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Select item 63275181.

Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study

Dandan Yi, Lei Xu, Jiaqi Luo, Xiaobin You, Tao Huang, Yi Zi, Xiaoting Li, Ru Wang, Zaixuan Zhong, Xiaoqiao Tang, Ang Li, Yujian Shi, Jianmei Rao, Yifen Zhang, Jianfeng Sang

Hum Genomics. 2019; 13: 4. Published online 2019 Jan 10. doi: 10.1186/s40246-018-0186-y

PMCID:: PMC6327518

Abstract Article PDF–1.2M

Select item 69330102.

Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach

Javier Oliver, Rosalía Quezada Urban, Claudia Alejandra Franco Cortés, Clara Estela Díaz Velásquez, Ana Lorena Montealegre Paez, Rafael Adrián Pacheco-Orozco, Carlos Castro Rojas, Reggie García-Robles, Juan Javier López Rivera, Sandra Gaitán Chaparro, Ana Milena Gómez, Fernando Suarez Obando, Gustavo Giraldo, Maria Isabel Maya, Paula Hurtado-Villa, Ana Isabel Sanchez, Norma Serrano, Ana Isabel Orduz Galvis, Sandra Aruachan, Johanna Nuñez Castillo, Cecilia Frecha, Cecilia Riggi, Federico Jauk, Eva María Gómez García, Claudia Lorena Carranza, Vanessa Zamora, Gabriela Torres Mejía, Isabelle Romieu, Carlos Arturo Castañeda, Miluska Castillo, Rina Gitler, Adriana Antoniano, Ernesto Rojas Jiménez, Luis Enrique Romero Cruz, Fernando Vallejo Lecuona, Iván Delgado Enciso, Abril Bernardette Martínez Rizo, Alejandro Flores Carranza, Verónica Benites Godinez, Claudia Fabiola Méndez Catalá, Luis Alonso Herrera, Yolanda Irasema Chirino, Luis Ignacio Terrazas, Sandra Perdomo, Felipe Vaca Paniagua

Front Oncol. 2019; 9: 1429. Published online 2019 Dec 20. doi: 10.3389/fonc.2019.01429

PMCID:: PMC6933010

Abstract Article PDF–815K

Select item 68985793.

Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing

Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Arild Holth, Gabriel Capella, Ben Davidson, D. Gareth Evans, Alexandra Martins, Pål Møller, Eivind Hovig

Sci Rep. 2019; 9: 18555. Published online 2019 Dec 6. doi: 10.1038/s41598-019-54517-z

PMCID:: PMC6898579

Abstract Article PDF–1.7M

Select item 68828274.

Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients

Kentaro Sugino, Ryo Tamura, Hirofumi Nakaoka, Nozomi Yachida, Manako Yamaguchi, Yutaro Mori, Kaoru Yamawaki, Kazuaki Suda, Tatsuya Ishiguro, Sosuke Adachi, Masanori Isobe, Masayuki Yamaguchi, Katsunori Kashima, Teiichi Motoyama, Ituro Inoue, Kosuke Yoshihara, Takayuki Enomoto

Sci Rep. 2019; 9: 17808. Published online 2019 Nov 28. doi: 10.1038/s41598-019-54116-y

PMCID:: PMC6882827

Abstract Article PDF–1.5M

Select item 68684965.

Mutations of R882 change flanking sequence preferences of the DNA methyltransferase DNMT3A and cellular methylation patterns

Max Emperle, Sabrina Adam, Stefan Kunert, Michael Dukatz, Annika Baude, Christoph Plass, Philipp Rathert, Pavel Bashtrykov, Albert Jeltsch

Nucleic Acids Res. 2019 Dec 2; 47(21): 11355–11367. Published online 2019 Oct 17. doi: 10.1093/nar/gkz911

PMCID:: PMC6868496

Abstract Article PDF–3.8M

Select item 65008726.

Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients

Rui Gong, Yuan He, Xiao-Yun Liu, Hai-Yun Wang, Li-Yue Sun, Xin-Hua Yang, Bin Li, Xin-Kai Cao, Zu-Lu Ye, Ling-Heng Kong, Da-Dong Zhang, Yu-Hong Li, Rui-Hua Xu, Jian-Yong Shao

Cancer Manag Res. 2019; 11: 3721–3739. Published online 2019 Apr 29. doi: 10.2147/CMAR.S193985

PMCID:: PMC6500872

Abstract Article PDF–3.2M

Select item 61865147.

Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms

Maeve A Lowery, Winston Wong, Emmet J Jordan, Jonathan W Lee, Yelena Kemel, Joseph Vijai, Diana Mandelker, Ahmet Zehir, Marinela Capanu, Erin Salo-Mullen, Angela G Arnold, Kenneth H Yu, Anna M Varghese, David P Kelsen, Robin Brenner, Erica Kaufmann, Vignesh Ravichandran, Semanti Mukherjee, Michael F Berger, David M Hyman, David S Klimstra, Ghassan K Abou-Alfa, Catherine Tjan, Christina Covington, Hannah Maynard, Peter J Allen, Gokce Askan, Steven D Leach, Christine A Iacobuzio-Donahue, Mark E Robson, Kenneth Offit, Zsofia K Stadler, Eileen M O’Reilly

J Natl Cancer Inst. 2018 Oct; 110(10): 1067–1074. Published online 2018 Feb 28. doi: 10.1093/jnci/djy024

PMCID:: PMC6186514

Abstract Article PDF–708K

Select item 58359108.

Monitoring colorectal cancer following surgery using plasma circulating tumor DNA

Xiao Sun, Tanxiao Huang, Fangsheng Cheng, Kaibing Huang, Ming Liu, Wan He, Mingwei Li, Xiaoni Zhang, Mingyan Xu, Shifu Chen, Ligang Xia

Oncol Lett. 2018 Apr; 15(4): 4365–4375. Published online 2018 Jan 22. doi: 10.3892/ol.2018.7837

PMCID:: PMC5835910

Abstract Article PDF–1.2M

Select item 58190829.

Identification of genetic variants for clinical management of familial colorectal tumors

Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig

BMC Med Genet. 2018; 19: 26. Published online 2018 Feb 20. doi: 10.1186/s12881-018-0533-9

PMCID:: PMC5819082

Abstract Article PDF–637K

Select item 535748810.

Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing

Anna Rohlin, Eva Rambech, Anders Kvist, Therese Törngren, Frida Eiengård, Ulf Lundstam, Theofanis Zagoras, Samuel Gebre-Medhin, Åke Borg, Jan Björk, Mef Nilbert, Margareta Nordling

Fam Cancer. 2017; 16(2): 195–203. Published online 2016 Sep 30. doi: 10.1007/s10689-016-9934-0

PMCID:: PMC5357488

Abstract Article PDF–437K

Select item 532655011.

Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment

Valentina S. Vysotskaia, Gregory J. Hogan, Genevieve M. Gould, Xin Wang, Alex D. Robertson, Kevin R. Haas, Mark R. Theilmann, Lindsay Spurka, Peter V. Grauman, Henry H. Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S. Chu, Kevin Iori, Jared R. Maguire, Kaylene Ready, Eric A. Evans, Hyunseok P. Kang, Imran S. Haque

PeerJ. 2017; 5: e3046. Published online 2017 Feb 23. doi: 10.7717/peerj.3046

PMCID:: PMC5326550

Abstract Article PDF–229K

Select item 468889412.

Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome

Seyedeh Ghazaleh Dashti, Rowena Chau, Driss Ait Ouakrim, Daniel D. Buchanan, Mark Clendenning, Joanne P. Young, Ingrid M. Winship, Julie Arnold, Dennis J. Ahnen, Robert W. Haile, Graham Casey, Steven Gallinger, Stephen N. Thibodeau, Noralane M. Lindor, Loïc Le Marchand, Polly A. Newcomb, John D. Potter, John A. Baron, John L. Hopper, Mark A. Jenkins, Aung Ko Win

JAMA. Author manuscript; available in PMC 2016 Jan 7.

Published in final edited form as: JAMA. 2015 Jul 7; 314(1): 61–71. doi: 10.1001/jama.2015.6789

PMCID:: PMC4688894

Abstract Article PDF–363K

Select item 460152413.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Jenny C Taylor, Hilary C Martin, Stefano Lise, John Broxholme, Jean-Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan, A. Radu Aricescu, Moustafa Attar, Christian Babbs, Jennifer Becq, David Beeson, Celeste Bento, Patricia Bignell, Edward Blair, Veronica J Buckle, Katherine Bull, Ondrej Cais, Holger Cario, Helen Chapel, Richard R Copley, Richard Cornall, Jude Craft, Karin Dahan, Emma E Davenport, Calliope Dendrou, Olivier Devuyst, Aimée L Fenwick, Jonathan Flint, Lars Fugger, Rodney D Gilbert, Anne Goriely, Angie Green, Ingo H. Greger, Russell Grocock, Anja V Gruszczyk, Robert Hastings, Edouard Hatton, Doug Higgs, Adrian Hill, Chris Holmes, Malcolm Howard, Linda Hughes, Peter Humburg, David Johnson, Fredrik Karpe, Zoya Kingsbury, Usha Kini, Julian C Knight, Jonathan Krohn, Sarah Lamble, Craig Langman, Lorne Lonie, Joshua Luck, Davis McCarthy, Simon J McGowan, Mary Frances McMullin, Kerry A Miller, Lisa Murray, Andrea H Németh, M Andrew Nesbit, David Nutt, Elizabeth Ormondroyd, Annette Bang Oturai, Alistair Pagnamenta, Smita Y Patel, Melanie Percy, Nayia Petousi, Paolo Piazza, Sian E Piret, Guadalupe Polanco-Echeverry, Niko Popitsch, Fiona Powrie, Chris Pugh, Lynn Quek, Peter A Robbins, Kathryn Robson, Alexandra Russo, Natasha Sahgal, Pauline A van Schouwenburg, Anna Schuh, Earl Silverman, Alison Simmons, Per Soelberg Sørensen, Elizabeth Sweeney, John Taylor, Rajesh V Thakker, Ian Tomlinson, Amy Trebes, Stephen RF Twigg, Holm H Uhlig, Paresh Vyas, Tim Vyse, Steven A Wall, Hugh Watkins, Michael P Whyte, Lorna Witty, Ben Wright, Chris Yau, David Buck, Sean Humphray, Peter J Ratcliffe, John I Bell, Andrew OM Wilkie, David Bentley, Peter Donnelly, Gilean McVean

