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Publication Listing for the MeSH term germline mutations. Found 18 abstracts

Gray PN, Vuong H, Tsai P, Lu HM, Mu W, Hsuan V, Hoo J, Shah S, Uyeda L, Fox S, Patel H, Janicek M, Brown S, Dobrea L, Wagman L, Plimack E, Mehra R, Golemis EA, Bilusic M, Zibelman M, Elliott A. TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy. Oncotarget. 2016 Sep 08;7(42):68206-28.   PMCID: PMC5356550
Belinsky MG, Rink L, Flieder DB, Jahromi MS, Schiffman JD, Godwin AK, von Mehren M. Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors. Genes Chromosomes & Cancer. 2013 Feb;52(2):214-24.   PMCID: PMC23109135
Finkelman BS, Rubinstein WS, Friedman S, Friebel TM, Dubitsky S, Schonberger NS, Shoretz R, Singer CF, Blum JL, Tung N, Olopade OI, Weitzel JN, Lynch HT, Snyder C, Garber JE, Schildkraut J, Daly MB, Isaacs C, Pichert G, Neuhausen SL, Couch FJ, van't Veer L, Eeles R, Bancroft E, Evans DG, Ganz PA, Tomlinson GE, Narod SA, Matloff E, Domchek S, Rebbeck TR. Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers. Journal of Clinical Oncology. 2012 Apr;30(12):1321-8.   PMCID: PMC3341145
Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, Neuhausen SL, John EM, Andrulis IL, Terry MB, Daly M, Buys S, Le Calvez-Kelm F, Lonie A, Pope BJ, Tsimiklis H, Voegele C, Hilbers FM, Hoogerbrugge N, Barroso A, Osorio A, Giles GG, Devilee P, Benitez J, Hopper JL, Tavtigian SV, Goldgar DE, Southey MC. Rare Mutations in XRCC2 Increase the Risk of Breast Cancer. American journal of human genetics. 2012 Apr;90(4):734-9.   PMCID: PMC3322233
Hoffman AM, Cairns P. Epigenetics of kidney cancer and bladder cancer. Epigenomics. 2011 Feb;3(1):19-34.   PMCID: NIHMS362391
Ramus SJ, Kartsonaki C, Gayther SA, Pharoah PD, Sinilnikova OM, Beesley J, Chen XQ, McGuffog L, Healey S, Couch FJ, Wang XS, Fredericksen Z, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Allavena A, Ottini L, Papi L, Gismondi V, Capra F, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H, Thomassen M, Gerdes AM, Kruse TA, Cruger D, Jensen UB, Caligo MA, Olsson H, Kristoffersson U, Lindblom A, Arver B, Karlsson P, Askmalm MS, Borg A, Neuhausen SL, Ding YC, Nathanson KL, Domchek SM, Jakubowska A, Lubinski J, Huzarski T, Byrski T, Gronwald J, Gorski B, Cybulski C, Debniak T, Osorio A, Duran M, Tejada MI, Benitez J, Hamann U, Rookus MA, Verhoef S, Tilanus-Linthorst MA, Vreeswijk MP, Bodmer D, Ausems M, van Os TA, Asperen CJ, Blok MJ, Meijers-Heijboer HE, Peock S, Cook M, Oliver C, Frost D, Dunning AM, Evans DG, Eeles R, Pichert G, Cole T, Hodgson S, Brewer C, Morrison PJ, Porteous M, Kennedy MJ, Rogers MT, Side LE, Donaldson A, Gregory H, Godwin A, Stoppa-Lyonnet D, Moncoutier V, Castera L, Mazoyer S, Barjhoux L, Bonadona V, Leroux D, Faivre L, Lidereau R, Nogues C, Bignon YJ, Prieur F, Collonge-Rame MA, Venat-Bouvet L, Fert-Ferrer S, Miron A, Buys SS, Hopper JL, Daly MB, John EM, Terry MB, Goldgar