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1. Tumor protein p53 (TP53) testing and li-fraumeni syndrome: Current status of clinical applications and future directions
by Sorrell, April D and Espenschied, Carin R and Culver, Julie O and Weitzel, Jeffrey N
Molecular Diagnosis and Therapy, ISSN 1177-1062, 02/2013, Volume 17, Issue 1, pp. 31 - 47
Prevalent as an acquired abnormality in cancer, the role of tumor protein p53 (TP53) as a germline mutation continues to evolve. The clinical impact of a... 
BREAST-CANCER | MAMMOGRAPHIC DENSITY | GENETICS & HEREDITY | GERMLINE MUTATIONS | MUTANT P53 | MYELOGENOUS LEUKEMIA | CHRONIC LYMPHOCYTIC-LEUKEMIA | PHARMACOLOGY & PHARMACY | PREDICTIVE-VALUE | CHOROID-PLEXUS TUMORS | SOFT-TISSUE-SARCOMA | OLIGONUCLEOTIDE OLP53 | Breast cancer | Mutation | Genes | Tumors
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2. Full Text Reflex Immunohistochemistry and Microsatellite Instability Testing of Colorectal Tumors for Lynch Syndrome Among US Cancer Programs and Follow-Up of Abnormal Results
by Laura C. Beamer and Marcia L. Grant and Carin R. Espenschied and Kathleen R. Blazer and Heather L. Hampel and Jeffrey N. Weitzel and Deborah J. MacDonald
Journal of Clinical Oncology, ISSN 0732-183X, 04/2012, Volume 30, Issue 10, pp. 1058 - 1063
Purpose Immunohistochemistry (IHC) for MLH1, MSH2, MSH6, and PMS2 protein expression and microsatellite instability (MSI) are well-established tools to screen... 
INDIVIDUALS | MORTALITY | NONPOLYPOSIS COLON-CANCER | REDUCING MORBIDITY | HEREDITARY | ONCOLOGY | MISMATCH REPAIR | ASSOCIATION | STRATEGIES | United States - epidemiology | Microsatellite Instability | Cross-Sectional Studies | Genetic Testing - statistics & numerical data | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Middle Aged | Logistic Models | Male | Referral and Consultation - statistics & numerical data | Informed Consent - statistics & numerical data | Immunohistochemistry - statistics & numerical data | Adult | Female | Standard of Care - trends | Aged | Program Evaluation | Colorectal Neoplasms - pathology | Health Care Surveys | Gdln2 | Original Reports | Epid1
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3. Full Text Advances in the diagnosis of hereditary kidney cancer: Initial results of a multigene panel test
by Nguyen, Kevin A and Syed, Jamil S and Espenschied, Carin R and LaDuca, Holly and Bhagat, Ansh M and Suarez‐Sarmiento, Alfredo and O'Rourke, Timothy K and Brierley, Karina L and Hofstatter, Erin W and Shuch, Brian
Cancer, ISSN 0008-543X, 11/2017, Volume 123, Issue 22, pp. 4363 - 4371
BACKGROUND Panel testing has been recently introduced to evaluate hereditary cancer; however, limited information is available regarding its use in kidney... 
