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Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34109-8
By:
- 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
Publication type:
Article
The emerging significance of secondary germline testing in cancer genomics.
Published in:
Journal of Pathology, 2018, v. 244, n. 5, p. 610, doi. 10.1002/path.5031
By:
- Mandelker, Diana;
- Zhang, Liying
Publication type:
Article
A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers.
Published in:
Breast Cancer Research & Treatment, 2019, v. 173, n. 1, p. 79, doi. 10.1007/s10549-018-4980-y
By:
- Yang, Ciyu;
- Ceyhan-Birsoy, Ozge;
- Mandelker, Diana;
- Jairam, Sowmya;
- Catchings, Amanda;
- O'Reilly, Eileen M.;
- Walsh, Michael F.;
- Zhang, Liying
Publication type:
Article
Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1293
By:
- Breen, Kelsey E.;
- Carlo, Maria I.;
- Kemel, Yelena;
- Maio, Anna;
- Chen, Ying‐Bei;
- Zhang, Liying;
- Ceyhan‐Birsoy, Ozge;
- Mandelker, Diana
Publication type:
Article
Indications for Total Gastrectomy in CDH1 Mutation Carriers and Outcomes of Risk-Reducing Minimally Invasive and Open Gastrectomies.
Published in:
2020
By:
- Vos, Elvira L.;
- Salo-Mullen, Erin E.;
- Tang, Laura H.;
- Schattner, Mark;
- Yoon, Sam S.;
- Gerdes, Hans;
- Markowitz, Arnold J.;
- Mandelker, Diana;
- Janjigian, Yelena;
- Offitt, Kenneth;
- Coit, Daniel G.;
- Stadler, Zsofia K.;
- Strong, Vivian E.
Publication type:
journal article
Refractory myeloid sarcoma with a FIP1L1-PDGFRA rearrangement detected by clinical high throughput somatic sequencing.
Published in:
Experimental Hematology & Oncology, 2015, v. 4, n. 1, p. 1, doi. 10.1186/s40164-015-0026-x
By:
- Mandelker, Diana;
- Dal Cin, Paola;
- Jacene, Heather A.;
- Armand, Philippe;
- Stone, Richard M.;
- Lindeman, Neal I.
Publication type:
Article
A Clinical Approach to Detecting Germline Pathogenic Variants From Tumor-Only Sequencing.
Published in:
JNCI Cancer Spectrum, 2020, v. 4, n. 3, p. 1, doi. 10.1093/jncics/pkaa019
By:
- Ceyhan-Birsoy, Ozge;
- Misyura, Maksym;
- Mandelker, Diana
Publication type:
Article
The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers.
Published in:
JNCI Cancer Spectrum, 2019, v. 3, n. 2, p. N.PAG, doi. 10.1093/jncics/pkz027
By:
- Mandelker, Diana;
- Kumar, Rahul;
- Pei, Xin;
- Selenica, Pier;
- Setton, Jeremy;
- Arunachalam, Sasi;
- Ceyhan-Birsoy, Ozge;
- Brown, David N;
- Norton, Larry;
- Robson, Mark E;
- Wen, Hannah Y;
- Powell, Simon;
- Riaz, Nadeem;
- Weigelt, Britta;
- Reis-Filho, Jorge S
Publication type:
Article
Molecular Changes in Retinoblastoma beyond RB1 : Findings from Next-Generation Sequencing.
Published in:
Cancers, 2021, v. 13, n. 1, p. 149, doi. 10.3390/cancers13010149
By:
- Francis, Jasmine H.;
- Richards, Allison L.;
- Mandelker, Diana L.;
- Berger, Michael F.;
- Walsh, Michael F.;
- Dunkel, Ira J.;
- Donoghue, Mark T. A.;
- Abramson, David H.
Publication type:
Article
Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of "Second Hit" in Germline BRCA1-Associated Pancreatic Ductal Adenocarcinoma.
Published in:
Molecular Diagnosis & Therapy, 2022, v. 26, n. 6, p. 645, doi. 10.1007/s40291-022-00614-1
By:
- 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.
