Germline Mutations in Predisposition Genes in Pediatric Cancer.
暂无分享,去创建一个
Li Ding | Amar Gajjar | Xiaotu Ma | Jinghui Zhang | Aman N. Patel | Elaine R Mardis | Dale Hedges | Michael Rusch | Ching-Hon Pui | John Easton | Shuoguo Wang | Mark R Wilkinson | Aman Patel | David W Ellison | Michael F Walsh | Gang Wu | Xin Zhou | Michael C. Rusch | Michael N. Edmonson | R. Wilson | E. Mardis | J. Downing | S. Shurtleff | C. Pui | L. Ding | M. Edmonson | D. Ellison | J. Easton | Gang Wu | Xiang Chen | Xiaotu Ma | D. Hedges | A. Pappo | M. Rusch | D. Yergeau | Jinghui Zhang | J. Becksfort | Bhavin Vadodaria | K. Nichols | Xin Zhou | M. Wilkinson | Shuoguo Wang | A. Gajjar | M. Walsh | Stacy J Hines-Dowell | Richard K Wilson | Xiang Chen | Bhavin Vadodaria | James R Downing | T. Gruber | Alberto S Pappo | Michael N Edmonson | Regina Nuccio | Donald A Yergeau | Sheila A Shurtleff | Tanja A Gruber | Rose B McGee | Stacy Hines-Dowell | Regina Nuccio | Emily Quinn | Jared B Becksfort | Meaghann S Weaver | Kim E Nichols | R. McGee | Emily A Quinn | M. Weaver | R. Wilson
[1] C. Mathew,et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer , 2007, Nature Genetics.
[2] Steven A. Roberts,et al. Mutational heterogeneity in cancer and the search for new cancer genes , 2014 .
[3] Maido Remm,et al. Enhancements and modifications of primer design program Primer3 , 2007, Bioinform..
[4] K. McBride,et al. The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly , 2009, Genetics in Medicine.
[5] K. Offit,et al. Ethical and legal implications of cancer genetic testing: do physicians have a duty to warn patients' relatives about possible genetic risks? , 2008, Journal of oncology practice.
[6] Y. Benjamini,et al. Controlling the false discovery rate: a practical and powerful approach to multiple testing , 1995 .
[7] Å. Borg,et al. Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes , 2008, Familial Cancer.
[8] C. Pui,et al. Biology, risk stratification, and therapy of pediatric acute leukemias: an update. , 2011, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[9] S. Spunt,et al. Ewing sarcoma‐family tumors that arise after treatment of primary childhood cancer , 2006, Cancer.
[10] D. Bentley,et al. Identification of the breast cancer susceptibility gene BRCA2 , 1995, Nature.
[11] C. Bonaïti‐pellié,et al. Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families , 2008, Journal of Medical Genetics.
[12] Baljit Singh,et al. Loss of heterozygosity in normal breast epithelial tissue and benign breast lesions in BRCA1/2 carriers with breast cancer. , 2004, Cancer Genetics and Cytogenetics.
[13] Amar Gajjar,et al. The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma , 2014, Nature Genetics.
[14] K. Nathanson,et al. Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic , 2006, Cancer biology & therapy.
[15] M. Greene,et al. Concise handbook of familial cancer susceptibility syndromes - second edition. , 2008, Journal of the National Cancer Institute. Monographs.
[16] David A. Williams,et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy , 2015, Nature Genetics.
[17] Richard W Tothill,et al. Next-generation sequencing for cancer diagnostics: a practical perspective. , 2011, The Clinical biochemist. Reviews.
[18] Sujit Kumar Tripathy,et al. Ewing’s sarcoma as second malignancy following a short latency in unilateral retinoblastoma , 2011, Journal of Orthopaedics and Traumatology.
[19] Y. Bombard,et al. Risks to Relatives in Genomic Research: A Duty to Warn? , 2012, The American journal of bioethics : AJOB.
[20] Larry N. Singh,et al. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. , 2012, American journal of human genetics.
[21] Å. Borg,et al. Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice versa , 2001, British Journal of Cancer.