early diagnosis | hereditary | kidney neoplasms | neoplastic syndromes | genetic testing | age of onset | PREDISPOSES | AMERICAN-COLLEGE | RISK | MEDICAL GENETICS | LYNCH SYNDROME | BREAST | MELANOMA | ONCOLOGY | COLORECTAL-CANCER | MUTATION | CARCINOMA | Early Detection of Cancer - trends | Genetic Predisposition to Disease | Kidney Neoplasms - genetics | Early Detection of Cancer - methods | Humans | Middle Aged | Transcriptome | Neoplastic Syndromes, Hereditary - diagnosis | Male | Proto-Oncogene Proteins - genetics | DNA Mutational Analysis - methods | Kidney Neoplasms - diagnosis | Tumor Suppressor Proteins - genetics | Adult | Female | Neoplastic Syndromes, Hereditary - genetics | Retrospective Studies | Genetic Testing - trends | Usage | Cancer patients | Diagnosis | Panel analysis | Health aspects | Kidney cancer | Tuberous sclerosis 2 protein | Microphthalmia-associated transcription factor | Mesenchyme | Genes | Disorders | Tuberous sclerosis | Homology | Histology | Regression analysis | Multivariate analysis | Patients | Genetic screening | c-Met protein | Fumarate hydratase | TSC2 protein | Genetic counseling | Genetics | Mutation | Age | Cancer | Kidney transplantation
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4. Full Text Advances in the diagnosis of hereditary kidney cancer: Initial results of a multigene panel test
: Multigene Panel Test for Kidney Cancer
by Nguyen, Kevin A and Syed, Jamil S and Espenschied, Carin R and LaDuca, Holly and Bhagat, Ansh M and Suarez-Sarmiento, Alfredo and O'Rourke, Timothy K and Brierley, Karina L and Hofstatter, Erin W and Shuch, Brian
Cancer, ISSN 0008-543X, 11/2017, Volume 123, Issue 22, pp. 4363 - 4371
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5. Full Text Multigene panel testing provides a new perspective on Lynch syndrome
by Espenschied, Carin R and LaDuca, Holly and Li, Shuwei and McFarland, Rachel and Gau, Chia-Ling and Hampel, Heather
Journal of Clinical Oncology, ISSN 0732-183X, 08/2017, Volume 35, Issue 22, pp. 2568 - 2575
Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer... 
ONCOLOGY | NONPOLYPOSIS COLORECTAL-CANCER | MICROSATELLITE INSTABILITY | GENES | GERMLINE MUTATIONS | MSH6 MUTATIONS | OVARIAN-CANCER | RISK-ASSESSMENT | EXPRESSION | BREAST | IMMUNOHISTOCHEMISTRY | Humans | Middle Aged | Male | DNA Mismatch Repair - genetics | Genetic Testing - methods | Young Adult | DNA Mutational Analysis | Epithelial Cell Adhesion Molecule - genetics | Aged, 80 and over | Genes, BRCA2 | Adult | Female | DNA, Neoplasm - analysis | Retrospective Studies | Genes, BRCA1 | Child | Risk Assessment | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | MutS Homolog 2 Protein - genetics | DNA-Binding Proteins - genetics | Phenotype | Breast Neoplasms - genetics | MutL Protein Homolog 1 - genetics | Adolescent | Aged | Mutation | Mismatch Repair Endonuclease PMS2 - genetics
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6. Full Text Closing the loop: Action research in a multimodal hereditary cancer patient conference is an effective tool to assess and address patient needs
by Espenschied, Carin R and MacDonald, Deborah J and Culver, Julie O and Sand, Sharon and Hurley, Karen and Banks, Kimberly C and Weitzel, Jeffrey N and Blazer, Kathleen R
Journal of Cancer Education, ISSN 0885-8195, 06/2012, Volume 27, Issue 3, pp. 467 - 477
This paper describes the use of action research in a patient conference to provide updated hereditary cancer information, explore patient and family member... 
BRCA | Patient experiences | Genetic counseling | Patient conference | Patient needs | BRCA1 | CARRIERS | BREAST | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | RISK ASSESSMENT | ONCOLOGY | GENETICS | HEALTH-CARE | MUTATIONS | EDUCATION, SCIENTIFIC DISCIPLINES | Genetic Predisposition to Disease - psychology | Genetic Counseling - organization & administration | Risk Assessment | Humans | Breast Neoplasms - genetics | Health Services Research - organization & administration | Congresses as Topic - organization & administration | Breast Neoplasms - psychology | Genes, BRCA2 | Family | Female | Genes, BRCA1 | Program Evaluation | Needs Assessment | Conferences | Patients | Risk assessment | Cancer
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7. Full Text Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent
by Powis, Zöe and Espenschied, Carin R and LaDuca, Holly and Hagman, Kelly D and Paudyal, Tripti and Li, Shuwei and Inaba, Hiroto and Mauer, Ann and Nathanson, Katherine L and Knost, James and Chao, Elizabeth C and Tang, Sha
Cancer Genetics, ISSN 2210-7762, 08/2018, Volume 224-225, pp. 12 - 20
Clinical diagnostic exome sequencing (DES) has been effective in diagnosing individuals with suspected genetic conditions; nevertheless little has been... 
