keyword
MENU ▼
Read by QxMD icon Read
search

prostate cancer exome

keyword
https://www.readbyqxmd.com/read/27902461/whole-exome-sequencing-in-75-high-risk-families-with-validation-and-replication-in-independent-case-control-studies-identifies-tango2-or5h14-and-chad-as-new-prostate-cancer-susceptibility-genes
#1
Danielle M Karyadi, Milan S Geybels, Eric Karlins, Brennan Decker, Laura McIntosh, Amy Hutchinson, Suzanne Kolb, Shannon K McDonnell, Belynda Hicks, Sumit Middha, Liesel M FitzGerald, Melissa S DeRycke, Meredith Yeager, Daniel J Schaid, Stephen J Chanock, Stephen N Thibodeau, Sonja I Berndt, Janet L Stanford, Elaine A Ostrander
Prostate cancer (PCa) susceptibility is defined by a continuum from rare, high-penetrance to common, low-penetrance alleles. Research to date has concentrated on identification of variants at the ends of that continuum. Taking an alternate approach, we focused on the important but elusive class of low-frequency, moderately penetrant variants by performing disease model-based variant filtering of whole exome sequence data from 75 hereditary PCa families. Analysis of 341 candidate risk variants identified nine variants significantly associated with increased PCa risk in a population-based, case-control study of 2,495 men...
November 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/27900359/homozygous-inactivation-of-chek2-is-linked-to-a-familial-case-of-multiple-primary-lung-cancer-with-accompanying-cancers-in-other-organs
#2
Yoji Kukita, Jiro Okami, Noriko Yoneda-Kato, Ikuko Nakamae, Takeshi Kawabata, Masahiko Higashiyama, Junya Kato, Ken Kodama, Kikuya Kato
In clinical practice, there are a number of cancer patients with clear family histories, but the patients lack mutations in known familial cancer syndrome genes. Recent advances in genomic technologies have enhanced the possibility of identifying causative genes in such cases. Two siblings, an elder sister and a younger brother, were found to have multiple primary lung cancers at the age of 60. The former subsequently developed breast cancer and had a history of uterine myoma. The latter had initially developed prostate cancer at the age of 59 and had a history of colon cancer...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27844240/identification-of-a-rare-germline-nbn-gene-mutation-by-whole-exome-sequencing-in-a-lung-cancer-survivor-from-a-large-family-with-various-types-of-cancer
#3
Makia J Marafie, Mohammed Dashti, Fahd Al-Mulla
Nijmegen breakage syndrome is an autosomal recessive disorder caused by biallelic mutation in NBN gene. It is characterized by microcephaly, growth retardation, immuno-deficiency and cancer predisposition. The monoallelic carriers of NBN gene are also reported to be at increased risk of developing various types of malignancy. We have investigated an individual with lung cancer from an extended family segregating different types of hereditary cancer over several generations, including lung, breast, ovarian, colon, prostate and renal cancers...
November 14, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27701467/germline-variants-of-prostate-cancer-in-japanese-families
#4
Takahide Hayano, Hiroshi Matsui, Hirofumi Nakaoka, Nobuaki Ohtake, Kazuyoshi Hosomichi, Kazuhiro Suzuki, Ituro Inoue
Prostate cancer (PC) is the second most common cancer in men. Family history is the major risk factor for PC. Only two susceptibility genes were identified in PC, BRCA2 and HOXB13. A comprehensive search of germline variants for patients with PC has not been reported in Japanese families. In this study, we conducted exome sequencing followed by Sanger sequencing to explore responsible germline variants in 140 Japanese patients with PC from 66 families. In addition to known susceptibility genes, BRCA2 and HOXB13, we identified TRRAP variants in a mutually exclusive manner in seven large PC families (three or four patients per family)...