Publication type:
Article
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.
Published in:
2017
By:
- Mandelker, Diana;
- Liying Zhang;
- Kemel, Yelena;
- Stadler, Zsofia K.;
- Joseph, Vijai;
- Zehir, Ahmet;
- Pradhan, Nisha;
- Arnold, Angela;
- Walsh, Michael F.;
- Yirong Li;
- Balakrishnan, Anoop R.;
- Syed, Aijazuddin;
- Prasad, Meera;
- Nafa, Khedoudja;
- Carlo, Maria I.;
- Cadoo, Karen A.;
- Sheehan, Meg;
- Fleischut, Megan H.;
- Salo-Mullen, Erin;
- Trottier, Magan
Publication type:
journal article
MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 569, doi. 10.1007/s10689-024-00423-x
By:
- Shia, Jinru;
- Sanchez-Vega, Francisco;
- Cho, Stanley;
- Chen, Jie-Fu;
- Chen, Chin-Tung;
- Bhanot, Umesh;
- Urganci, Nil;
- Firat, Canan;
- Ntiamoah, Peter;
- Isidro, Raymond A.;
- Srivastava, Amitabh;
- Weiser, Martin R.;
- Mandelker, Diana;
- Vakiani, Efsevia;
- Boland, C. Richard;
- Garcia-Aguilar, Julio;
- Stadler, Zsofia K.
Publication type:
Article
Dramatic, durable response to therapy in gBRCA2-mutated pancreas neuroendocrine carcinoma: opportunity and challenge.
Published in:
NPJ Precision Oncology, 2023, v. 7, n. 1, p. 1, doi. 10.1038/s41698-023-00376-x
By:
- Keane, Fergus;
- Bajwa, Raazi;
- Selenica, Pier;
- Park, Wungki;
- Roehrl, Michael H.;
- Reis-Filho, Jorge S.;
- Mandelker, Diana;
- O'Reilly, Eileen M.
Publication type:
Article
Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations.
Published in:
NPJ Precision Oncology, 2023, v. 7, n. 1, p. 1, doi. 10.1038/s41698-022-00342-z
By:
- 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
Publication type:
Article
Somatic intronic TP53 c.375+5G mutations are a recurrent but under‐recognized mode of TP53 inactivation.
Published in:
Journal of Pathology: Clinical Research, 2022, v. 8, n. 1, p. 14, doi. 10.1002/cjp2.242
By:
- Chui, M Herman;
- Yang, Ciyu;
- Mehta, Nikita;
- Rai, Vikas;
- Zehir, Ahmet;
- Momeni Boroujeni, Amir;
- Ladanyi, Marc;
- Mandelker, Diana
Publication type:
Article
Mutant-RB1 circulating tumor DNA in the blood of unilateral retinoblastoma patients: What happens during enucleation surgery: A pilot study.
Published in:
PLoS ONE, 2023, v. 17, n. 2, p. 1, doi. 10.1371/journal.pone.0271505
By:
- Abramson, David H.;
- Mandelker, Diana L.;
- Brannon, A. Rose;
- Dunkel, Ira J.;
- Benayed, Ryma;
- Berger, Michael F.;
- Arcila, Maria E.;
- Ladanyi, Marc;
- Friedman, Danielle Novetsky;
- Jayakumaran, Gowtham;
- Diosdado, Monica S.;
- Robbins, Melissa A.;
- Haggag-Lindgren, Dianna;
- Shukla, Neerav;
- Walsh, Michael F.;
- Kothari, Prachi;
- Tsui, Dana W. Y.;
- Francis, Jasmine H.
Publication type:
Article
Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings.
