Mandelker, Diana L.: search on Z-Library

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1

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing

Mandelker, Diana, Zhang, Liying, Kemel, Yelena, Stadler, Zsofia K., Joseph, Vijai, Zehir, Ahmet, Pradhan, Nisha, Arnold, Angela, Walsh, Michael F., Li, Yirong, Balakrishnan, Anoop R., Syed, Aijazuddin

Journal:

JAMA The Journal of the American Medical Association

Year:

2017

Language:

english

File:

PDF, 312 KB

english, 2017

2

Analysis of mutational signatures in primary and metastatic endometrial cancer reveals distinct patterns of DNA repair defects and shifts during tumor progression

Ashley, Charles W., Da Cruz Paula, Arnaud, Kumar, Rahul, Mandelker, Diana, Pei, Xin, Riaz, Nadeem, Reis-Filho, Jorge S., Weigelt, Britta

Journal:

Gynecologic Oncology

Year:

2018

Language:

english

File:

PDF, 2.59 MB

english, 2018

3

A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers

Yang, Ciyu, Ceyhan-Birsoy, Ozge, Mandelker, Diana, Jairam, Sowmya, Catchings, Amanda, O’Reilly, Eileen M., Walsh, Michael F., Zhang, Liying

Journal:

Breast Cancer Research and Treatment

Year:

2018

Language:

english

File:

PDF, 1.41 MB

english, 2018

4

Structural comparisons of class I phosphoinositide 3-kinases

Amzel, L. Mario, Huang, Chuan-Hsiang, Mandelker, Diana, Lengauer, Christoph, Gabelli, Sandra B., Vogelstein, Bert

Journal:

Nature Reviews Cancer

Year:

2008

Language:

english

File:

PDF, 411 KB

english, 2008

5

Evaluating Mismatch Repair Deficiency in Pancreatic Adenocarcinoma: Challenges and Recommendations

Hu, Zishuo I, Shia, Jinru, Stadler, Zsofia K., Varghese, Anna M., Capanu, Marinela, Salo-Mullen, Erin, Lowery, Maeve A, Diaz, Luis A, Mandelker, Diana, Yu, Kenneth H, Zervoudakis, Alice, Kelsen, David

Journal:

Clinical Cancer Research

Year:

2018

Language:

english

File:

PDF, 3.64 MB

english, 2018

6

Toward automation of germline variant curation in clinical cancer genetics

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

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 631 KB

english, 2019

7

PARP inhibitors for Cancer: Essential Biologic, Diagnostic, and Therapeutic Concepts for Todayâs Practitioner

Sholl, Lynette, Mandelker, Diana, Stockley, Tracy

Journal:

The Journal of Molecular Diagnostics

Year:

2020

File:

PDF, 270 KB

2020

8

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

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

Journal:

JCO Precision Oncology

Year:

2019

Language:

english

File:

PDF, 666 KB

english, 2019

9

Understanding Inherited Risk in Unselected Newly Diagnosed Patients With Endometrial Cancer

Cadoo, Karen A., Mandelker, Diana L., Mukherjee, Semanti, Stewart, Carolyn, DeLair, Deborah, Ravichandran, Vignesh, Srinivasan, Preethi, Hurley, Daire, Kemel, Yelena, Arnold, Angela G., Sheehan, Marga

Journal:

Obstetric and Gynecologic Survey

Year:

2019

File:

PDF, 76 KB

2019

10

Tumor Syndromes Predisposing to Osteosarcoma

Hameed, Meera, Mandelker, Diana

Journal:

Advances in Anatomic Pathology

Year:

2018

Language:

english

File:

PDF, 723 KB

english, 2018

11

Fumarate hydratase c.914TÂ >Â C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome

Breen, Kelsey E., Carlo, Maria I., Kemel, Yelena, Maio, Anna, Chen, YingâBei, Zhang, Liying, CeyhanâBirsoy, Ozge, Mandelker, Diana

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 911 KB

2020

12

Germline SDHA mutations in children and adults with cancer

Dubard Gault, Marianne, Mandelker, Diana, DeLair, Deborah, Stewart, Carolyn R., Kemel, Yelena, Sheehan, Margaret R., Siegel, Beth, Kennedy, Jennifer, Marcell, Vanessa, Arnold, Angela, Al-Ahmadie, Hikm

Journal:

Molecular Case Studies

Year:

2018

Language:

english

File:

PDF, 3.47 MB

english, 2018

13

Somatic mutations in PI3Kα: Structural basis for enzyme activation and drug design

Sandra B. Gabelli, Diana Mandelker, Oleg Schmidt-Kittler, Bert Vogelstein, L. Mario Amzel

Journal:

Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics

Year:

2010

Language:

english

File:

PDF, 1.48 MB

english, 2010

14

Understanding Inherited Risk in Unselected Newly Diagnosed Patients With Endometrial Cancer

Cadoo, Karen A., Mandelker, Diana L., Mukherjee, Semanti, Stewart, Carolyn, DeLair, Deborah, Ravichandran, Vignesh, Srinivasan, Preethi, Hurley, Daire, Kemel, Yelena, Arnold, Angela G., Sheehan, Marga