Germline testing | Diagnostic exome sequencing | Novel genetic etiology | Hereditary cancer | OVARY | RECOMBINATION | ETV6 MUTATIONS | ONCOLOGY | PREDISPOSITION | LINE | GENETICS & HEREDITY | SMALL-CELL CARCINOMA | HYPERCALCEMIC TYPE | THROMBOCYTOPENIA | Genetic Predisposition to Disease | Humans | Middle Aged | Child, Preschool | Infant | Male | Genetic Testing - methods | Exome | Young Adult | Neoplasms - genetics | Adolescent | Aged, 80 and over | Adult | Female | Aged | Neoplasms - pathology | Child | Case studies | Oncology, Experimental | Genes | Genetic research | Genetic aspects | Diagnosis | Research | Children | Health aspects | Cancer
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8. Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome : current status of clinical applications and future directions
by Sorrell, April D and Espenschied, Carin R and Culver, Julie O and Weitzel, Jeffrey N
Molecular diagnosis & therapy, 02/2013, Volume 17, Issue 1, p. 31
Prevalent as an acquired abnormality in cancer, the role of tumor protein p53 (TP53) as a germline mutation continues to evolve. The clinical impact of a... 
Humans | Brain Neoplasms - genetics | Genetic Association Studies - methods | Li-Fraumeni Syndrome - diagnosis | Genetic Testing - methods | Tumor Suppressor Protein p53 - genetics | Adrenal Cortex Neoplasms - genetics | Li-Fraumeni Syndrome - genetics | Tumor Suppressor Protein p53 - analysis | Genes, p53 | Breast Neoplasms - genetics | Pedigree | Germ-Line Mutation | Female | Sarcoma - genetics
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9. Full Text Spectrum of Mismatch Repair Gene Mutations and Clinical Presentation of Hispanic Individuals with Lynch syndrome
by Sunga, Annette Y and Ricker, Charité and Espenschied, Carin R and Castillo, Danielle and Melas, Marilena and Herzog, Josef and Bannon, Sarah and Cruz-Correa, Marcia and Lynch, Patrick and Solomon, Ilana and Gruber, Stephen B and Weitzel, Jeffrey N
Cancer Genetics, ISSN 2210-7762, 2017, Volume 212-213, pp. 1 - 7
Highlights • Nine recurrent Hispanic mutations were observed in sample of a Hispanic patients seen for genetic cancer risk assessment • Three of these were... 