Published in:
2020
By:
- Maynard, Hannah;
- Stadler, Zsofia K;
- Berger, Michael F;
- Solit, David B;
- Ly, Michele;
- Lowery, Maeve A;
- Mandelker, Diana;
- Zhang, Liying;
- Jordan, Emmett;
- El Dika, Imane;
- Kemel, Yelena;
- Ladanyi, Marc;
- Robson, Mark E;
- O'Reilly, Eileen M;
- Abou-Alfa, Ghassan K
Publication type:
journal article
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 103, doi. 10.1002/humu.23900
By:
- Zhang, Liying;
- Walsh, Michael F.;
- Jairam, Sowmya;
- Mandelker, Diana;
- Zhong, Yi;
- Kemel, Yelena;
- Chen, Ying‐Bei;
- Musheyev, David;
- Zehir, Ahmet;
- Jayakumaran, Gowtham;
- Brzostowski, Edyta;
- Birsoy, Ozge;
- Yang, Ciyu;
- Li, Yirong;
- Somar, Joshua;
- DeLair, Deborah;
- Pradhan, Nisha;
- Berger, Michael F.;
- Cadoo, Karen;
- Carlo, Maria I.
Publication type:
Article
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1542, doi. 10.1002/humu.23640
By:
- Walsh, Michael F.;
- Ritter, Deborah I.;
- Kesserwan, Chimene;
- Sonkin, Dmitriy;
- Chakravarty, Debyani;
- Chao, Elizabeth;
- Ghosh, Rajarshi;
- Kemel, Yelena;
- Wu, Gang;
- Lee, Kristy;
- Kulkarni, Shashikant;
- Hedges, Dale;
- Mandelker, Diana;
- Ceyhan‐Birsoy, Ozge;
- Luo, Minjie;
- Drazer, Michael;
- Zhang, Liying;
- Offit, Kenneth;
- Plon, Sharon E.
Publication type:
Article
Genomic ancestry in kidney cancer: Correlations with clinical and molecular features.
Published in:
Cancer (0008543X), 2024, v. 130, n. 5, p. 692, doi. 10.1002/cncr.35074
By:
- Kotecha, Ritesh R.;
- Knezevic, Andrea;
- Arora, Kanika;
- Bandlamudi, Chaitanya;
- Kuo, Fengshen;
- Carlo, Maria I.;
- Fitzgerald, Kelly N.;
- Feldman, Darren R.;
- Shah, Neil J.;
- Reznik, Ed;
- Hakimi, A. Ari;
- Carrot‐Zhang, Jian;
- Mandelker, Diana;
- Berger, Michael;
- Lee, Chung‐Han;
- Motzer, Robert J.;
- Voss, Martin H.
Publication type:
Article
Disparities in cancer genetics care by race/ethnicity among pan‐cancer patients with pathogenic germline variants.
Published in:
Cancer (0008543X), 2022, v. 128, n. 21, p. 3870, doi. 10.1002/cncr.34434
By:
- Liu, Ying L.;
- Maio, Anna;
- Kemel, Yelena;
- Salo‐Mullen, Erin E.;
- Sheehan, Margaret;
- Tejada, Prince Ray;
- Trottier, Magan;
- Arnold, Angela G.;
- Fleischut, Megan Harlan;
- Latham, Alicia;
- Carlo, Maria I.;
- Murciano‐Goroff, Yonina R.;
- Walsh, Michael F.;
- Mandelker, Diana;
- Mehta, Nikita;
- Bandlamudi, Chaitanya;
- Arora, Kanika;
- Zehir, Ahmet;
- Berger, Michael F.;
- Solit, David B.
Publication type:
Article
Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings.
Published in:
Cancer (0008543X), 2020, v. 126, n. 9, p. 1995, doi. 10.1002/cncr.32740
By:
- Maynard, Hannah;
- Stadler, Zsofia K.;
- Berger, Michael F.;
- Solit, David B.;
- Ly, Michele;
- Lowery, Maeve A.;
- Mandelker, Diana;
- Zhang, Liying;
- Jordan, Emmett;
- El Dika, Imane;
- Kemel, Yelena;
- Ladanyi, Marc;
- Robson, Mark E.;
- O'Reilly, Eileen M.;
- Abou‐Alfa, Ghassan K.
Publication type:
Article
Structural comparisons of class I phosphoinositide 3-kinases.