[22] Matthew W. Wilson,et al. A Novel Retinoblastoma Therapy from Genomic and Epigenetic Analyses , 2011, Nature.
[23] P. Pizzo,et al. Principles and Practice of Pediatric Oncology , 1989 .
[24] R. Mittal,et al. Ewing’s Sarcoma as Second Malignant Neoplasm after Retinoblastoma: A Case Report , 2007, Medical Principles and Practice.
[25] Benjamin J. Raphael,et al. Integrated Analysis of Germline and Somatic Variants in Ovarian Cancer , 2014, Nature Communications.
[26] G. Giles,et al. Distinct molecular pathogeneses of early-onset breast cancers in BRCA1 and BRCA2 mutation carriers: a population-based study. , 1999, Cancer research.
[27] Michael C. Rusch,et al. CREST maps somatic structural variation in cancer genomes with base-pair resolution , 2011, Nature Methods.
[28] Steven E. Bayer,et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. , 1994, Science.
[29] Zhongming Zhao,et al. TSGene: a web resource for tumor suppressor genes , 2012, Nucleic Acids Res..
[30] M. Tsokos,et al. Ewing sarcoma and sinonasal neuroectodermal tumors as second malignant tumors after retinoblastoma and other neoplasms. , 2001, Medical and pediatric oncology.
[31] R. Nagarajan,et al. Hereditary cancer risk assessment in a pediatric oncology follow‐up clinic , 2012, Pediatric blood & cancer.
[32] Robert Huether,et al. The genomic landscape of hypodiploid acute lymphoblastic leukemia , 2013, Nature Genetics.
[33] Marc S. Williams,et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.
[34] Alan D. D'Andrea. Fanconi anemia , 2003, Current Biology.
[35] Martin Kircher,et al. Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. , 2015, Cancer discovery.
[36] A. Toland,et al. Methylation not a frequent “second hit” in tumors with germline BRCA mutations , 2009, Familial Cancer.
[37] Rohini Rau-Murthy,et al. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia , 2013, Nature Genetics.
[38] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[39] H. Samaratunga,et al. Loss of Heterozygosity at the BRCA2 Locus Detected by Multiplex Ligation-Dependent Probe Amplification is Common in Prostate Cancers from Men with a Germline BRCA2 Mutation , 2008, Clinical Cancer Research.
[40] Heather L. Mulder,et al. An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia. , 2012, Cancer cell.
[41] Hans Joenje,et al. Biallelic Inactivation of BRCA2 in Fanconi Anemia , 2002, Science.
[42] L. Cannon-Albright,et al. Is There a Predisposition Gene for Ewing's Sarcoma? , 2010, Journal of oncology.
[43] Kiran C. Bobba,et al. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia , 2012, Nature.
[44] W. Chung,et al. High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions. , 2013, Clinical cancer research : an official journal of the American Association for Cancer Research.
[45] E. Boerwinkle,et al. dbNSFP: A Lightweight Database of Human Nonsynonymous SNPs and Their Functional Predictions , 2011, Human mutation.
[46] T. Hubbard,et al. A census of human cancer genes , 2004, Nature Reviews Cancer.
[47] The "duty to warn" a patient's family members about hereditary disease risks. , 2005, JAMA.
[48] Yih-Leong Chang,et al. Comparison of p53 and Epidermal Growth Factor Receptor Gene Status Between Primary Tumors and Lymph Node Metastases in Non-Small Cell Lung Cancers , 2011, Annals of Surgical Oncology.
[49] Gayatry Mohapatra,et al. Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR , 2005, Nature Genetics.
[50] Diana Eccles,et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. , 2013, Journal of the National Cancer Institute.
[51] Aman N. Patel,et al. CONSERTING: integrating copy-number analysis with structural-variation detection , 2015, Nature Methods.
[52] J. Benítez,et al. Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer , 2002, International journal of cancer.
[53] Kenneth H. Buetow,et al. Bioinformatics Applications Note Sequence Analysis Bambino: a Variant Detector and Alignment Viewer for Next-generation Sequencing Data in the Sam/bam Format , 2022 .