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Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome by Kelsey E. Breen, Maria I. Carlo, Yelena Kemel, Anna Maio, Ying‐Bei Chen, Liying Zhang, Ozge Ceyhan‐Birsoy, Diana Mandelker
Published 2020-08-01
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Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations by Diana Mandelker, Antonio Marra, Nikita Mehta, Pier Selenica, Zarina Yelskaya, Ciyu Yang, Joshua Somar, Miika Mehine, Maksym Misyura, Olca Basturk, Alicia Latham, Maria Carlo, Michael Walsh, Zsofia K. Stadler, Kenneth Offit, Chaitanya Bandlamudi, Meera Hameed, Ping Chi, Jorge S. Reis-Filho, Ozge Ceyhan-Birsoy
Published 2023-01-01
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Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination by Jeremy Setton, Pier Selenica, Semanti Mukherjee, Rachna Shah, Isabella Pecorari, Biko McMillan, Isaac X. Pei, Yelena Kemel, Ozge Ceyhan-Birsoy, Margaret Sheehan, Kaitlyn Tkachuk, David N. Brown, Liying Zhang, Karen Cadoo, Simon Powell, Britta Weigelt, Mark Robson, Nadeem Riaz, Kenneth Offit, Jorge S. Reis-Filho, Diana Mandelker
Published 2021-10-01
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