D, Hansen TV, Jonson L, Ejlertsen B, Agnarsson BA, Offit K, Kirchhoff T, Vijai J, Dutra-Clarke AV, Przybylo JA, Montagna M, Casella C, Imyanitov EN, Janavicius R, Blanco I, Lazaro C, Moysich KB, Karlan BY, Gross J, Beattie MS, Schmutzler R, Wappenschmidt B, Meindl A, Ruehl I, Fiebig B, Sutter C, Arnold N, Deissler H, Varon-Mateeva R, Kast K, Niederacher D, Gadzicki D, Caldes T, de la Hoya M, Nevanlinna H, Aittomaki K, Simard J, Soucy P, Spurdle AB, Holland H, Chenevix-Trench G, Easton DF, Antoniou AC. Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers. Journal of the National Cancer Institute. 2011 Jan;103(2):U31-U42.   PMCID: PMC3107565
Smith LD, Tesoriero AA, Wong EM, Ramus SJ, O'Malley FP, Mulligan AM, Terry MB, Senie RT, Santella RM, John EM, Andrulis IL, Ozcelik H, Daly MB, Godwin AK, Buys SS, Fox S, Goldgar DE, Giles GG, Hopper JL, Southey MC. Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry. Breast Cancer Research. 2011 Jan;13(1):R14.   PMCID: PMC3109582
Molatore S, Russo MT, D'Agostino VG, Barone F, Matsumoto Y, Albertini AM, Minoprio A, Degan P, Mazzei F, Bignami M, Ranzani GN. MUTYH Mutations Associated with Familial Adenomatous Polyposis: Functional Characterization by a Mammalian Cell-Based Assay. Human Mutation. 2010 Feb;31(2):159-66.   PMCID: not NIH funded
Chen XW, Truong TT, Weaver J, Bove BA, Cattie K, Armstrong BA, Daly MB, Godwin AK. Intronic alterations in BRCA1 and BRCA2: Effect on mRNA splicing fidelity and expression. HUMAN MUTATION. 2006 May;27(5):427-35.
Kittles RA, Baffoe-Bonnie AB, Moses TY, Robbins CM, Ahaghotu C, Huusko P, Pettaway C, Vijayakumar S, Bennett J, Hoke G, Mason T, Weinrich S, Trent JM, Collins FS, Mousses S, Bailey-Wilson J, Furbert-Harris P, Dunston G, Powell IJ, Carpten JD. A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history. JOURNAL OF MEDICAL GENETICS. 2006 Jun;43(6):507-11.
Baffoe-Bonnie AB, Smith JB, Stephan DA, Schleutker J, Carpten JD, Kainu T, Gillanders EM, Matikainen M, Teslovich TM, Tammela T, Sood R, Balshem AM, Scarborough SD, Xu JF, Isaacs WB, Trent JM, Kallioniemi OP, Bailey-Wilson JE. A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region. Human Genetics. 2005 Aug;117(4):307-16.
Larson GP, Ding Y, Cheng LS, Lundberg C, Gagalang V, Rivas G, Geller L, Weitzel J, MacDonald D, Archambeau J, Slater J, Neuberg D, Daly MB, Angel I, Benson AB, Smith K, Kirkwood JM, O'Dwyer PJ, Raskay B, Sutphen R, Drew R, Stewart JA, Werndli J, Johnson D, Ruckdeschel JC, Elston RC, Krontiris TG. Genetic linkage of prostate cancer risk to the chromosome 3 region bearing FHIT. Cancer Research. 2005 Feb;65(3):805-14.
Rokman A, Baffoe-Bonnie AB, Gillanders E, Fredriksson H, Autio V, Ikonen T, Gibbs KD, Jones MP, Gildea D, Freas-Lutz D, Markey C, Matikainen MP, Koivisto PA, Tammela TL, Kallioniemi OP, Trent J, Bailey-Wilson JE, Schleutker J. Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus. Human Genetics. 2005 Jan;116(1-2):43-50.
