Works by Mandelker, Diana

Results: 32

Genomic landscape of breast cancer in elderly patients.

Published in:

NPJ Breast Cancer, 2025, v. 11, n. 1, p. 1, doi. 10.1038/s41523-025-00781-4

By:

Selenica, Pier;
Dopeso, Higinio;
Repetto, Matteo;
Basili, Thais;
Gazzo, Andrea M.;
Schwartz, Christopher J.;
Derakhshan, Fatemeh;
Marra, Antonio;
Ferrando, Lorenzo;
Beets-Tan, Regina G. H.;
Wen, Y. H.;
Ross, Dara S.;
Brogi, Edi;
Zhang, Hong;
Norton, Larry;
Chandarlapaty, Sarat;
Razavi, Pedram;
Mandelker, Diana;
Reis-Fiho, Jorge S.;
Weigelt, Britta

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. 18, 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

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

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

Antigen expression patterns of MYC-rearranged versus non- MYC-rearranged B-cell lymphomas by flow cytometry.

Published in:

Leukemia & Lymphoma, 2014, v. 55, n. 11, p. 2592, doi. 10.3109/10428194.2013.879714

By:

Mandelker, Diana L.;
Dorfman, David M.;
Li, Betty;
Pozdnyakova, Olga

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

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

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

Insights into the oncogenic effects of PIK3CA mutations from the structure of p110α/p85α.

Published in:

Cell Cycle, 2008, v. 7, n. 9, p. 1151, doi. 10.4161/cc.7.9.5817

By:

Chuan-Hsiang Huang;
Mandelker, Diana;
Gabelli, Sandra B.;
Amzel, L. Mario

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

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

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

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

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

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

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

Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.

Published in:

NPJ Precision Oncology, 2025, v. 9, n. 1, p. 1, doi. 10.1038/s41698-025-00925-6

By:

Saoud, Carla;
Dermawan, Josephine K.;
Arora, Kanika;
Tap, William D.;
Reed, Damon;
Slotkin, Emily K.;
Wexler, Leonard H.;
Murciano-Goroff, Yonina R.;
Latham, Alicia;
Mandelker, Diana L.;
Antonescu, Cristina R.

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

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

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

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

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

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

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

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