Cargando…

Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer

Hereditary breast cancer (BC) corresponds to 5% of all BC and a larger parcel of early-onset disease. The incorporation of next-generation sequencing (NGS) techniques reduced the cost of molecular testing and allowed the inclusion of additional cancer predisposition genes in panels that are more com...

Descripción completa

Detalles Bibliográficos
Autores principales:	Megid, Thais Baccili Cury, Barros-Filho, Mateus C., Pisani, Janina Pontes, Achatz, Maria Isabel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Oncology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393394/ https://www.ncbi.nlm.nih.gov/pubmed/36003761 http://dx.doi.org/10.3389/fonc.2022.873395

Ejemplares similares

Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants
por: Gifoni, Ana Carolina Leite Vieira Costa, et al.
Publicado: (2022)

Gastric Cancer: Molecular Mechanisms, Novel Targets, and Immunotherapies: From Bench to Clinical Therapeutics
por: Baccili Cury Megid, Thais, et al.
Publicado: (2023)

Novel Insights From the Germline Landscape of Breast Cancer in Brazil
por: Barbalho, Daniel, et al.
Publicado: (2022)

Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort
por: Tran, Van Thuan, et al.
Publicado: (2022)

Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers
por: Sandoval, Renata Lazari, et al.
Publicado: (2022)

Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis
por: Chen, Jianfan, et al.
Publicado: (2023)

Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation
por: Liu, Zhenxing, et al.
Publicado: (2023)

Response to anti-PD1 immunotherapy in patients with metastatic cutaneous sarcoma: case reports and literature review
por: Vieira, Aline Cristini, et al.
Publicado: (2020)

Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients
por: Grasel, Rebeca Silveira, et al.
Publicado: (2020)

Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts
por: Fu, Xian‐Guo, et al.
Publicado: (2019)

Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study
por: Ossa Gomez, Carlos Andrés, et al.
Publicado: (2022)

MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
por: Nohara, Fumikatsu, et al.
Publicado: (2022)

Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients
por: Côrtes, Luiza, et al.
Publicado: (2023)

A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next‐generation sequencing hereditary pan‐cancer panel are acquired somatically
por: Coffee, Bradford, et al.
Publicado: (2019)

Case of hereditary kidney disease presenting thin basement membrane with a single heterozygous variant of Intersectin 2
por: Kondo, Madoka, et al.
Publicado: (2023)

Insights Into the Pathogenicity of Rare Missense GCK Variants From the Identification and Functional Characterization of Compound Heterozygous and Double Mutations Inherited in Cis
por: Beer, Nicola L., et al.
Publicado: (2012)

Pathology of Hereditary Breast and Ovarian Cancer
por: Hodgson, Anjelica, et al.
Publicado: (2020)

Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family
por: Jin, Jie-Yuan, et al.
Publicado: (2020)

Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease
por: Xu, Sui-Yi, et al.
Publicado: (2023)

Education Case: Hereditary Thrombophilia With Double Heterozygous Factor V Leiden and Factor II c.*97G>A Mutations
por: Abukhiran, Ibrahim, et al.
Publicado: (2021)

The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent
por: Brovkina, Olga I., et al.
Publicado: (2018)

Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil
por: Achatz, Maria Isabel, et al.
Publicado: (2020)

Compound heterozygous pathogenic variants in the GALC gene cause infant-onset Krabbe disease
por: Zhang, Xiaoli, et al.
Publicado: (2021)

Incidence of Pathogenic Variants in Those With a Family History of Pancreatic Cancer
por: Macklin, Sarah K., et al.
Publicado: (2018)

Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report
por: Tung, Moon Ley, et al.
Publicado: (2022)

A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer
por: Soleimani, Tahereh, et al.
Publicado: (2023)

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis
por: Ma, Shiyue, et al.
Publicado: (2018)

Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes
por: Al-Shinnag, Mohammad, et al.
Publicado: (2021)

Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant
por: Li, Jun, et al.
Publicado: (2022)

New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies
por: Xie, Juan‐Juan, et al.
Publicado: (2019)

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy
por: Gerber, Sylvie, et al.
Publicado: (2023)

Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status
por: Marwitz, Tim, et al.
Publicado: (2020)

Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach
por: Oliver, Javier, et al.
Publicado: (2019)

Double Heterozygous Pathogenic Variants in the LOX and PKD1 Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease
por: Ponińska, Joanna Kinga, et al.
Publicado: (2023)

Acquired and hereditary bone marrow failure: A mitochondrial perspective
por: Nasr, Waseem, et al.
Publicado: (2022)

Severe Hypercalcemia Due to Primary Hyperparathyroidism and Heterozygous Pathogenic Variant of CYP24A1
por: Liu, Jannel, et al.
Publicado: (2023)

Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report
por: Chen, Xi, et al.
Publicado: (2023)

Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant
por: Ajiboye, Oyintayo, et al.
Publicado: (2023)

Co‐occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome
por: Ferrer‐Avargues, Rosario, et al.
Publicado: (2021)

A case report of adult juvenile polyposis syndrome with SMAD4 pathogenic variant
por: Liu, Yutong, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_q3p6sh6trqn11jho8ikoqfabqa