المؤلفون: Dorling, L., Kvist, A., Investigators, kConFab, Investigators, SGBCC, Easton, Douglas F.

المصدر: Genome Medicine. 14(1)

مصطلحات موضوعية: Breast cancer, Genetic epidemiology, Missense variants, Risk prediction, ATM protein, BRCA1 protein, BRCA2 protein, checkpoint kinase 2, partner and localizer of BRCA2, Article, ATM gene, breast cancer, cancer risk, cancer susceptibility, CHEK2 gene, computer model, controlled study, disease association, female, gene frequency, genetic algorithm, human, logistic regression analysis, major clinical study, missense mutation, PALB2 gene, prediction, protein domain, risk assessment, tumor suppressor gene, breast tumor, case control study, genetic predisposition, genetics, Breast Neoplasms, Case-Control Studies, Female, Genetic Predisposition to Disease, Humans, Mutation, Missense, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Medical and Health Sciences, Clinical Medicine, Cancer and Oncology, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/a73134dd-342e-4e4d-9614-bb2755518b85Test
http://dx.doi.org/10.1186/s13073-022-01052-8Test

المؤلفون: Ruberu, Thanthirige Lakshika M, Braun, Danielle, Parmigiani, Giovanni, Biswas, Swati

المصدر: Biometrics ; ISSN:1541-0420 ; Volume:80 ; Issue:2

مصطلحات موضوعية: ATM gene, PALB2 gene, ascertainment bias, odds ratio, relative risk

العلاقة: https://doi.org/10.1093/biomtc/ujae040Test; https://pubmed.ncbi.nlm.nih.gov/38819314Test

الإتاحة: https://doi.org/10.1093/biomtc/ujae040Test
https://pubmed.ncbi.nlm.nih.gov/38819314Test

المؤلفون: Manchanda, R, Patel, S, Gordeev, VS, Antoniou, AC, Smith, S, Lee, A, Hopper, JL, MacInnis, RJ, Turnbull, C, Ramus, SJ, Gayther, SA, Pharoah, PDP, Menon, U, Jacobs, I, Legood, R

المصدر: Journal of the National Cancer Institute , 110 (7) pp. 714-725. (2018)

مصطلحات موضوعية: mutation, cancer, cost effectiveness, brca1 protein, brca2 protein, brca1 gene, brca2 gene, life expectancy, quality-adjusted life years, mastectomy, breast cancer, brca2 mutation testing, sensitivity analysis, palb2 gene

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10041887/1/17-0764R2%20Manchanda_AB_RM-v1_FINALaccepted.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10041887Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10041887/1/17-0764R2%20Manchanda_AB_RM-v1_FINALaccepted.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10041887Test/

المؤلفون: Noshin Nawar, Ismail Hosen, Hamida Nooreen Mahmood, Hossain Uddin Shekhar, Ismail Faisal, Anik Paul

المصدر: Bioinformation

مصطلحات موضوعية: Untranslated region, in silico characterization, dbSNP, PALB2, In silico, Locus (genetics), Single-nucleotide polymorphism, General Medicine, Computational biology, Biology, PALB2 Gene, UTR, nsSNP, Genetic association, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e34c3da99e7aec5cb2459260b6c3ca35Test
http://europepmc.org/articles/PMC8131579Test

المؤلفون: Carlos Mendez-Dorantes, Felicia Wednesday Lopezcolorado, Jeremy M. Stark, Eva Jahanshir, Ragini Bhargava, Linda Jillianne Tsai

المصدر: Nucleic Acids Research

مصطلحات موضوعية: DNA End-Joining Repair, AcademicSubjects/SCI00010, Ubiquitin-Protein Ligases, PALB2, Cell Cycle Proteins, DNA-Directed DNA Polymerase, Genome Integrity, Repair and Replication, PALB2 Gene, Resection, 03 medical and health sciences, 0302 clinical medicine, INDEL Mutation, Protein Domains, Ubiquitin, RNA interference, Genetics, Humans, DNA Breaks, Double-Stranded, Ku Autoantigen, Sequence Deletion, 030304 developmental biology, Double strand, 0303 health sciences, biology, BRCA1 Protein, Nuclear Proteins, Recombinational DNA Repair, Chromosome Breakage, Cell biology, Ubiquitin ligase, DNA-Binding Proteins, biology.protein, RNA Interference, Rad51 Recombinase, Signal transduction, Fanconi Anemia Complementation Group N Protein, Tumor Suppressor p53-Binding Protein 1, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::644cb2b7cbb15e87474c52a9cc132484Test
https://doi.org/10.1093/nar/gkaa380Test

المؤلفون: Mònica Salvat, Bàrbara Roig, Lourdes Martorell, Montserrat Querol, Josep Gumà, Joan Borràs, Sara Serrano, Mireia Melé, Marta Rodríguez-Balada, Cinta Albacar