Journal:

JCO Precision Oncology

Year:

2019

File:

PDF, 690 KB

2019

15

The 2013 symposium on pathology data integration and clinical decision support and the current state of field

Dighe, AnandS, Gilbertson, JohnR, Higgins, JohnM, Jackson, BrianR, Kim, JiYeon, Klepeis, VeronicaE, Le, LongP, Louis, DavidN, Mandelker, Diana, Mermel, CraigH, Michaelson, JamesS, Nagarajan, Rakesh, P

Journal:

Journal of Pathology Informatics

Year:

2014

Language:

english

File:

PDF, 338 KB

english, 2014

16

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

Mandelker, Diana, Schmidt, Ryan J., Ankala, Arunkanth, McDonald Gibson, Kristin, Bowser, Mark, Sharma, Himanshu, Duffy, Elizabeth, Hegde, Madhuri, Santani, Avni, Lebo, Matthew, Funke, Birgit

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 668 KB

english, 2016

17

Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms

Lowery, Maeve A, Wong, Winston, Jordan, Emmet J, Lee, Jonathan W, Kemel, Yelena, Vijai, Joseph, Mandelker, Diana, Zehir, Ahmet, Capanu, Marinela, Salo-Mullen, Erin, Arnold, Angela G, Yu, Kenneth H, Va

Journal:

JNCI Journal of the National Cancer Institute

Year:

2018

Language:

english

File:

PDF, 715 KB

english, 2018

18

Prevalence of Clonal Hematopoiesis Mutations in Tumor-Only Clinical Genomic Profiling of Solid Tumors

Ptashkin, Ryan N., Mandelker, Diana L., Coombs, Catherine C., Bolton, Kelly, Yelskaya, Zarina, Hyman, David M., Solit, David B., Baselga, José, Arcila, Maria E., Ladanyi, Marc, Zhang, Liying, Levine,

Journal:

Year:

2018

Language:

english

File:

PDF, 287 KB

english, 2018

19

Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings

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,

Journal:

Year:

2020

File:

PDF, 223 KB

2020

20

BRCA Mutations, Homologous DNA Repair Deficiency, Tumor Mutational Burden, and Response to Immune Checkpoint Inhibition in Recurrent Ovarian Cancer

Liu, Ying L., Selenica, Pier, Zhou, Qin, Iasonos, Alexia, Callahan, Margaret, Feit, Noah Z., Boland, Julia, Vazquez-Garcia, Ignacio, Mandelker, Diana, Zehir, Ahmet, Burger, Robert A., Powell, Daniel J

Journal:

JCO Precision Oncology

Year:

2020

File:

PDF, 1.00 MB

2020

21

Somatic HNF1A mutations in the malignant transformation of hepatocellular adenomas: a retrospective analysis of data from MSK-IMPACT and TCGA.

Hechtman, Jaclyn F, Abou Alfa, Ghassan K., Stadler, Zsofia K., Mandelker, Diana L, Roehrl, Michael H.A., Zehir, Ahmet, Vakiani, Efsevia, Middha, Sumit, Klimstra, David S, Shia, Jinru

Journal:

Human Pathology

Year:

2018

Language:

english

File:

PDF, 9.71 MB

english, 2018

22

The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers

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, Nad

Journal:

JNCI Cancer Spectrum

Year:

2019

File:

PDF, 1.14 MB

2019

23

NIH Public Access

Amzel, L Mario, Huang, Chuan-hsiang, Mandelker, Diana, Lengauer, Christoph, Gabelli, Sandra B, Vogelstein, Bert

Year:

2010

Language:

english

File:

PDF, 1.85 MB

english, 2010

24

The emerging significance of secondary germline testing in cancer genomics

Mandelker, Diana, Zhang, Liying

Journal:

The Journal of Pathology

Year:

2018

Language:

english

File:

PDF, 1.23 MB

english, 2018

25

Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma

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, Yan

Journal:

Year:

2019

Language:

english

File:

PDF, 190 KB

english, 2019

26

Comprehensive Diagnostic Testing for Stereocilin

Mandelker, Diana, Amr, Sami S., Pugh, Trevor, Gowrisankar, Sivakumar, Shakhbatyan, Rimma, Duffy, Elizabeth, Bowser, Mark, Harrison, Bryan, Lafferty, Katherine, Mahanta, Lisa, Rehm, Heidi L., Funke, Bi

Journal:

The Journal of Molecular Diagnostics

Year:

2014

Language:

english

File:

PDF, 1024 KB

english, 2014

27

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

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

Journal:

Leukemia and Lymphoma

Year:

2014

Language:

english

File:

PDF, 663 KB

english, 2014

28

Pathology informatics fellowship training: Focus on molecular pathology

Gilbertson, JohnR, Klepeis, VeronicaE, Kuo, FrankC, Lane, WilliamJ, Lebo, MatthewS, Lee, RoyE, Mahowald, Michael, Mandelker, Diana, McClintock, DavidS, Platt, MiaY, Quinn, Andrew, Rao, LuigiK. F., Rie