Published in:
2008
By:
- Amzel, L. Mario;
- Chuan-Hsiang Huang;
- Mandelker, Diana;
- Lengauer, Christoph;
- Gabelli, Sandra B.;
- Vogelstein, Bert;
- Huang, Chuan-Hsiang
Publication type:
research
Early-Onset Pancreas Cancer: Clinical Descriptors, Genomics, and Outcomes.
Published in:
2021
By:
- Varghese, Anna M;
- Singh, Isha;
- Singh, Rituraj;
- Kunte, Siddharth;
- Chou, Joanne F;
- Capanu, Marinela;
- Wong, Winston;
- Lowery, Maeve A;
- Stadler, Zsofia K;
- Salo-Mullen, Erin;
- Saadat, Lily V;
- Wei, Alice C;
- Reyngold, Marsha;
- Basturk, Olca;
- Benayed, Ryma;
- Mandelker, Diana;
- Iacobuzio-Donahue, Christine A;
- Kelsen, David P;
- Park, Wungki;
- Yu, Kenneth H
Publication type:
journal article
The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers.
Published in:
2018
By:
- Weigelt, Britta;
- Bi, Rui;
- Kumar, Rahul;
- Blecua, Pedro;
- Mandelker, Diana L;
- Geyer, Felipe C;
- Pareja, Fresia;
- James, Paul A;
- Investigators, kConFab;
- Couch, Fergus J;
- kConFab Investigators;
- Eccles, Diana M;
- Blows, Fiona;
- Pharoah, Paul;
- Li, Anqi;
- Selenica, Pier;
- Lim, Raymond S;
- Jayakumaran, Gowtham;
- Waddell, Nic;
- Shen, Ronglai
Publication type:
journal article
The ongoing evolution of the core curriculum of a clinical fellowship in pathology informatics.
Published in:
Journal of Pathology Informatics, 2014, v. 5, n. 1, p. 230, doi. 10.4103/2153-3539.137717
By:
- Quinn, Andrew M.;
- Klepeis, Veronica E.;
- Mandelker, Diana L.;
- Platt, Mia Y.;
- Rao, Luigi K. F.;
- Riedlinger, Gregory;
- Baron, Jason M.;
- Brodsky, Victor;
- Ji Yeon Kim;
- Lane, William;
- Lee, Roy E.;
- Levy, Bruce P.;
- McClintock, David S.;
- Beckwith, Bruce A.;
- Kuo, Frank C.;
- Gilbertson, John R.
Publication type:
Article
Pathology informatics fellowship training: Focus on molecular pathology.
Published in:
Journal of Pathology Informatics, 2014, v. 5, n. 1, p. 75, doi. 10.4103/2153-3539.129444
By:
- Mandelker, Diana;
- Lee, Roy E.;
- Platt, Mia Y.;
- Riedlinger, Gregory;
- Quinn, Andrew;
- Rao, Luigi. K. F.;
- Klepeis, Veronica E.;
- Mahowald, Michael;
- Lane, William J.;
- Beckwith, Bruce A.;
- Baron, Jason M.;
- McClintock, David S.;
- Kuo, Frank C.;
- Lebo, Matthew S.;
- Gilbertson, John R.
Publication type:
Article
The 2013 symposium on pathology data integration and clinical decision support and the current state of field.
Published in:
Journal of Pathology Informatics, 2014, v. 5, n. 1, p. 10, doi. 10.4103/2153-3539.126145
By:
- Baron, Jason M.;
- Dighe, Anand S.;
- Arnaout, Ramy;
- Balis, Ulysses J.;
- Stephen Black-Schaffer, W.;
- Carter, Alexis B.;
- Henricks, Walter H.;
- Higgins, John M.;
- Jackson, Brian R.;
- JiYeon Kim;
- Klepeis, Veronica E.;
- Le, Long P.;
- Louis, David N.;
- Mandelker, Diana;
- Mermel, Craig H.;
- Michaelson, James S.;
- Nagarajan, Rakesh;
- Platt, Mihae E.;
- Quinn, Andrew M.;
- Rao, Luigi
Publication type:
Article

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