المصدر: Clinical Biochemistry. 76:17-23

مصطلحات موضوعية: Adult, 030213 general clinical medicine, DNA Repair, PALB2, Genes, BRCA2, Clinical Biochemistry, Population, Genes, BRCA1, Breast Neoplasms, 030204 cardiovascular system & hematology, Biology, PALB2 Gene, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, education, CHEK2, Gene, Germ-Line Mutation, Genetic testing, Ovarian Neoplasms, Genetics, education.field_of_study, BARD1 Gene, medicine.diagnostic_test, General Medicine, Middle Aged, High-Throughput Screening Assays, Rad50, Female, DNA Damage

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f0ecb7a9741aaa02ae82bdb3a8d9b77Test
https://doi.org/10.1016/j.clinbiochem.2019.11.014Test

المؤلفون: Ramus, SJ, Song, H, Dicks, E, Tyrer, JP, Rosenthal, AN, Intermaggio, MP, Fraser, L, Gentry-Maharaj, A, Hayward, J, Philpott, S, Anderson, C, Edlund, CK, Conti, D, Harrington, P, Barrowdale, D, Bowtell, DD, Alsop, K, Mitchell, G, Cicek, MS, Cunningham, JM, Fridley, BL, Alsop, J, Jimenez-Linan, M, Poblete, S, Lele, S, Sucheston-Campbell, L, Moysich, KB, Sieh, W, McGuire, V, Lester, J, Bogdanova, N, Duerst, M, Hillemanns, P, Odunsi, K, Whittemore, AS, Karlan, BY, Doerk, T, Goode, EL, Menon, U, Jacobs, IJ, Antoniou, AC, Pharoah, PDP, Gayther, SA

المصدر: JNCI: Journal of The National Cancer Institute , 107 (11) (2015)

مصطلحات موضوعية: Mutation, genes, germ-line mutation, ovarian cancer, bard1 gene, palb2 gene

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1488626/1/Fraser_BRIP1%20manuscript.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1488626/8/Fraser_BRIP1-Supplementary%20Tables.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1488626/14/Fraser_BRIP1%20Paper%20Figure%201.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1488626/23/Fraser_BRIP1-Tables.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1488626Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1488626/1/Fraser_BRIP1%20manuscript.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1488626/8/Fraser_BRIP1-Supplementary%20Tables.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1488626/14/Fraser_BRIP1%20Paper%20Figure%201.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1488626/23/Fraser_BRIP1-Tables.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1488626Test/

المؤلفون: Joanna Trubicka, Marcin Słojewski, Thierry van de Wetering, Michał Soczawa, A. Lemiński, Jan Lubinski, Dominika Wokołorczyk, Wojciech Kluźniak, Cezary Cybulski, Tadeusz Dębniak, Elżbieta Złowocka-Perłowska

المصدر: Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, Vol 19, Iss 1, Pp 1-5 (2021)

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, lcsh:QH426-470, Survival, PALB2, 509_510delGA, 172_175delTTGT mutation, medicine.disease_cause, lcsh:RC254-282, PALB2 Gene, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Cancer Family, Genetics (clinical), Kidney, business.industry, Research, Odds ratio, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, Human genetics, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Carcinogenesis, business, Kidney cancer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4848d2d259dd60dbba60244d3b8e888Test
https://doi.org/10.1186/s13053-020-00161-yTest

المؤلفون: Carmine De Angelis, Carmela Nardelli, Paola Concolino, Martina Pagliuca, Mario Setaro, Elisa De Paolis, Pietro De Placido, Valeria Forestieri, Giovanni Luca Scaglione, Annalisa Ranieri, Barbara Lombardo, Lucio Pastore, Sabino De Placido, Ettore Capoluongo

المساهمون: De Angelis, Carmine, Nardelli, Carmela, Concolino, Paola, Pagliuca, Martina, Setaro, Mario, De Paolis, Elisa, De Placido, Pietro, Forestieri, Valeria, Scaglione, Giovanni Luca, Ranieri, Annalisa, Lombardo, Barbara, Pastore, Lucio, De Placido, Sabino, Capoluongo, Ettore

المصدر: Frontiers in Oncology, Vol 11 (2021)
Frontiers in Oncology

مصطلحات موضوعية: Cancer Research, Mutation, breast-cancer risk, business.industry, PALB2, Case Report, hereditary breast cancer, medicine.disease, medicine.disease_cause, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, PALB2 Gene, lcsh:RC254-282, Germline, Exon, Breast cancer, Oncology, Cancer research, surveillance, Medicine, deletion, Family history, business, Homologous recombination, skin and connective tissue diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::383741af038850bdbc083ad0cbbc384fTest
http://hdl.handle.net/11588/840576Test

المؤلفون: Randal S. Weber, Diana Kaya, Renata Ferrarotto, Diana Bell, Ameer Hamza

المصدر: Annals of diagnostic pathology. 49

مصطلحات موضوعية: 0301 basic medicine, Adult, Pathology, medicine.medical_specialty, PALB2 Gene Mutation, Biology, Gene mutation, Adenocarcinoma, Pathology and Forensic Medicine, Fusion gene, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, medicine, Humans, von Ebner Glands, Intercalated duct, General Medicine, medicine.disease, Salivary Gland Neoplasms, Parotid gland, ETV6, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Mutation, Female, Fanconi Anemia Complementation Group N Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63e79cce605a97500fb6e368ae102c72Test
https://pubmed.ncbi.nlm.nih.gov/33069082Test