Hematology, Oncology and Palliative Medicine | Medical Education | MSH6 | MSH2 | colon cancer | PMS2 | MMR mutations | MLH1 | Hispanics | Lynch syndrome | NONPOLYPOSIS COLORECTAL-CANCER | GUIDELINES | MSH2 MUTATIONS | SEQUENCE VARIANTS | REARRANGEMENTS | RISK ASSESSMENT | ONCOLOGY | FAMILIES | FREQUENCY | GENETICS & HEREDITY | GERMLINE MUTATIONS | Hispanic Americans - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Humans | Middle Aged | DNA Repair Enzymes - genetics | Male | DNA-Binding Proteins - genetics | Genotyping Techniques | DNA Mismatch Repair | Adult | Female | Retrospective Studies | Mutation | Colorectal Neoplasms, Hereditary Nonpolyposis - ethnology | Gene mutations | Genetic aspects | Hispanic Americans | Colon cancer | Genes | Genetic research | Genetic screening
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10. Full Text Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
by Thompson, Bryony A and Spurdle, Amanda B and Plazzer, John-Paul and Greenblatt, Marc S and Akagi, Kiwamu and Al-Mulla, Fahd and Bapat, Bharati and Bernstein, Inge and Capellá, Gabriel and den Dunnen, Johan T and du Sart, Desiree and Fabre, Aurelie and Farrell, Michael P and Farrington, Susan M and Frayling, Ian M and Frebourg, Thierry and Goldgar, David E and Heinen, Christopher D and Holinski-Feder, Elke and Kohonen-Corish, Maija and Robinson, Kristina Lagerstedt and Leung, Suet Yi and Martins, Alexana and Moller, Pal and Morak, Monika and Nystrom, Minna and Peltomaki, Paivi and Pineda, Marta and Qi, Ming and Ramesar, Rajkumar and Rasmussen, Lene Juel and Royer-Pokora, Brigitte and Scott, Rodney J and Sijmons, Rolf and Tavtigian, Sean V and Tops, Carli M and Weber, Thomas and Wijnen, Juul and Woods, Michael O and Macrae, Finlay and Genuardi, Maurizio and Castillejo, Adela and Sexton, Aienne and Chan, Anthony K. W and Viel, Alessana and Blanco, Amie and French, Amy and Laner, Aneas and Wagner, Anja and Redeker, Bert and InSiGHT and on behalf of InSiGHT and Sahlgrenska akademin and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 2, pp. 107 - 115
The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their... 
COLON-CANCER | LYNCH-SYNDROME | UNKNOWN CLINICAL-SIGNIFICANCE | MISSENSE SUBSTITUTIONS | NONPOLYPOSIS COLORECTAL-CANCER | MICROSATELLITE INSTABILITY | GENETICS & HEREDITY | MSH6 GERMLINE MUTATIONS | SEQUENCE VARIANTS | HUMAN GENOME VARIATION | TUMOR CHARACTERISTICS | Gastrointestinal Neoplasms - genetics | Humans | Databases, Genetic | Classification - methods | Disease Management | Genetic Variation - genetics | DNA Mismatch Repair - genetics | Usage | Gastrointestinal tumors | Genetic aspects | Online databases | Research | DNA repair | Risk factors | Medical research | Meetings | Genes | Classification | Colorectal cancer | Mutation | Grants | Data bases | Life Sciences | Medicinsk genetik | Medical Genetics
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11. Full Text Secondary germline finding in liquid biopsy of a deceased patient; Case report and review of the literature
by Veyseh, Maedah and Ricker, Charite and Espenschied, Carin and Raymond, Victoria and D'Souza, Anishka and Barzi, Afsaneh
Frontiers in Oncology, ISSN 2234-943X, 07/2018, Volume 8, p. 259
Liquid biopsies are increasingly used in the care of patients with advanced cancers. These tests are used to find mutations and other genomic alterations,... 
Cell-free DNA | Germline mutation | Liquid biopsy | Hereditary cancer syndromes | Pancreaticobiliary neoplasms | CLINICAL-ONCOLOGY | PREVALENCE | BRCA2 | germline mutation | BREAST-CANCER | ONCOLOGY | hereditary cancer syndromes | cell-free DNA | UPDATE | MUTATIONS | POLICY STATEMENT | TUMOR DNA | liquid biopsy | pancreaticobiliary neoplasms | AMERICAN-SOCIETY
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12. Full Text Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort
by Fulk, Kelly and Fulk, Kelly and LaDuca, Holly and LaDuca, Holly and Black, Mary Helen and Black, Mary Helen and Qian, Dajun and Qian, Dajun and Tian, Yuan and Tian, Yuan and Yussuf, Amal and Yussuf, Amal and Espenschied, Carin and Espenschied, Carin and Jasperson, Kory and Jasperson, Kory
Familial Cancer, ISSN 1389-9600, 4/2019, Volume 18, Issue 2, pp. 197 - 201
Whether monoallelic MUTYH mutations increase female breast cancer risk remains controversial. This study aimed to determine if monoallelic MUTYH mutations are... 