Nat Genet. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Nat Genet. 2015 Jul; 47(7): 717–726. Published online 2015 May 18. doi: 10.1038/ng.3304

PMCID:: PMC4601524

Abstract Article PDF–1.3M

Select item 439407414.

Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases

Jun-Xiao Zhang, Lei Fu, Richarda M de Voer, Marc-Manuel Hahn, Peng Jin, Chen-Xi Lv, Eugène TP Verwiel, Marjolijn JL Ligtenberg, Nicoline Hoogerbrugge, Roland P Kuiper, Jian-Qiu Sheng, Ad Geurts van Kessel

World J Gastroenterol. 2015 Apr 14; 21(14): 4136–4149. Published online 2015 Apr 14. doi: 10.3748/wjg.v21.i14.4136

PMCID:: PMC4394074

Abstract Article PDF–1.5M

Select item 433962315.

Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer

Robert C. Grant, Iris Selander, Ashton A. Connor, Shamini Selvarajah, Ayelet Borgida, Laurent Briollais, Gloria M. Petersen, Jordan Lerner-Ellis, Spring Holter, Steven Gallinger

Gastroenterology. Author manuscript; available in PMC 2016 Mar 1.

Published in final edited form as: Gastroenterology. 2015 Mar; 148(3): 556–564. Published online 2014 Dec 2. doi: 10.1053/j.gastro.2014.11.042

PMCID:: PMC4339623

Abstract Article PDF–251K

Select item 409162416.

The Risk of Pancreatic Cancer in Families with Lynch Syndrome

Fay Kastrinos, Bhramar Mukherjee, Nabihah Tayob, Fei Wang, Jennifer Sparr, Victoria M. Raymond, Prathap Bandipalliam, Elena M. Stoffel, Stephen B. Gruber, Sapna Syngal

JAMA. Author manuscript; available in PMC 2014 Jul 10.

Published in final edited form as: JAMA. 2009 Oct 28; 302(16): 1790–1795. doi: 10.1001/jama.2009.1529

PMCID:: PMC4091624

Abstract Article PDF–255K

Select item 385073417.

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

Sanne M Petersen, Mette Dandanell, Lene J Rasmussen, Anne-Marie Gerdes, Lotte N Krogh, Inge Bernstein, Henrik Okkels, Friedrik Wikman, Finn C Nielsen, Thomas v O Hansen

BMC Med Genet. 2013; 14: 103. Published online 2013 Oct 3. doi: 10.1186/1471-2350-14-103

PMCID:: PMC3850734

Abstract Article PDF–497K

Select item 330535418.

Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries

Erika Maria Monteiro Santos, Mev Dominguez Valentin, Felipe Carneiro, Ligia Petrolini de Oliveira, Fabio de Oliveira Ferreira, Samuel Aguiar Junior, Wilson Toshihiko Nakagawa, Israel Gomy, Victor Evangelista de Faria Ferraz, Wilson Araujo da Silva Junior, Dirce Maria Carraro, Benedito Mauro Rossi

BMC Cancer. 2012; 12: 64. Published online 2012 Feb 9. doi: 10.1186/1471-2407-12-64

PMCID:: PMC3305354

Abstract Article PDF–260K

Select item 298743419.

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2)

Nils Rahner, Verena Steinke, Brigitte Schlegelberger, Sylviane Olschwang, François Eisinger, Pierre Hutter

Eur J Hum Genet. 2010 Sep; 18(9) Published online 2010 Jan 27. doi: 10.1038/ejhg.2009.232

PMCID:: PMC2987434

Article PDF–149K

Select item 296683720.

Oligonucleotide-Mediated Gene Targeting in Human Hepatocytes: Implications of Mismatch Repair

Olga Igoucheva, Vitali Alexeev, Helen Anni, Emanuel Rubin

Oligonucleotides. 2008 Jun; 18(2): 111–122. doi: 10.1089/oli.2008.0120

PMCID:: PMC2966837

Abstract Article PDF–858K

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