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1Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing
المؤلفون: Rachel Silva-Smith, Daniel A. Sussman
المصدر: Familial Cancer. 17:87-90
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Cancer Research, Colorectal cancer, DNA Mutational Analysis, Biology, Neoplasms, Multiple Primary, 03 medical and health sciences, 0302 clinical medicine, Neoplastic Syndromes, Hereditary, Genetics, medicine, PMS2, Humans, Genetic Predisposition to Disease, Juvenile polyposis syndrome, Genetic Testing, Bone Morphogenetic Protein Receptors, Type I, Genetics (clinical), Mismatch Repair Endonuclease PMS2, Genetic testing, medicine.diagnostic_test, Intestinal Polyposis, High-Throughput Nucleotide Sequencing, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, BMPR1A, Lynch syndrome, Human genetics, Pedigree, 030104 developmental biology, Urinary Bladder Neoplasms, Oncology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Female
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2
المؤلفون: Avi Saskin, Jocelyne Arseneau, Lawrence M. Roth, Anna Margiolaki, François Plourde, Janez Lamovec, Barbara Rivera, Rachel Silva-Smith, Steffen Albrecht, Reiner Siebert, Vassilis Georgoulias, Helen J. Mackay, Andrew Berchuck, William D. Foulkes, Emmanouil Saloustros, Jacek Majewski, W Glenn McCluggage, Sharon M. Castellino, Madeleine Arseneault, Kitty Pavlakis, Ester Castellsagué, Yasser Riazalhosseini, Somayyeh Fahiminiya, Nancy Hamel, Thomas M. Ulbright, Inga Nagel, Elizabeth A. Reilly, Frederick R. Ueland, Tracey A Bender, Mona Wu, Javad Nadaf, Blaise A. Clarke, David Grynspan, Eva Tomiak, Catherine Gilpin, Leora Witkowski, Colin J.R. Stewart, Michel Longy, Marc Tischkowitz, Rouzan G. Karabakhtsian, Martin Hasselblatt, Jian Carrot-Zhang
المصدر: Nature Genetics. 46:438-443
مصطلحات موضوعية: Genetics, Mutation, Somatic cell, Biology, medicine.disease, medicine.disease_cause, Germline, Germline mutation, Carcinoma, medicine, Allele, Ovarian cancer, Exome sequencing
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3
المؤلفون: Eva Tomiak, Nancy Hamel, Pedro Pinto, Erika Smith, Marc Tischkowitz, Luca Cavallone, Nelly Sabbaghian, Rachel Silva-Smith, William D. Foulkes, Olga Aleynikova, Valerie Hastings, Taila Hartley
المصدر: Hereditary Cancer in Clinical Practice
مصطلحات موضوعية: Oncology, BRCA1 and BRCA2 mutation-negative, medicine.medical_specialty, Genetic counseling, PALB2, Loss of heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, Medicine, Missense mutation, Family history, skin and connective tissue diseases, Melanoma, Genetics (clinical), Hereditary breast cancer, 030304 developmental biology, Gynecology, 0303 health sciences, business.industry, Research, Pancreatic cancer, medicine.disease, Penetrance, 3. Good health, 030220 oncology & carcinogenesis, business, Ovarian cancer