesophageal Junction Adenocarcinomas: Clinical Descriptors, Molecular Characteristics, and Potential Therapeutic Implications

por El Jabbour, Tony, Misyura, Maksym, Cowzer, Darren, Zimmermann, Michal, Rimkunas, Victoria, Marra, Antonio, Derakhshan, Fatemeh, Selenica, Pier, Parilla, Megan, Setton, Jeremy S, Ceyhan-Birsoy, Ozge, Kemel, Yelena, Catchings, Amanda, Ranganathan, Megha, Ku, Geoffrey Y, Janjigian, Yelena Y, Zinda, Michael, Koehler, Maria, Stadler, Zsofia, Shia, Jinru, Reis-Filho, Jorge S, Mandelker, Diana
Publicado 2022

Genome doubling shapes the evolution and prognosis of advanced cancers

por Bielski, Craig M., Zehir, Ahmet, Penson, Alexander V., Donoghue, Mark T.A., Chatila, Walid, Armenia, Joshua, Chang, Matthew T., Schram, Alison M., Jonsson, Philip, Bandlamudi, Chaitanya, Razavi, Pedram, Iyer, Gopa, Robson, Mark E., Stadler, Zsofia K., Schultz, Nikolaus, Baselga, Jose, Solit, David B., Hyman, David M., Berger, Michael F., Taylor, Barry S.
Publicado 2018