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Select item 35854921.

International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer

Marcia Irene Canto, Femme Harinck, Ralph H Hruban, George Johan Offerhaus, Jan-Werner Poley, Ihab Kamel, Yung Nio, Richard S Schulick, Claudio Bassi, Irma Kluijt, Michael J Levy, Amitabh Chak, Paul Fockens, Michael Goggins, Marco Bruno, on behalf of the International Cancer of the Pancreas Screening (CAPS) Consortium

Gut. 2013 Mar; 62(3): 339–347. Published online 2012 Nov 7. doi: 10.1136/gutjnl-2012-303108

Correction in:: Gut. 2014 Jan; 63(1): 178.

PMCID:: PMC3585492

Abstract Article PDF–189K

Select item 46959862.

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

Sapna Syngal, Randall E. Brand, James M. Church, Francis M. Giardiello, Heather L. Hampel, Randall W. Burt

Am J Gastroenterol. Author manuscript; available in PMC 2015 Dec 30.

Published in final edited form as: Am J Gastroenterol. 2015 Feb; 110(2): 223–263. Published online 2015 Feb 3. doi: 10.1038/ajg.2014.435

PMCID:: PMC4695986

Abstract Article PDF–879K

Select item 76599523.

Vitamin D Binding Protein (VDBP) and Its Gene Polymorphisms—The Risk of Malignant Tumors and Other Diseases

Dominika Rozmus, Alicja Ciesielska, Janusz Płomiński, Roman Grzybowski, Ewa Fiedorowicz, Natalia Kordulewska, Huub Savelkoul, Elżbieta Kostyra, Anna Cieślińska

Int J Mol Sci. 2020 Nov; 21(21): 7822. Published online 2020 Oct 22. doi: 10.3390/ijms21217822

PMCID:: PMC7659952

Abstract Article PDF–1.0M

Select item 75474784.

Genetic variants in MIR17HG affect the susceptibility and prognosis of glioma in a Chinese Han population

Jigao Feng, Yibin Ouyang, Dedong Xu, Qinglong He, Dayuan Liu, Xudong Fan, Pengxiang Xu, Yehe Mo

BMC Cancer. 2020; 20: 976. Published online 2020 Oct 9. doi: 10.1186/s12885-020-07417-9

PMCID:: PMC7547478

Abstract Article PDF–840K

Select item 76595875.

Malignant Transformation Involving CXXC4 Mutations Identified in a Leukemic Progression Model of Severe Congenital Neutropenia

Patricia A. Olofsen, Szabolcs Fatrai, Paulina M.H. van Strien, Julia C. Obenauer, Hans W.J. de Looper, Remco M. Hoogenboezem, Claudia A.J. Erpelinck-Verschueren, Michael P.W.M. Vermeulen, Onno Roovers, Torsten Haferlach, Joop H. Jansen, Mehrnaz Ghazvini, Eric M.J. Bindels, Rebekka K. Schneider, Emma M. de Pater, Ivo P. Touw

Cell Rep Med. 2020 Aug 25; 1(5): 100074. Published online 2020 Aug 25. doi: 10.1016/j.xcrm.2020.100074

PMCID:: PMC7659587

Abstract Article PDF–4.3M

Select item 76456086.

Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms

Laura Palomo, Manja Meggendorfer, Stephan Hutter, Sven Twardziok, Vera Ademà, Irene Fuhrmann, Francisco Fuster-Tormo, Blanca Xicoy, Lurdes Zamora, Pamela Acha, Cassandra M. Kerr, Wolfgang Kern, Jaroslaw P. Maciejewski, Francesc Solé, Claudia Haferlach, Torsten Haferlach

Blood. 2020 Oct 15; 136(16): 1851–1862. Prepublished online 2020 Jun 23. doi: 10.1182/blood.2019004229

PMCID:: PMC7645608

Abstract Article

Select item 76436767.

Radiation therapy and secondary malignancy in Li‐Fraumeni syndrome: A hereditary cancer registry study

Peter G. Hendrickson, Yukun Luo, Wendy Kohlmann, Josh Schiffman, Luke Maese, Andrew J. Bishop, Shane Lloyd, Kristine E. Kokeny, Ying J. Hitchcock, Matthew M. Poppe, David K. Gaffney, Randa Tao

Cancer Med. 2020 Nov; 9(21): 7954–7963. Published online 2020 Sep 15. doi: 10.1002/cam4.3427

PMCID:: PMC7643676

Abstract Article PDF–329K

Select item 76067918.

Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals

Paul Lacaze, Robert Sebra, Moeen Riaz, Jane Tiller, Jerico Revote, James Phung, Emily J Parker, Suzanne G Orchard, Jessica E Lockery, Rory Wolfe, Maya Strahl, Ying C Wang, Rong Chen, Daniel Sisco, Todd Arnold, Bryony A Thompson, Daniel D Buchanan, Finlay A Macrae, Paul A James, Walter P Abhayaratna, Trevor J Lockett, Peter Gibbs, Andrew M Tonkin, Mark R Nelson, Christopher M Reid, Robyn L Woods, Anne M Murray, Ingrid Winship, John J McNeil, Eric Schadt

Genet Med. Author manuscript; available in PMC 2021 Jan 1.

Published in final edited form as: Genet Med. 2020 Nov; 22(11): 1883–1886. Published online 2020 Jul 1. doi: 10.1038/s41436-020-0881-7

PMCID:: PMC7606791

Abstract Article PDF–62K

Select item 76000589.

Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome

N. Jewel Samadder, Douglas Riegert-Johnson, Lisa Boardman, Deborah Rhodes, Myra Wick, Scott Okuno, Katie L. Kunze, Michael Golafshar, Pedro L. S. Uson, Jr, Luke Mountjoy, Natalie Ertz-Archambault, Neej Patel, Eduardo A. Rodriguez, Blanca Lizaola-Mayo, Michael Lehrer, Cameron S. Thorpe, Nathan Y. Yu, Edward D. Esplin, Robert L. Nussbaum, Richard R. Sharp, Cindy Azevedo, Margaret Klint, Megan Hager, Sarah Macklin-Mantia, Alan H. Bryce, Tanios S. Bekaii-Saab, Aleksandar Sekulic, A. Keith Stewart

JAMA Oncol. 2021 Feb; 7(2): 1–8. Published online 2020 Oct 30. doi: 10.1001/jamaoncol.2020.6252

Correction in:: JAMA Oncol. 2021 Feb; 7(2): 312.

PMCID:: PMC7600058

Abstract Article

Select item 759456010.

Prediction of IDH genotype in gliomas with dynamic susceptibility contrast perfusion MR imaging using an explainable recurrent neural network

Kyu Sung Choi, Seung Hong Choi, Bumseok Jeong

Neuro Oncol. 2019 Sep; 21(9): 1197–1209. Published online 2019 Jun 17. doi: 10.1093/neuonc/noz095

PMCID:: PMC7594560

Abstract Article PDF–10M

Select item 759440611.

Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies

Amy M. Trottier, Lawrence J. Druhan, Ira L. Kraft, Amanda Lance, Simone Feurstein, Maria Helgeson, Jeremy P. Segal, Soma Das, Belinda R. Avalos, Lucy A. Godley

Blood Adv. 2020 Oct 27; 4(20): 5269–5284. Published online 2020 Oct 27. doi: 10.1182/bloodadvances.2020002013

PMCID:: PMC7594406

Abstract Article PDF–1.8M

Select item 759373012.

ACE2 and TMPRSS2 Potential Involvement in Genetic Susceptibility to SARS-COV-2 in Cancer Patients

Sara Ravaioli, Michela Tebaldi, Eugenio Fonzi, Davide Angeli, Massimiliano Mazza, Fabio Nicolini, Alessandro Lucchesi, Francesca Fanini, Francesca Pirini, Maria Maddalena Tumedei, Claudio Cerchione, Pierluigi Viale, Vittorio Sambri, Giovanni Martinelli, Sara Bravaccini

Cell Transplant. 2020 Jan-Dec; 29: 0963689720968749. Published online 2020 Oct 27. doi: 10.1177/0963689720968749

PMCID:: PMC7593730

Abstract Article PDF–1.3M

Select item 758826113.

Genetic testing in families with hereditary colorectal cancer in British Columbia and Yukon: a retrospective cross-sectional analysis

Vivienne K. Beard, Angela C. Bedard, Jennifer Nuk, Petra W.C. Lee, Quan Hong, James E.J. Bedard, Sophie Sun, Kasmintan A. Schrader

CMAJ Open. 2020 Oct-Dec; 8(4): E637–E642. Published online 2020 Oct 13. doi: 10.9778/cmajo.20190167

PMCID:: PMC7588261

Abstract Article PDF–213K

Select item 757193414.

Germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis

Byung-Joo Min, Yong Koo Kang, Yang-Guk Chung, Myung-Eui Seo, Ki Bong Chang, Min Wook Joo

Clin Orthop Relat Res. 2020 Nov; 478(11): 2442–2450. Published online 2020 Mar 24. doi: 10.1097/CORR.0000000000001239

PMCID:: PMC7571934

Abstract Article PDF–2.5M

Select item 756649615.

Multiplex melanoma families are enriched for polygenic risk

Matthew H Law, Lauren G Aoude, David L Duffy, Georgina V Long, Peter A Johansson, Antonia L Pritchard, Kiarash Khosrotehrani, Graham J Mann, Grant W Montgomery, Mark M Iles, Anne E Cust, Jane M Palmer, Melanoma GWAS Consortium , Kerwin F Shannon, Andrew J Spillane, Jonathan R Stretch, John F Thompson, Robyn P M Saw, Richard A Scolyer, Nicholas G Martin, Nicholas K Hayward, Stuart MacGregor

Hum Mol Genet. 2020 Sep 1; 29(17): 2976–2985. Published online 2020 Jul 27. doi: 10.1093/hmg/ddaa156

PMCID:: PMC7566496

Abstract Article PDF–789K

Select item 756082916.

Using whole-exome sequencing and protein interaction networks to prioritize candidate genes for germline cutaneous melanoma susceptibility

Sally Yepes, Margaret A. Tucker, Hela Koka, Yanzi Xiao, Kristine Jones, Aurelie Vogt, Laurie Burdette, Wen Luo, Bin Zhu, Amy Hutchinson, Meredith Yeager, Belynda Hicks, Neal D. Freedman, Stephen J. Chanock, Alisa M. Goldstein, Xiaohong R. Yang

Sci Rep. 2020; 10: 17198. Published online 2020 Oct 14. doi: 10.1038/s41598-020-74293-5

PMCID:: PMC7560829

Abstract Article PDF–1.5M

Select item 755548017.

Cancer risks associated with the germline MITF(E318K) variant

Samantha M. Guhan, Mykyta Artomov, Shelley McCormick, Ching -Ni Njauw, Alexander J. Stratigos, Kristen Shannon, Leif W. Ellisen, Hensin Tsao

Sci Rep. 2020; 10: 17051. Published online 2020 Oct 13. doi: 10.1038/s41598-020-74237-z

PMCID:: PMC7555480

Abstract Article PDF–885K

Select item 781976018.

Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia

Rina Nishii, Rebekah Baskin-Doerfler, Wentao Yang, Ninad Oak, Xujie Zhao, Wenjian Yang, Keito Hoshitsuki, Mackenzie Bloom, Katherine Verbist, Melissa Burns, Zhenhua Li, Ting-Nien Lin, Maoxiang Qian, Takaya Moriyama, Julie M. Gastier-Foster, Karen R. Rabin, Elizabeth Raetz, Charles Mullighan, Ching-Hon Pui, Allen Eng-Juh Yeoh, Jinghui Zhang, Monika L. Metzger, Jeffery M. Klco, Stephen P. Hunger, Scott Newman, Gang Wu, Mignon L. Loh, Kim E. Nichols, Jun J. Yang

Blood. 2021 Jan 21; 137(3): 364–373. Prepublished online 2020 Jul 21. doi: 10.1182/blood.2020006164

PMCID:: PMC7819760

Abstract Article

Select item 766845719.

Germline mutational profile of Chinese patients under 70 years old with colorectal cancer

Teng‐Jia Jiang, Fang Wang, Ying‐Nan Wang, Jia‐Jia Hu, Pei‐Rong Ding, Jun‐Zhong Lin, Zhi‐Zhong Pan, Gong Chen, Jian‐Yong Shao, Rui‐hua Xu, Qi Zhao, Feng Wang

Cancer Commun (Lond) 2020 Nov; 40(11): 620–632. Published online 2020 Sep 10. doi: 10.1002/cac2.12093

PMCID:: PMC7668457

Abstract Article PDF–2.8M

Select item 769890320.

Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer

Fabíola Yukiko Miasaki, Cesar Seigi Fuziwara, Gisah Amaral de Carvalho, Edna Teruko Kimura

Genes (Basel) 2020 Nov; 11(11): 1364. Published online 2020 Nov 18. doi: 10.3390/genes11111364

PMCID:: PMC7698903

Abstract Article PDF–342K

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