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BMC MEDICAL GENETICS, ISSN 1471-2350, 09/2019, Volume 20, Issue 1, pp. 154 - 3
Background Unique pathogenic mutations in BRCA1 and 2 genes have been reported in different populations of patients originating from the Middle East region.... 
Middle East | 185DELAG | GENETICS & HEREDITY | Breast cancer | Iraq | BRCA1 | OVARIAN-CANCER | BRCA2 | FOUNDER MUTATIONS | Studies | BRCA2 protein | BRCA1 protein | Risk groups | Breast | Population studies | Mutation | Genetic screening | Ovarian cancer
Journal Article
Pediatric hematology and oncology, 08/2019, p. 1
Monosomy 7 is an indicator of malignant transformation in patients with different subtypes of severe congenital neutropenias (SCNs). We present the case of a... 
Journal Article
Journal Article
Clinical Breast Cancer, ISSN 1526-8209, 10/2019, Volume 19, Issue 5, pp. 340 - 344
Although normal epithelial cells do not show human epidermal growth factor receptor-2 ( ) gene amplification and should lack membrane staining by... 
Normal breast epithelium | HER2 gene amplification | ASCO/CAP recommendations | Fluorescent in-situ hybridization | False positive HER2 | Stains and staining (Microscopy) | Usage | Diagnostic immunohistochemistry | Analysis | Methods
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2013, Volume 21, Issue 7, pp. 762 - 768
Journal Article
Cancer Genetics, ISSN 2210-7762, 02/2019, Volume 231-232, pp. 32 - 35
and associated pathogenic variants are the major cause of familial cases of early onset breast and ovarian cancers. Here we report two novel heterozygous... 
Pleiotropy | Breast cancer | Novel pathogenic variants | BRCA2 | Ovarian cancer | RISKS | HEREDITARY BREAST | BREAST-CANCER | FORK DEGRADATION | REPAIR | ONCOLOGY | PATHWAY | GENETICS & HEREDITY | OVARIAN | MUTATIONS | Proteins | Family | Codon | Gene mutations | Medical genetics
Journal Article
Molecular Biology Reports, ISSN 0301-4851, 10/2019
Journal Article
Pediatric Hematology and Oncology, ISSN 0888-0018, 10/2019, Volume 36, Issue 7, pp. 432 - 437
Monosomy 7 is an indicator of malignant transformation in patients with different subtypes of severe congenital neutropenias (SCNs). We present the case of a... 
monosomy 7 | karyotype | severe congenital neutropenia | Fluorescence in situ hybridization | TRANSLOCATIONS | MONOSOMY-7 | CLASSIFICATION | MYELODYSPLASTIC SYNDROME | ALPHA-SATELLITE DNA | ONCOLOGY | FISH | PEDIATRICS | LEUKEMIA | HEMATOLOGY | DELETIONS
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2019, Volume 27, Issue 4, pp. 525 - 534
Journal Article
Annals of Thoracic Medicine, ISSN 1817-1737, 10/2017, Volume 12, Issue 4, pp. 290 - 293
Journal Article
Hereditary Cancer in Clinical Practice, ISSN 1731-2302, 01/2019, Volume 17, Issue 1, pp. 4 - 7
BackgroundPrevious studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the... 
Lebanon | Manchester score | BRCA1 | BRCA2 | Familial | WOMEN | ONCOLOGY | BREAST-CANCER PATIENTS | Usage | Breast cancer | Diagnosis | Research | BRCA mutations | Genetic screening | Literature reviews | Risk groups | BRCA1 protein | Mutation | Health risk assessment | Ovarian cancer
Journal Article
by Parsons, Michael T and Tudini, Emma and Li, Hongyan and Hahnen, Eric and Wappenschmidt, Barbara and Feliubadaló, Lidia and Aalfs, Cora M and Agata, Simona and Aittomäki, Kristiina and Alducci, Elisa and Alonso‐Cerezo, María Concepción and Arnold, Norbert and Auber, Bernd and Austin, Rachel and Azzollini, Jacopo and Balmaña, Judith and Barbieri, Elena and Bartram, Claus R and Blanco, Ana and Blümcke, Britta and Bonache, Sandra and Bonanni, Bernardo and Borg, Åke and Bortesi, Beatrice and Brunet, Joan and Bruzzone, Carla and Bucksch, Karolin and Cagnoli, Giulia and Caldés, Trinidad and Caliebe, Almuth and Caligo, Maria A and Calvello, Mariarosaria and Capone, Gabriele L and Caputo, Sandrine M and Carnevali, Ileana and Carrasco, Estela and Caux‐Moncoutier, Virginie and Cavalli, Pietro and Cini, Giulia and Clarke, Edward M and Concolino, Paola and Cops, Elisa J and Cortesi, Laura and Couch, Fergus J and Darder, Esther and Hoya, Miguel and Dean, Michael and Debatin, Irmgard and Del Valle, Jesús and Delnatte, Capucine and Derive, Nicolas and Diez, Orland and Ditsch, Nina and Domchek, Susan M and Dutrannoy, Véronique and Eccles, Diana M and Ehrencrona, Hans and Enders, Ute and Evans, D. Gareth and Farra, Chantal and Faust, Ulrike and Felbor, Ute and Feroce, Irene and Fine, Miriam and Foulkes, William D and Galvao, Henrique C.R and Gambino, Gaetana and Gehrig, Andrea and Gensini, Francesca and Gerdes, Anne‐Marie and Germani, Aldo and Giesecke, Jutta and Gismondi, Viviana and Gómez, Carolina and Garcia, Encarna B and González, Sara and Grau, Elia and Grill, Sabine and Gross, Eva and Guerrieri‐Gonzaga, Aliana and Guillaud‐Bataille, Marine and Gutiérrez‐Enríquez, Sara and Haaf, Thomas and Hackmann, Karl and Hansen, Thomas V.O and Harris, Marion and Hauke, Jan and Heinrich, Tilman and Hellebrand, Heide and Herold, Karen N and Honisch, Ellen and Horvath, Judit and Houdayer, Claude and Hübbel, Verena and Iglesias, Silvia and Izquierdo, Angel and James, Paul A and Janssen, Linda A.M and Jeschke, Udo and Kaulfuß, Silke and ... and KConFab Investigators
Human Mutation, ISSN 1059-7794, 09/2019, Volume 40, Issue 9, pp. 1557 - 1578
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes.... 
uncertain significance | clinical | quantitative | variant | multifactorial | BRCA1 | BRCA2 | classification | RISKS | GUIDELINES | SEQUENCE VARIANTS | SPLICING ANALYSIS | INTEGRATED EVALUATION | BREAST-CANCER | FUNCTIONAL ASSAYS | GENETICS & HEREDITY | CLINGEN | OVARIAN | RNA | Segregation | BRCA2 protein | Pathogenicity | Splicing | AMP | BRCA1 protein | Classification | Breast cancer | mRNA | Life Sciences | Human health and pathology | Special
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2013, Volume 161, Issue 6, pp. 1354 - 1369
Journal Article
Meta Gene, ISSN 2214-5400, 10/2019, p. 100616
Journal Article
Journal Article