2016: PloS One
https://www.readbyqxmd.com/read/27532663/analysis-of-the-expression-and-single-nucleotide-variant-frequencies-of-the-butyrophilin-like-2-gene-in-patients-with-uveal-melanoma
#5
Adriana Amaro, Federica Parodi, Konrad Diedrich, Giovanna Angelini, Cornelia Götz, Silvia Viaggi, Irena Maric, Domenico Coviello, Maria Pia Pistillo, Anna Morabito, Mario Mandalà, Paola Ghiorzo, Paola Visconti, Marina Gualco, Luca Anselmi, Roberto Puzone, Francesco Lanza, Carlo Mosci, Federica Raggi, Maria Carla Bosco, Luigi Varesio, Michael Zeschnigk, Laura Spano, Paola Queirolo, Ulrich Pfeffer
Importance: Chromosome 6p amplification is associated with more benign behavior for uveal melanomas (UMs) with an otherwise high risk of metastasis conferred by chromosome 3 monosomy. Chromosome 6p contains several members of the B7 family of immune regulator genes, including butyrophilin-like 2 (BTNL2; OMIM, 606000), which is associated with prostate cancer risk and autoimmune diseases. Objective: To investigate the expression and variant allele frequencies of BTNL2, a candidate gene for chromosome 6 amplification, in patients with UM...
October 1, 2016: JAMA Ophthalmology
https://www.readbyqxmd.com/read/27486019/rare-variation-in-tet2-is-associated-with-clinically-relevant-prostate-carcinoma-in-african-americans
#6
Daniel C Koboldt, Krishna L Kanchi, Bin Gui, David E Larson, Robert S Fulton, William B Isaacs, Aldi Kraja, Ingrid B Borecki, Li Jia, Richard K Wilson, Elaine R Mardis, Adam S Kibel
BACKGROUND: Common variants have been associated with prostate cancer risk. Unfortunately, few are reproducibly linked to aggressive disease, the phenotype of greatest clinical relevance. One possible explanation is that rare genetic variants underlie a significant proportion of the risk for aggressive disease. METHOD: To identify such variants, we performed a two-stage approach using whole-exome sequencing followed by targeted sequencing of 800 genes in 652 aggressive prostate cancer patients and 752 disease-free controls in both African and European Americans...
November 2016: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/27463017/single-strand-dna-library-preparation-improves-sequencing-of-formalin-fixed-and-paraffin-embedded-ffpe-cancer-dna
#7
Mathias Stiller, Antje Sucker, Klaus Griewank, Daniela Aust, Gustavo Bruno Baretton, Dirk Schadendorf, Susanne Horn
DNA derived from formalin-fixed and paraffin-embedded (FFPE) tissue has been a challenge to large-scale genomic sequencing, due to its low quality and quantities. Improved techniques enabling the genome-wide analysis of FFPE material would be of great value, both from a research and clinical perspective.Comparing a single-strand DNA library preparation method originally developed for ancient DNA to conventional protocols using double-stranded DNA derived from FFPE material we obtain on average 900-fold more library molecules and improved sequence complexity from as little as 5 ng input DNA...
July 24, 2016: Oncotarget
https://www.readbyqxmd.com/read/27451135/intratumoral-and-intertumoral-genomic-heterogeneity-of-multifocal-localized-prostate-cancer-impacts-molecular-classifications-and-genomic-prognosticators
#8
Lei Wei, Jianmin Wang, Erika Lampert, Simon Schlanger, Adam D DePriest, Qiang Hu, Eduardo Cortes Gomez, Mitsuko Murakam, Sean T Glenn, Jeffrey Conroy, Carl Morrison, Gissou Azabdaftari, James L Mohler, Song Liu, Hannelore V Heemers
BACKGROUND: Next-generation sequencing is revealing genomic heterogeneity in localized prostate cancer (CaP). Incomplete sampling of CaP multiclonality has limited the implications for molecular subtyping, stratification, and systemic treatment. OBJECTIVE: To determine the impact of genomic and transcriptomic diversity within and among intraprostatic CaP foci on CaP molecular taxonomy, predictors of progression, and actionable therapeutic targets. DESIGN, SETTING, AND PARTICIPANTS: Four consecutive patients with clinically localized National Comprehensive Cancer Network intermediate- or high-risk CaP who did not receive neoadjuvant therapy underwent radical prostatectomy at Roswell Park Cancer Institute in June-July 2014...
