المؤلفون: Sofia D. Merajver, Carlos Murga-Zamalloa, Ernest Adjei, Jessica Bensenhave, Kathy A. Toy, Lisa A. Newman, Kofi K. Gyan, Joseph K. Oppong, Aisha Jibril, Melissa Davis, Baffour Awuah, Celina G. Kleer, Mark J. Hoenerhoff, Barbara Salem, Max S. Wicha, Evelyn Jiagge, George Divine

المصدر: Journal of Global Oncology
Journal of Global Oncology, Vol 4, Pp 1-8 (2018)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, Cancer Research, medicine.medical_specialty, medicine.drug_class, Receptor, ErbB-2, Estrogen receptor, Black People, Breast Neoplasms, Triple Negative Breast Neoplasms, lcsh:RC254-282, Ghana, Aldehyde Dehydrogenase 1 Family, White People, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, Progesterone receptor, Biomarkers, Tumor, Medicine, Original Report, Humans, Receptor, business.industry, Retinal Dehydrogenase, Middle Aged, medicine.disease, Androgen, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Immunohistochemistry, United States, Androgen receptor, Black or African American, Gene Expression Regulation, Neoplastic, Isoenzymes, 030104 developmental biology, Receptors, Estrogen, Estrogen, Receptors, Androgen, 030220 oncology & carcinogenesis, Female, Ethiopia, business, Receptors, Progesterone

الوصف: Purpose Population-based incidence rates of breast cancers that are negative for estrogen receptor (ER), progesterone receptor, and human epidermal growth factor receptor 2/ neu (triple-negative breast cancer [TNBC]) are higher among African American (AA) compared with white American (WA) women, and TNBC prevalence is elevated among selected populations of African patients. The extent to which TNBC risk is related to East African versus West African ancestry, and whether these associations extend to expression of other biomarkers, is uncertain. Methods We used immunohistochemistry to evaluate estrogen receptor, progesterone receptor, human epidermal growth factor receptor 2/ neu, androgen receptor and aldehyde dehydrogenase 1 (ALDH1) expression among WA (n = 153), AA (n = 76), Ethiopian (Eth)/East African (n = 90), and Ghanaian (Gh)/West African (n = 286) patients with breast cancer through an institutional review board–approved international research program. Results Mean age at diagnosis was 43, 49, 60, and 57 years for the Eth, Gh, AA, and WA patients, respectively. TNBC frequency was higher for AA and Gh patients (41% and 54%, respectively) compared with WA and Eth patients (23% and 15%, respectively; P < .001) Frequency of ALDH1 positivity was higher for AA and Gh patients (32% and 36%, respectively) compared with WA and Eth patients (23% and 17%, respectively; P = .007). Significant differences were observed for distribution of androgen receptor positivity: 71%, 55%, 42%, and 50% for the WA, AA, Gh, and Eth patients, respectively ( P = .008). Conclusion Extent of African ancestry seems to be associated with particular breast cancer phenotypes. West African ancestry correlates with increased risk of TNBC and breast cancers that are positive for ALDH1.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef99be324c501ceac7221d24a763c4f1Test
http://europepmc.org/articles/PMC6818279Test

المؤلفون: Buchanan, D., Tan, Y., Walsh, M., Clendenning, M., Metcalf, A., Ferguson, K., Arnold, S., Thompson, B., Lose, F., Parsons, M., Walters, R., Pearson, S., Cummings, M., Oehler, M., Blomfield, P., Quinn, M., Kirk, J., Stewart, C., Obermair, A., Young, J.

المصدر: http://dx.doi.org/10.1200/jco.2013.51.2129Test.

مصطلحات موضوعية: Humans, Endometrial Neoplasms, DNA Repair Enzymes, Adaptor Proteins, Signal Transducing, DNA-Binding Proteins, Nuclear Proteins, Immunohistochemistry, Population Surveillance, Cohort Studies, DNA Methylation, Germ-Line Mutation, Adult, Aged, 80 and over, Middle Aged, Australia, Female, MutS Homolog 2 Protein, Adenosine Triphosphatases, DNA Mismatch Repair, Early Detection of Cancer, Genetic Testing, MutL Protein Homolog 1, Mismatch Repair Endonuclease PMS2

