Cargando…

Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility

TINF2 is a critical subunit of the shelterin complex, which protects and maintains the length of telomeres. Pathogenic missense and truncating TINF2 mutations are causative for dyskeratosis congenita (DC), a rare, dominantly inherited bone marrow failure syndrome characterized by mucocutaneous abnor...

Descripción completa

Detalles Bibliográficos
Autores principales:	Koivuluoma, Susanna, Vorimo, Sandra, Mattila, Tiina M., Tervasmäki, Anna, Kumpula, Timo, Kuismin, Outi, Winqvist, Robert, Moilanen, Jukka, Mantere, Tuomo, Pylkäs, Katri
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Netherlands 2022
Materias:	Short Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829577/ https://www.ncbi.nlm.nih.gov/pubmed/35590014 http://dx.doi.org/10.1007/s10689-022-00295-z

Ejemplares similares

Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition
por: Kumpula, Timo A., et al.
Publicado: (2023)

Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility
por: Kumpula, Timo A., et al.
Publicado: (2023)

Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition
por: Koivuluoma, Susanna, et al.
Publicado: (2019)

Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition
por: Kumpula, Timo, et al.
Publicado: (2020)

Optical Genome Mapping as an Alternative to FISH-Based Cytogenetic Assessment in Chronic Lymphocytic Leukemia
por: Valkama, Andriana, et al.
Publicado: (2023)

Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly
por: Tervasmäki, Anna, et al.
Publicado: (2019)

Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility
por: Mantere, Tuomo, et al.
Publicado: (2016)

Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2
por: Hu, Yafang, et al.
Publicado: (2013)

ATM c.7570G>C is a high‐risk allele for breast cancer
por: Kankuri‐Tammilehto, Minna, et al.
Publicado: (2022)

Recurrent CYP2C19 deletion allele is associated with triple-negative breast cancer
por: Tervasmäki, Anna, et al.
Publicado: (2014)

Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt–Jakob disease
por: Bagyinszky, Eva, et al.
Publicado: (2019)

Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families
por: Haanpää, Maria, et al.
Publicado: (2013)

Case analysis of early-onset Alzheimer's disease associated with TBK1 p.Tyr235Phe gene mutation
por: Li, Pan, et al.
Publicado: (2022)

Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility
por: Mantere, Tuomo, et al.
Publicado: (2017)

A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe)
por: Moon, Jung Eun, et al.
Publicado: (2021)

Congenital factor V deficiency in Taiwan: identification of a novel variant p.Tyr1813(∗) and two variants specific to East Asians
por: Lin, Hsuan-Yu, et al.
Publicado: (2023)

Dramatic inhibition of osteoclast sealing ring formation and bone resorption in vitro by a WASP-peptide containing pTyr294 amino acid
por: Ma, Tao, et al.
Publicado: (2008)

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)
por: Skorczyk-Werner, Anna, et al.
Publicado: (2015)

FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome
por: Kiiski, Johanna I., et al.
Publicado: (2016)

FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population
por: Kiiski, Johanna I., et al.
Publicado: (2017)

pTyr(421) Cortactin Is Overexpressed in Colon Cancer and Is Dephosphorylated by Curcumin: Involvement of Non-Receptor Type 1 Protein Tyrosine Phosphatase (PTPN1)
por: Radhakrishnan, Vijayababu M., et al.
Publicado: (2014)

17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports
por: Zhang, Dai, et al.
Publicado: (2021)

A de novo Non-sense Nuclear Factor I B Mutation (p.Tyr290*) Is Responsible for Brain Malformation and Lung Lobulation Defects
por: Huang, Hao, et al.
Publicado: (2022)

Ocular Manifestations in a Chinese Pedigree of Familial Amyloidotic Polyneuropathy Carrying the Transthyretin Mutation c.401A>G (p.Tyr134Cys)
por: Zhuang, Xiaonan, et al.
Publicado: (2022)

The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate
por: AlAnazi, AlNashmi, et al.
Publicado: (2017)

A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non-syndromic deafness 2A
por: Li, Qiong, et al.
Publicado: (2021)

Mutation screening of the RNF8, UBC13 and MMS2 genes in Northern Finnish breast cancer families
por: Vuorela, Mikko, et al.
Publicado: (2011)

TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis
por: Hoffman, T. W., et al.
Publicado: (2016)

Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita
por: Panichareon, Benjaporn, et al.
Publicado: (2015)

TINF2 is a haploinsufficient tumor suppressor that limits telomere length
por: Schmutz, Isabelle, et al.
Publicado: (2020)

Ter Die
Publicado: (1896)

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
por: Rahikkala, Elisa, et al.
Publicado: (2022)

Errata in No. 312
Publicado: (1825)

Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families
por: Pylkäs, Katri, et al.
Publicado: (2008)

Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant
por: Chianucci, Benedetta, et al.
Publicado: (2022)

TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma
por: Jensen, Marlene Richter, et al.
Publicado: (2023)

Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita
por: Choo, Seunga, et al.
Publicado: (2022)

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report
por: Szczawińska-Popłonyk, Aleksandra, et al.
Publicado: (2023)

Mutation analysis of the AATF gene in breast cancer families
por: Haanpää, Maria, et al.
Publicado: (2009)

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context
por: Thompson, Ella R., et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_7ejaeane6f632h98ojs4uoavnv