July 20, 2016: European Urology
https://www.readbyqxmd.com/read/27433846/inherited-dna-repair-gene-mutations-in-men-with-metastatic-prostate-cancer
#9
MULTICENTER STUDY
Colin C Pritchard, Joaquin Mateo, Michael F Walsh, Navonil De Sarkar, Wassim Abida, Himisha Beltran, Andrea Garofalo, Roman Gulati, Suzanne Carreira, Rosalind Eeles, Olivier Elemento, Mark A Rubin, Dan Robinson, Robert Lonigro, Maha Hussain, Arul Chinnaiyan, Jake Vinson, Julie Filipenko, Levi Garraway, Mary-Ellen Taplin, Saud AlDubayan, G Celine Han, Mallory Beightol, Colm Morrissey, Belinda Nghiem, Heather H Cheng, Bruce Montgomery, Tom Walsh, Silvia Casadei, Michael Berger, Liying Zhang, Ahmet Zehir, Joseph Vijai, Howard I Scher, Charles Sawyers, Nikolaus Schultz, Philip W Kantoff, David Solit, Mark Robson, Eliezer M Van Allen, Kenneth Offit, Johann de Bono, Peter S Nelson
BACKGROUND: Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer. Although the prevalence of germline mutations in DNA-repair genes among men with localized prostate cancer who are unselected for family predisposition is insufficient to warrant routine testing, the frequency of such mutations in patients with metastatic prostate cancer has not been established. METHODS: We recruited 692 men with documented metastatic prostate cancer who were unselected for family history of cancer or age at diagnosis...
August 4, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27408704/advances-in-genetics-widening-our-understanding-of-prostate-cancer
#10
REVIEW
Angela C Pine, Flavia F Fioretti, Greg N Brooke, Charlotte L Bevan
Prostate cancer is a leading cause of cancer-related death in Western men. Our understanding of the genetic alterations associated with disease predisposition, development, progression, and therapy response is rapidly improving, at least in part, owing to the development of next-generation sequencing technologies. Large advances have been made in our understanding of the genetics of prostate cancer through the application of whole-exome sequencing, and this review summarises recent advances in this field and discusses how exome sequencing could be used clinically to promote personalised medicine for prostate cancer patients...
2016: F1000Research
https://www.readbyqxmd.com/read/27262462/genome-wide-association-of-familial-prostate-cancer-cases-identifies-evidence-for-a-rare-segregating-haplotype-at-8q24-21
#11
Craig C Teerlink, Daniel Leongamornlert, Tokhir Dadaev, Alun Thomas, James Farnham, Robert A Stephenson, Shaun Riska, Shannon K McDonnell, Daniel J Schaid, William J Catalona, S Lilly Zheng, Kathleen A Cooney, Anna M Ray, Kimberly A Zuhlke, Ethan M Lange, Graham G Giles, Melissa C Southey, Liesel M Fitzgerald, Antje Rinckleb, Manuel Luedeke, Christiane Maier, Janet L Stanford, Elaine A Ostrander, Elina M Kaikkonen, Csilla Sipeky, Teuvo Tammela, Johanna Schleutker, Kathleen E Wiley, Sarah D Isaacs, Patrick C Walsh, William B Isaacs, Jianfeng Xu, Geraldine Cancel-Tassin, Olivier Cussenot, Diptasri Mandal, Cecelia Laurie, Cathy Laurie, Stephen N Thibodeau, Rosalind A Eeles, Zsofia Kote-Jarai, Lisa Cannon-Albright
Previous genome-wide association studies (GWAS) of prostate cancer risk focused on cases unselected for family history and have reported over 100 significant associations. The International Consortium for Prostate Cancer Genetics (ICPCG) has now performed a GWAS of 2511 (unrelated) familial prostate cancer cases and 1382 unaffected controls from 12 member sites. All samples were genotyped on the Illumina 5M+exome single nucleotide polymorphism (SNP) platform. The GWAS identified a significant evidence for association for SNPs in six regions previously associated with prostate cancer in population-based cohorts, including 3q26...
August 2016: Human Genetics
https://www.readbyqxmd.com/read/27160946/comprehensive-drug-testing-of-patient-derived-conditionally-reprogrammed-cells-from-castration-resistant-prostate-cancer
#12
Khalid Saeed, Vesa Rahkama, Samuli Eldfors, Dmitry Bychkov, John Patrick Mpindi, Bhagwan Yadav, Lassi Paavolainen, Tero Aittokallio, Caroline Heckman, Krister Wennerberg, Donna M Peehl, Peter Horvath, Tuomas Mirtti, Antti Rannikko, Olli Kallioniemi, Päivi Östling, Taija M Af Hällström
BACKGROUND: Technology development to enable the culture of human prostate cancer (PCa) progenitor cells is required for the identification of new, potentially curative therapies for PCa. OBJECTIVE: We established and characterized patient-derived conditionally reprogrammed cells (CRCs) to assess their biological properties and to apply these to test the efficacies of drugs. DESIGN, SETTING, AND PARTICIPANTS: CRCs were established from seven patient samples with disease ranging from primary PCa to advanced castration-resistant PCa (CRPC)...