Human Genetics | Biomedicine, general | Multigene panel testing | Monoallelic MUTYH | Biomedicine | MUTYH carrier | Colorectal cancer | Cancer Research | Breast cancer | Epidemiology | VARIANTS | GENE | ONCOLOGY | COLORECTAL-CANCER | POLYPOSIS | GENETICS & HEREDITY | MUTATIONS | Yuan (China) | Oncology, Experimental | Research | Health aspects | Risk factors | Cancer | Hormone replacement therapy | Mutation | Health risk assessment
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13. Full Text Hereditary leukemia due to rare RUNX1c splice variant (L472X) presents with eczematous phenotype
by Sorrell, A and Espenschied, C and Wang, W and Weitzel, J and Chu, S and Parker, P and Saldivar, S and Bhatia, R
International journal of clinical medicine, ISSN 2158-284X, 12/2012, Volume 3, Issue 7, pp. 607 - 613
Deleterious mutations in the gene cause hereditary leukemia due to a rare syndrome called Familial platelet Disorder with Associated Myeloid Malignancy... 
eczema | L472X | hereditary leukemia | RUNX1c isoform | FPDMM
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14. Full Text TumorNext-Lynch-MMR: A comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome
by Gray, Phillip N and Tsai, Pei and Chen, Daniel and Wu, Sitao and Hoo, Jayne and Mu, Wenbo and Li, Bing and Vuong, Huy and Lu, Hsiao-Mei and Batth, Navanjot and Willett, Sara and Uyeda, Lisa and Shah, Swati and Gau, Chia-Ling and Umali, Monalyn and Espenschied, Carin and Janicek, Mike and Brown, Sandra and Margileth, David and Dobrea, Lavinia and Wagman, Lawrence and Rana, Huma and Hall, Michael J and Ross, Theodora and Terdiman, Jonathan and Cullinane, Carey and Ries, Savita and Totten, Ellen and Elliott, Aaron M
Oncotarget, ISSN 1949-2553, 04/2018, Volume 9, Issue 29, pp. 20304 - 20322
The current algorithm for Lynch syndrome diagnosis is highly complex with multiple steps which can result in an extended time to diagnosis while depleting... 
Mismatch repair deficiency | Microsatellite instability | Next generation sequencing | Colorectal cancer | Lynch syndrome
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15. Full Text Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
by Thompson, B.A and Spurdle, A.B and Plazzer, J.P and Greenblatt, M.S and Akagi, K and Al-Mulla, F and Bapat, B and Bernstein, I and Capella, G and Dunnen, J.T. den and Sart, D. du and Fabre, A and Farrell, M.P and Farrington, S.M and Frayling, I.M and Frebourg, T and Goldgar, D.E and Heinen, C.D and Holinski-Feder, E and Kohonen-Corish, M and Robinson, K.L and Leung, S.Y and Martins, A and Moller, P and Morak, M and Nystrom, M and Peltomaki, P and Pineda, M and Qi, M and Ramesar, R and Rasmussen, L.J and Royer-Pokora, B and Scott, R.J and Sijmons, R and Tavtigian, S.V and Tops, C.M and Weber, T and Wijnen, J and Woods, M.O and Macrae, F and Genuardi, M and Mensenkamp, A.R and Ligtenberg, M.J.L and et al and Onkologi och Patologi, MV and Lund University and Oncology and Pathology, MV and Lunds universitet
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, pp. 107 - 115
The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their... 
Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Cancer and Oncology | Medicin och hälsovetenskap | Cancer och onkologi
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