Cargando…

The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk

Detalles Bibliográficos
Autores principales:	Catucci, Irene, Radice, Paolo, Milne, Roger L., Couch, Fergus J., Southey, Melissa C., Peterlongo, Paolo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Letter
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5101669/ https://www.ncbi.nlm.nih.gov/pubmed/27829436 http://dx.doi.org/10.1186/s13058-016-0762-9

Ejemplares similares

Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction
por: Caleca, Laura, et al.
Publicado: (2018)

Phenotypic expression of the p.Leu1077Pro CFTR mutation in Sicilian cystic fibrosis patients
por: Parisi, Giuseppe Fabio, et al.
Publicado: (2013)

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations
por: Niel-Butschi, Florence, et al.
Publicado: (2011)

Interpreting the Mechanism of APOE (p.Leu167del) Mutation in the Incidence of Familial Hypercholesterolemia; An In-silico Approach
por: Rashidi, Omran Mohammed, et al.
Publicado: (2017)

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex
por: TU, Wei-Ting, et al.
Publicado: (2020)

Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations
por: Wang, Yangyang, et al.
Publicado: (2019)

PALB2 and breast cancer: ready for clinical translation!
por: Southey, Melissa C, et al.
Publicado: (2013)

Case Report: PROS1 (p.Leu584Arg) pathogenic mutation causes portal and superior mesenteric venous thromboembolism
por: Ding, Peng, et al.
Publicado: (2023)

Clinicopathological Features of Patients with the BRCA1 c.5339T>C (p.Leu1780Pro) Variant
por: Park, Hyung Seok, et al.
Publicado: (2020)

A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5
por: Yoshida, Kei, et al.
Publicado: (2021)

PMEL p.Leu18del dilutes coat color of Kumamoto sub-breed of Japanese Brown cattle
por: Kimura, Satoshi, et al.
Publicado: (2022)

PALB2: research reaching to clinical outcomes for women with breast cancer
por: Southey, Melissa C., et al.
Publicado: (2016)

Deterioration after Liver Transplantation and Transthyretin Stabilizer Administration in a Patient with ATTRv Amyloidosis with a Leu58Arg (p.Leu78Arg) TTR Variant
por: Hikishima, Sadao, et al.
Publicado: (2022)

A PALB2 mutation associated with high risk of breast cancer
por: Southey, Melissa C, et al.
Publicado: (2010)

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families
por: Teo, Zhi L, et al.
Publicado: (2013)

Juvenile interleukin-36 receptor antagonist deficiency (DITRA) with c.80T>C (p.Leu27Pro) mutation successfully treated with etanercept and acitretin
por: Cuperus, Edwin, et al.
Publicado: (2018)

A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile)
por: Tokuda, Naoki, et al.
Publicado: (2023)

Age and Origin of the Founder Antithrombin Budapest 3 (p.Leu131Phe) Mutation; Its High Prevalence in the Roma Population and Its Association With Cardiovascular Diseases
por: Bereczky, Zsuzsanna, et al.
Publicado: (2021)

Multimodal dynamic response of the Buchnera aphidicola pLeu plasmid to variations in leucine demand of its host, the pea aphid Acyrthosiphon pisum
por: Viñuelas, José, et al.
Publicado: (2011)

Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers
por: Hu, Zhe-Yu, et al.
Publicado: (2020)

A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis
por: Sultanova, Ardak K., et al.
Publicado: (2016)

Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases
por: Catucci, Irene, et al.
Publicado: (2012)

Association Between p.Leu54Met Polymorphism at the Paraoxonase-1 Gene and Plantar Fascia Thickness in Young Subjects With Type 1 Diabetes
por: Gallego, Patricia H., et al.
Publicado: (2008)

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2
por: Nguyen-Dumont, Tú, et al.
Publicado: (2013)

Enrichment of BTK Leu528Trp mutations in patients with CLL on zanubrutinib: potential for pirtobrutinib cross-resistance
por: Blombery, Piers, et al.
Publicado: (2022)

Homologous recombination DNA repair defects in PALB2-associated breast cancers
por: Li, Anqi, et al.
Publicado: (2019)

Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer
por: Peterlongo, Paolo, et al.
Publicado: (2021)

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec
por: Waters, Paula J., et al.
Publicado: (2019)

Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family
por: Gilis-Januszewska, Aleksandra, et al.
Publicado: (2021)

Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser))
por: Bulfamante, Gaetano Pietro, et al.
Publicado: (2021)

Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers
por: Li, Anqi, et al.
Publicado: (2019)

Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine
por: Myszka, Aleksander, et al.
Publicado: (2017)

Pathogenic variant c.1052T>A (p.Leu351Gln) in adenosine deaminase 2 impairs secretion and elevates type I IFN responsive gene expression
por: Bowers, Sarah M., et al.
Publicado: (2022)

Trp-574-Leu mutation in wild mustard (Sinapis arvensis L.) as a result of als inhibiting herbicide applications
por: Sin, Bahadir, et al.
Publicado: (2021)

Genetic interactions among Brca1, Brca2, Palb2, and Trp53 in mammary tumor development
por: Huo, Yanying, et al.
Publicado: (2021)

Tumour morphology predicts PALB2 germline mutation status
por: Teo, Z L, et al.
Publicado: (2013)

PALB2 mutations in German and Russian patients with bilateral breast cancer
por: Bogdanova, Natalia, et al.
Publicado: (2010)

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
por: Boonen, Rick A. C. M., et al.
Publicado: (2019)

The NOD2 p.Leu1007fsX1008 Mutation (rs2066847) Is a Stronger Predictor of the Clinical Course of Crohn's Disease than the FOXO3A Intron Variant rs12212067
por: Schnitzler, Fabian, et al.
Publicado: (2014)

New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2
por: Endres, Dominique, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_bepdgo855h0pppn22d69f1d6fc