May 5, 2016: European Urology
https://www.readbyqxmd.com/read/27084275/determining-the-frequency-of-pathogenic-germline-variants-from-exome-sequencing-in-patients-with-castrate-resistant-prostate-cancer
#13
Steven N Hart, Marissa S Ellingson, Kim Schahl, Peter T Vedell, Rachel E Carlson, Jason P Sinnwell, Poulami Barman, Hugues Sicotte, Jeanette E Eckel-Passow, Liguo Wang, Krishna R Kalari, Rui Qin, Teresa M Kruisselbrink, Rafael E Jimenez, Alan H Bryce, Winston Tan, Richard Weinshilboum, Liewei Wang, Manish Kohli
OBJECTIVES: To determine the frequency of pathogenic inherited mutations in 157 select genes from patients with metastatic castrate-resistant prostate cancer (mCRPC). DESIGN: Observational. SETTING: Multisite US-based cohort. PARTICIPANTS: Seventy-one adult male patients with histological confirmation of prostate cancer, and had progressive disease while on androgen deprivation therapy. RESULTS: Twelve patients (17...
2016: BMJ Open
https://www.readbyqxmd.com/read/27014907/genomic-and-epigenomic-analysis-of-high-risk-prostate-cancer-reveals-changes-in-hydroxymethylation-and-tet1
#14
Lien Spans, Thomas Van den Broeck, Elien Smeets, Stefan Prekovic, Bernard Thienpont, Diether Lambrechts, R Jeffrey Karnes, Nicholas Erho, Mohammed Alshalalfa, Elai Davicioni, Christine Helsen, Thomas Gevaert, Lorenzo Tosco, Karin Haustermans, Evelyne Lerut, Steven Joniau, Frank Claessens
The clinical heterogeneity of prostate cancer (PCa) makes it difficult to identify those patients that could benefit from more aggressive treatments. As a contribution to a better understanding of the genomic changes in the primary tumor that are associated with the development of high-risk disease, we performed exome sequencing and copy number determination of a clinically homogeneous cohort of 47 high-risk PCas. We confirmed recurrent mutations in SPOP, PTEN and TP53 among the 850 point mutations we detected...
April 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/26928463/substantial-interindividual-and-limited-intraindividual-genomic-diversity-among-tumors-from-men-with-metastatic-prostate-cancer
#15
Akash Kumar, Ilsa Coleman, Colm Morrissey, Xiaotun Zhang, Lawrence D True, Roman Gulati, Ruth Etzioni, Hamid Bolouri, Bruce Montgomery, Thomas White, Jared M Lucas, Lisha G Brown, Ruth F Dumpit, Navonil DeSarkar, Celestia Higano, Evan Y Yu, Roger Coleman, Nikolaus Schultz, Min Fang, Paul H Lange, Jay Shendure, Robert L Vessella, Peter S Nelson
Tumor heterogeneity may reduce the efficacy of molecularly guided systemic therapy for cancers that have metastasized. To determine whether the genomic alterations in a single metastasis provide a reasonable assessment of the major oncogenic drivers of other dispersed metastases in an individual, we analyzed multiple tumors from men with disseminated prostate cancer through whole-exome sequencing, array comparative genomic hybridization (CGH) and RNA transcript profiling, and we compared the genomic diversity within and between individuals...
April 2016: Nature Medicine
https://www.readbyqxmd.com/read/26924278/mutation-of-med12-is-not-a-frequent-occurrence-in-prostate-cancer-of-korean-patients
#16
Nara Yoon, Sharon Lim, So Young Kang, Ghee Young Kwon, Hwang Gyun Jeon, Byong Chang Jeong, Seong Il Seo, Seong Soo Jeon, Hyun Moo Lee, Han Yong Choi
Prostate cancer is one of the major health care problems, but the molecular pathogenesis has been relatively insufficiently elucidated. Recently, whole exome sequencing of prostate cancer identified recurrent mutations involving MED12 in Caucasian patients, which finding was not reproduced in one subsequent study by Sanger sequencing. Thus, we investigated mutation status of MED12 in exons 2 and 26 by Sanger sequencing in 102 radical prostatectomy cases from Korean patients. The analysis found the mutation in none of the cases...