Journal:

Journal of Pathology Informatics

Year:

2014

Language:

english

File:

PDF, 1.07 MB

english, 2014

29

Toward automation of germline variant curation in clinical cancer genetics

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

Journal:

Genetics in Medicine

Year:

2019

File:

PDF, 631 KB

2019

30

Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer

Latham, Alicia, Srinivasan, Preethi, Kemel, Yelena, Shia, Jinru, Bandlamudi, Chaitanya, Mandelker, Diana, Middha, Sumit, Hechtman, Jaclyn, Zehir, Ahmet, Dubard-Gault, Marianne, Tran, Christina, Stewar

Journal:

Journal of Clinical Oncology

Year:

2019

Language:

english

File:

PDF, 1.44 MB

english, 2019

31

Precision Medicine in Non-Small Cell Lung Cancer: Current Applications and Future Directions

Yang, Soo-Ryum, Schultheis, Anne M., Yu, Helena, Mandelker, Diana, Ladanyi, Marc, BÃ¼ttner, Reinhard

Journal:

Seminars in Cancer Biology

Year:

2020

File:

PDF, 4.19 MB

2020

32

A Clinical Approach to Detecting Germline Pathogenic Variants From Tumor-Only Sequencing

Ceyhan-Birsoy, PhD, Ozge, Misyura, Maksym, Mandelker, Diana

Journal:

JNCI Cancer Spectrum

Year:

2020

File:

PDF, 651 KB

2020

33

The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers

Weigelt, Britta, Bi, Rui, Kumar, Rahul, Blecua, Pedro, Mandelker, Diana L, Geyer, Felipe C, Pareja, Fresia, James, Paul A, Couch, Fergus J, Eccles, Diana M, Blows, Fiona, Pharoah, Paul, Li, Anqi, Sele

Journal:

JNCI Journal of the National Cancer Institute

Year:

2018

Language:

english

File:

PDF, 1.23 MB

english, 2018

34

Novel liver findings in Ornithine Transcarbamylase Deficiency due to Xp11.4-p21.1 microdeletion

Gallant, Natalie M., Gui, Dorina, Lassman, Charles R., Yong, William H., Teitell, Michael, Mandelker, Diana, Lorey, Fred, Martinez-Agosto, Julian A., Quintero-Rivera, Fabiola

Journal:

Year:

2015

Language:

english

File:

PDF, 1.09 MB

english, 2015

35

Refractory myeloid sarcoma with a FIP1L1-PDGFRA rearrangement detected by clinical high throughput somatic sequencing

Mandelker, Diana, Dal Cin, Paola, Jacene, Heather A., Armand, Philippe, Stone, Richard M., Lindeman, Neal I.

Journal:

Experimental Hematology and Oncology

Year:

2015

Language:

english

File:

PDF, 1.27 MB

english, 2015

36

Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants

Austin-Tse, Christina A., Mandelker, Diana L., Oza, Andrea M., Mason-Suares, Heather, Rehm, Heidi L., Amr, Sami S.

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1022 KB

english, 2018

37

Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma

Carlo, Maria I., Mukherjee, Semanti, Mandelker, Diana, Vijai, Joseph, Kemel, Yelena, Zhang, Liying, Knezevic, Andrea, Patil, Sujata, Ceyhan-Birsoy, Ozge, Huang, Kuo-Cheng, Redzematovic, Almedina, Cosk

Journal:

Year:

2018

Language:

english

File:

PDF, 448 KB

english, 2018

38

Cancer Susceptibility Mutations in Patients With Urothelial Malignancies

Carlo, Maria I., Ravichandran, Vignesh, Srinavasan, Preethi, Bandlamudi, Chaitanya, Kemel, Yelena, Ceyhan-Birsoy, Ozge, Mukherjee, Semanti, Mandelker, Diana, Chaim, Joshua, Knezevic, Andrea, Rana, Sat

Journal:

Journal of Clinical Oncology

Year:

2019

File:

PDF, 949 KB

2019

39

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

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

Journal:

Year:

2008

Language:

english

File:

PDF, 694 KB

english, 2008

40

Correction: Toward automation of germline variant curation in clinical cancer genetics

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

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 170 KB

english, 2019

41

Characterization of TP53-wildtype tubo-ovarian high-grade serous carcinomas: rare exceptions to the binary classification of ovarian serous carcinoma

Chui, M. Herman, Momeni Boroujeni, Amir, Mandelker, Diana, Ladanyi, Marc, Soslow, Robert A.

Journal:

Modern Pathology

Year:

2020

File:

PDF, 4.28 MB

2020

42

PATH-33. GERMLINE PREDICTORS OF HEMATOLOGIC TOXICITY IN PATIENTS WITH GLIOMA TREATED WITH CHEMOTHERAPY

Sener, Ugur, Bhatia, Ankush, DeAngelis, Lisa, Mandelker, Diana, Yerram, Prakirthi

Journal:

Year:

2019

File:

PDF, 84 KB

2019

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