الوصف: not available ; Daniel D. Buchanan, Yen Y. Tan, Michael D. Walsh, Mark Clendenning, Alexander M. Metcalf, Kaltin Ferguson, Sven T. Arnold, Bryony A. Thompson, Felicity A. Lose, Michael T. Parsons, Rhiannon J. Walters, Sally-Ann Pearson, Margaret Cummings, Martin K. Oehler, Penelope B. Blomfield, Michael A. Quinn, Judy A. Kirk, Colin J. Stewart, Andreas Obermair, Joanne P. Young, Penelope M. Webb and Amanda B. Spurdle

العلاقة: http://purl.org/au-research/grants/nhmrc/339435Test; Journal of Clinical Oncology, 2014; 32(2):90-100; http://hdl.handle.net/2440/91150Test; Oehler, M. [0000-0002-2651-5913]; Young, J. [0000-0002-1514-1522]

الإتاحة: https://doi.org/10.1200/JCO.2013.51.2129Test
https://doi.org/10.1200/jco.2013.51.2129Test
http://hdl.handle.net/2440/91150Test

المؤلفون: Alexander M. Metcalf, Penelope Blomfield, Joanne P. Young, Felicity Lose, Michael A. Quinn, Michael Walsh, Mark Clendenning, Daniel D. Buchanan, Yen Y. Tan, Margaret C. Cummings, Colin J.R. Stewart, Sven Arnold, Penelope M. Webb, Kaltin Ferguson, Bryony A. Thompson, Martin K. Oehler, Andreas Obermair, Michael T. Parsons, Judy Kirk, Sally-Ann Pearson, Amanda B. Spurdle, Rhiannon J. Walters

مصطلحات موضوعية: Adult, Oncology, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, medicine.medical_specialty, Pathology, Population, Gynecologic oncology, Gene mutation, MLH1, DNA Mismatch Repair, Cohort Studies, Germline mutation, Internal medicine, medicine, Humans, Genetic Testing, education, Early Detection of Cancer, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Aged, Mismatch Repair Endonuclease PMS2, Adenosine Triphosphatases, Aged, 80 and over, education.field_of_study, business.industry, Endometrial cancer, Australia, Nuclear Proteins, Microsatellite instability, ORIGINAL REPORTS, DNA Methylation, Middle Aged, medicine.disease, Immunohistochemistry, digestive system diseases, Endometrial Neoplasms, DNA-Binding Proteins, DNA Repair Enzymes, MutS Homolog 2 Protein, Population Surveillance, Female, DNA mismatch repair, MutL Protein Homolog 1, business

الوصف: Purpose Clinicopathologic data from a population-based endometrial cancer cohort, unselected for age or family history, were analyzed to determine the optimal scheme for identification of patients with germline mismatch repair (MMR) gene mutations. Patients and Methods Endometrial cancers from 702 patients recruited into the Australian National Endometrial Cancer Study (ANECS) were tested for MMR protein expression using immunohistochemistry (IHC) and for MLH1 gene promoter methylation in MLH1-deficient cases. MMR mutation testing was performed on germline DNA of patients with MMR-protein deficient tumors. Prediction of germline mutation status was compared for combinations of tumor characteristics, age at diagnosis, and various clinical criteria (Amsterdam, Bethesda, Society of Gynecologic Oncology, ANECS). Results Tumor MMR-protein deficiency was detected in 170 (24%) of 702 cases. Germline testing of 158 MMR-deficient cases identified 22 truncating mutations (3% of all cases) and four unclassified variants. Tumor MLH1 methylation was detected in 99 (89%) of 111 cases demonstrating MLH1/PMS2 IHC loss; all were germline MLH1 mutation negative. A combination of MMR IHC plus MLH1 methylation testing in women younger than 60 years of age at diagnosis provided the highest positive predictive value for the identification of mutation carriers at 46% versus ≤ 41% for any other criteria considered. Conclusion Population-level identification of patients with MMR mutation-positive endometrial cancer is optimized by stepwise testing for tumor MMR IHC loss in patients younger than 60 years, tumor MLH1 methylation in individuals with MLH1 IHC loss, and germline mutations in patients exhibiting loss of MSH6, MSH2, or PMS2 or loss of MLH1/PMS2 with absence of MLH1 methylation.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d11f03088ae77f916edd8b1c8cf57c6Test
https://europepmc.org/articles/PMC4876359Test/