February 29, 2016: Asian Journal of Andrology
https://www.readbyqxmd.com/read/26921337/mutational-landscape-of-aggressive-prostate-tumors-in-african-american-men
#17
Karla J Lindquist, Pamela L Paris, Thomas J Hoffmann, Niall J Cardin, Rémi Kazma, Joel A Mefford, Jeffrey P Simko, Vy Ngo, Yalei Chen, Albert M Levin, Dhananjay Chitale, Brian T Helfand, William J Catalona, Benjamin A Rybicki, John S Witte
Prostate cancer is the most frequently diagnosed and second most fatal nonskin cancer among men in the United States. African American men are two times more likely to develop and die of prostate cancer compared with men of other ancestries. Previous whole genome or exome tumor-sequencing studies of prostate cancer have primarily focused on men of European ancestry. In this study, we sequenced and characterized somatic mutations in aggressive (Gleason ≥7, stage ≥T2b) prostate tumors from 24 African American patients...
April 1, 2016: Cancer Research
https://www.readbyqxmd.com/read/26855148/divergent-clonal-evolution-of-castration-resistant-neuroendocrine-prostate-cancer
#18
Himisha Beltran, Davide Prandi, Juan Miguel Mosquera, Matteo Benelli, Loredana Puca, Joanna Cyrta, Clarisse Marotz, Eugenia Giannopoulou, Balabhadrapatruni V S K Chakravarthi, Sooryanarayana Varambally, Scott A Tomlins, David M Nanus, Scott T Tagawa, Eliezer M Van Allen, Olivier Elemento, Andrea Sboner, Levi A Garraway, Mark A Rubin, Francesca Demichelis
An increasingly recognized resistance mechanism to androgen receptor (AR)-directed therapy in prostate cancer involves epithelial plasticity, in which tumor cells demonstrate low to absent AR expression and often have neuroendocrine features. The etiology and molecular basis for this 'alternative' treatment-resistant cell state remain incompletely understood. Here, by analyzing whole-exome sequencing data of metastatic biopsies from patients, we observed substantial genomic overlap between castration-resistant tumors that were histologically characterized as prostate adenocarcinomas (CRPC-Adeno) and neuroendocrine prostate cancer (CRPC-NE); analysis of biopsy samples from the same individuals over time points to a model most consistent with divergent clonal evolution...
March 2016: Nature Medicine
https://www.readbyqxmd.com/read/26695660/mutational-landscapes-of-sequential-prostate-metastases-and-matched-patient-derived-xenografts-during-enzalutamide-therapy
#19
Manish Kohli, Liguo Wang, Fang Xie, Hugues Sicotte, Ping Yin, Scott M Dehm, Steven N Hart, Peter T Vedell, Poulami Barman, Rui Qin, Douglas W Mahoney, Rachel E Carlson, Jeanette E Eckel-Passow, Thomas D Atwell, Patrick W Eiken, Brendan P McMenomy, Eric D Wieben, Gautam Jha, Rafael E Jimenez, Richard Weinshilboum, Liewei Wang
Developing patient derived models from individual tumors that capture the biological heterogeneity and mutation landscape in advanced prostate cancer is challenging, but essential for understanding tumor progression and delivery of personalized therapy in metastatic castrate resistant prostate cancer stage. To demonstrate the feasibility of developing patient derived xenograft models in this stage, we present a case study wherein xenografts were derived from cancer metastases in a patient progressing on androgen deprivation therapy and prior to initiating pre-chemotherapy enzalutamide treatment...
2015: PloS One
https://www.readbyqxmd.com/read/26606177/cytogenetics-and-molecular-genetics-of-prostate-cancer-a-comprehensive-update
#20
Laksha N Fonseka, Michael E Kallen, Alejandro Serrato-Guillen, Randy Chow, Carlos A Tirado
Prostate cancer (PCa) is the one of the most commonly diagnosed cancers in males living in the United States, and approximately 222,800 men will contract PCa in 2015. Recent molecular studies have found novel genetic associations with PCa and genetic changes of potential clinical relevance in cancer detection and treatment. Single nucleotide polymorphism (SNP) arrays have revealed unique SNPs connected with patient ethnicity and other medical conditions, as well as uncovered new information on genes such as KLK3, which produces prostate specific antigen (PSA) and promotes PCa metastasis...
2015: Journal of the Association of Genetic Technologists
keyword
keyword
96314
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"