Cargando…

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene

BACKGROUND: Gene panel testing has become the norm for assessing breast cancer (BC) susceptibility, but actual cancer risks conferred by genes included in panels are not established. Contrarily, deciphering the missing hereditability on BC, through identification of novel candidates, remains a chall...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fostira, Florentia, Kostantopoulou, Irene, Apostolou, Paraskevi, Papamentzelopoulou, Myrto S, Papadimitriou, Christos, Faliakou, Eleni, Christodoulou, Christos, Boukovinas, Ioannis, Razis, Evangelia, Tryfonopoulos, Dimitrios, Barbounis, Vasileios, Vagena, Andromache, Vlachos, Ioannis S, Kalfakakou, Despoina, Fountzilas, George, Yannoukakos, Drakoulis
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2020
Materias:	Cancer Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929701/ https://www.ncbi.nlm.nih.gov/pubmed/31300551 http://dx.doi.org/10.1136/jmedgenet-2019-106189

Ejemplares similares

CHEK2 Pathogenic Variants in Greek Breast Cancer Patients: Evidence for Strong Associations with Estrogen Receptor Positivity, Overuse of Risk-Reducing Procedures and Population Founder Effects
por: Apostolou, Paraskevi, et al.
Publicado: (2021)

Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families
por: Thodi, Georgia, et al.
Publicado: (2010)

Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients
por: Fostira, Florentia, et al.
Publicado: (2010)

Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases
por: Stavropoulou, Alexandra V., et al.
Publicado: (2013)

Correction: Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases
por: Stavropoulou, Alexandra V., et al.
Publicado: (2013)

Hereditary Breast Cancer: The Era of New Susceptibility Genes
por: Apostolou, Paraskevi, et al.
Publicado: (2013)

Neoadjuvant treatment in ovarian cancer: New perspectives, new challenges
por: Nikolaidi, Adamantia, et al.
Publicado: (2022)

Current practices on genetic testing in ovarian cancer
por: Fostira, Florentia, et al.
Publicado: (2020)

MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model
por: Karalidou, Vasiliki, et al.
Publicado: (2022)

A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype
por: Fostira, Florentia, et al.
Publicado: (2014)

A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM Mutation
por: Nikolaidi, Adamantia, et al.
Publicado: (2019)

Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece
por: Avgeris, Socratis, et al.
Publicado: (2017)

Association of Tumor Necrosis Factor-α -308G>A, -238G>A and -376G>A polymorphisms with recurrent pregnancy loss risk in the Greek population
por: Stavros, Sofoklis, et al.
Publicado: (2021)

Lung cancer as a predominant feature in a patient with Peutz–Jeghers syndrome: Case report
por: Fostira, Florentia, et al.
Publicado: (2022)

Pattern of Smoking Habit among Greek Blue and White Collar Workers
por: Rachiotis, George, et al.
Publicado: (2009)

Hospital Anxiety and Depression Scale (HADS): validation in a Greek general hospital sample
por: Michopoulos, Ioannis, et al.
Publicado: (2008)

Watch Out for Burnout in COVID-19: A Greek Health Care Personnel Study
por: Mavrovounis, Georgios, et al.
Publicado: (2022)

Bacterial Endotoxins and their Impact on Respiratory System among Greek Cotton Industry Workers
por: Anyfantis, Ioannis D, et al.
Publicado: (2017)

Hypothesis, analysis and synthesis, it's all Greek to me
por: Iliopoulos, Ioannis, et al.
Publicado: (2019)

The 13 item Family Support Scale: Reliability and validity of the Greek translation in a sample of Greek health care professionals
por: Tselebis, Athanasios, et al.
Publicado: (2011)

Quality of life in mentally ill, physically ill and healthy individuals: The validation of the Greek version of the World Health Organization Quality of Life (WHOQOL-100) questionnaire
por: Ginieri-Coccossis, Maria, et al.
Publicado: (2009)

Adjusting Breast Cancer Patient Prognosis with Non-HER2-Gene Patterns on Chromosome 17
por: Kotoula, Vassiliki, et al.
Publicado: (2014)

Respiratory Symptoms and Lung Function among Greek Cotton Industry Workers: A Cross-Sectional Study
por: Anyfantis, Ioannis D, et al.
Publicado: (2017)

Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases
por: Armaou, S, et al.
Publicado: (2009)

Psychometric properties of the Metacognitions Questionnaire-30 (MCQ-30) in a Greek sample
por: Typaldou, Maria, et al.
Publicado: (2010)

Alexithymia and its association with burnout, depression and family support among Greek nursing staff
por: Bratis, Dionisios, et al.
Publicado: (2009)

MOBP rs616147 Polymorphism and Risk of Amyotrophic Lateral Sclerosis in a Greek Population: A Case-Control Study
por: Liampas, Ioannis, et al.
Publicado: (2021)

A Linear Waxy Verrucous Plaque of the Scalp
por: Kakagia, Despoina D, et al.
Publicado: (2023)

Phlebotomine sand flies (Diptera: Psychodidae) in the Greek Aegean Islands: ecological approaches
por: Tsirigotakis, Nikolaos, et al.
Publicado: (2018)

The Greek Collaborative Long COVID Study: Non-Hospitalized and Hospitalized Patients Share Similar Symptom Patterns
por: Katsarou, Martha-Spyridoula, et al.
Publicado: (2022)

Prognostic implications of mismatch repair deficiency in patients with nonmetastatic colorectal and endometrial cancer
por: Fountzilas, Elena, et al.
Publicado: (2019)

Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients
por: Mihalatos, Markos, et al.
Publicado: (2005)

Dose-dense sequential adjuvant chemotherapy followed, as indicated, by trastuzumab for one year in patients with early breast cancer: first report at 5-year median follow-up of a Hellenic Cooperative Oncology Group randomized phase III trial
por: Fountzilas, George, et al.
Publicado: (2014)

Greek reflections on global neurosurgery
por: Tzerefos, Christos, et al.
Publicado: (2023)

The Alcohol Use Disorders Identification Test (AUDIT): reliability and validity of the Greek version
por: Moussas, George, et al.
Publicado: (2009)

Asymptomatic Gastric Giant Polyp in a Boy with Peutz-Jeghers Syndrome Presented with Multiple Café Au Lait Traits
por: Plataras, Christos, et al.
Publicado: (2018)

Low bone mineral density in Greek patients with inflammatory bowel disease: prevalence and risk factors
por: Koutroubakis, Ioannis E., et al.
Publicado: (2011)

Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer
por: Belogianni, Ioulia, et al.
Publicado: (2004)

Tumor Genotyping and Homologous Recombination Repair Gene Variants in Patients With Epithelial Ovarian Cancer: Is Pathogenic Enough?
por: Fountzilas, Elena, et al.
Publicado: (2021)

Quality of life and psychosocial aspects in Greek patients with psoriasis: a cross-sectional study
por: Kouris, Anargyros, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_4vn04emfdol0jtiuoi2dr16b7n