Gillanders EM, Xu JF, Chang BL, Lange EM, Wiklund F, Bailey-Wilson JE, Baffoe-Bonnie A, Jones M, Gildea D, Riedesel E, Albertus J, Isaacs SD, Wiley KE, Mohai CE, Matikainen MP, Tammela TL, Zheng SL, Brown WM, Rokman A, Carpten JD, Meyers DA, Walsh PC, Schleutker J, Gronberg H, Cooney KA, Isaacs WB, Trent JM. Combined genome-wide scan for prostate cancer susceptibility genes. Journal of the National Cancer Institute. 2004 Aug 18;96(16):1240-7.
Bruening W, Prowse AH, Schultz DC, Holgado-Madruga M, Wong A, Godwin AK. Expression of OVCA1, a candidate tumor suppressor, is reduced in tumors and inhibits growth of ovarian cancer cells. Cancer Research. 1999 Oct;59(19):4973-83.
Daly M. NCCN practice guidelines: Genetics/familial high-risk cancer screening. Oncology-New York. 1999 Nov;13(11A):161-82.
Rebbeck TR, Levin AM, Eisen A, Snyder C, Watson P, Cannon-Albright L, Isaacs C, Olopade O, Garber JE, Godwin AK, Daly MB, Narod SA, Neuhausen SL, Lynch HT, Weber BL. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. Journal of the National Cancer Institute. 1999 Sep;91(17):1475-9.
Salazar H, Godwin AK, Daly MB, Laub PB, Hogan WM, Rosenblum N, Boente MP, Lynch HT, Hamilton TC. Microscopic benign and invasive malignant neoplasms and a cancer-prone phenotype in prophylactic oophorectomies. Journal of the National Cancer Institute. 1996 Dec 18;88(24):1810-20.
The above publications are sorted by year, faculty last name, and first author. Click on any highlighted author listed to find all publications attributed to that individual. Click on the publication title to see the abstract. First authors who are faculty are highlighted like this. Last authors who are faculty are highlighted like this. Other authors who are faculty are highlighted like this.

MeSH cloud from publications including the MeSH term germline mutations

germline mutations families gene ovarian-cancer women risk carcinoma colorectal-cancer population chromosome breast-cancer disease locus identification susceptibility gene of-function mutations myh-associated polyposis heterogeneity translational application receptor gene cag RCC NMD aberrant transcript succinate-dehydrogenase encodes probe assay dna-repair cells methylation allelic association cowden-disease pairs carney triad dna methylation brca1 mutations penetrance linkage linkage disequilibrium family registry human genome cost-effectiveness BRCA2 complex traits deletions hereditary breast-cancer renal cell glycosylase activity tumor-suppressor gene actionable mutations ovarian surface epithelium sporadic breast-cancer oxidative dna-damage pulmonary chondroma e-cadherin tumor profiling copy number variants BRCA1 aberrant promoter susceptibility alleles ovarian cancer classification salpingo-oophorectomy variants of unknown significance nonsense familial breast primitive neuroectodermal tumors v600e braf mutations MUTYH gene mutations MUTYH-associated polyposis-functional analysis-mammalian cell assay-unclassified variants segregation analysis li-fraumeni-syndrome polymorphisms cowden-syndrome next generation sequencing uterine cervix inherited variants genetic alterations hpc1 multiple susceptibility loci schizophrenia promoter hypermethylation Genetics & Heredity basonuclin-2 nonsense-mediated mRNA decay bladder cancer population-based estimate metaanalysis breast cancer autosomal-dominant inheritance hysterectomy spontaneous transformation inversion copy number susceptibility loci 17p133 brca1 biallelic mutations brca2 ovulation splicing allelic loss tumors history cpg-island methylation susceptibility locus srd5a2 gene potential therapeutic target clear-cell cell lines proteins missense substitutions incessant tumor suppressor gene genome-wide scan 6174delt mutations susceptibility genes renal-cell carcinoma markers oral-contraceptives protein linkage analysis truncating brca1 dehydrogenase-deficient gists growth-factor-beta finland population stratification twins rad51c rearrangements instability decay homolog hmyh ashkenazi jews excision-repair variant carcinoma-cells sequence-analysis genome-wide association malignant-melanoma admixture dynamics methylome
Last updated on Friday, August 07, 2020