Cargando…

Intronic TP53 Germline Sequence Variants Modify the Risk in German Breast/Ovarian Cancer Families

To establish the contribution of TP53 germline mutations to familial breast/ovarian cancer in Germany we screened the complete coding region of the TP53 gene in a series of German breast/ovarian cancer families negative for mutations in the BRCA1 and BRCA2 genes. Two different intronic TP53 sequence...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Xuan, Sinn, Hans-Peter, Ulmer, Hans Ulrich, Scott, Rodney J, Hamann, Ute
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2004
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392522/ https://www.ncbi.nlm.nih.gov/pubmed/20233468 http://dx.doi.org/10.1186/1897-4287-2-3-139

Ejemplares similares

TP53 intron 6 polymorphism and the risk of ovarian and breast cancer.
por: Mavridou, D., et al.
Publicado: (1998)

Emerging insights into ethnic-specific TP53 germline variants
por: Fischer, Nicholas W, et al.
Publicado: (2023)

Somatic TP53 variants frequently confound germline testing results
por: Weitzel, Jeffrey N., et al.
Publicado: (2017)

Blood functional assay for rapid clinical interpretation of germline TP53 variants
por: Raad, Sabine, et al.
Publicado: (2021)

Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population
por: Rogoża-Janiszewska, Emilia, et al.
Publicado: (2020)

Germline mutation in the TP53 gene in uveal melanoma
por: Hajkova, Nikola, et al.
Publicado: (2018)

Intronic TP53 Polymorphisms Are Associated with Increased Δ133TP53 Transcript, Immune Infiltration and Cancer Risk
por: Eiholzer, Ramona A., et al.
Publicado: (2020)

Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53
por: Omran, Meis, et al.
Publicado: (2020)

Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations
por: Wang-Gohrke, S, et al.
Publicado: (1999)

Prostate Cancer Risk Is not Altered by TP53AIP1 Germline Mutations in a German Case-Control Series
por: Luedeke, Manuel, et al.
Publicado: (2012)

Germline TP53 mutations in Finnish breast cancer patients
por: Rapakko, K, et al.
Publicado: (2000)

Number of rare germline CNVs and TP53 mutation types
por: Silva, Amanda G, et al.
Publicado: (2012)

Clinical implications of germline mutations in breast cancer: TP53
por: Schon, Katherine, et al.
Publicado: (2017)

TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge
por: Grill, Sabine, et al.
Publicado: (2020)

Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis
por: Kratz, Christian P., et al.
Publicado: (2021)

Somatic intronic TP53 c.375+5G mutations are a recurrent but under‐recognized mode of TP53 inactivation
por: Chui, M Herman, et al.
Publicado: (2021)

Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants
por: de Andrade, Kelvin C., et al.
Publicado: (2023)

Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre
por: Butz, Henriett, et al.
Publicado: (2023)

Germline TP53 mutational spectrum in French Canadians with breast cancer
por: Arcand, Suzanna L, et al.
Publicado: (2015)

Germline TP53 Testing in Breast Cancers: Why, When and How?
por: Evans, D. Gareth, et al.
Publicado: (2020)

Choroid Plexus Carcinomas With TP53 Germline Mutations: Management and Outcome
por: Li, Yanong, et al.
Publicado: (2021)

TP53 germline pathogenic variants in modern humans were likely originated during recent human history
por: Kou, Si Hoi, et al.
Publicado: (2023)

Intronic SNPs of TP53 gene in chronic myeloid leukemia: Impact on drug response
por: Sailaja, K., et al.
Publicado: (2012)

Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study)
por: Packwood, Kate, et al.
Publicado: (2019)

Inherited and de novo germline TP53 mutations in adult-onset sarcoma
por: Thomas, David M, et al.
Publicado: (2012)

Inherited and de novo germline TP53 mutations in adult-onset sarcoma
por: Thomas, DM, et al.
Publicado: (2012)

Modeling the prevalent germline TP53 R337H mutation in mouse
por: Park, Ji-Hoon, et al.
Publicado: (2019)

Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome
por: Paduano, Francesco, et al.
Publicado: (2021)

Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors
por: van de Beek, Irma, et al.
Publicado: (2022)

Association of intron microsatellite status and exon mutational profiles of TP53 in human colorectal cancer
por: Liu, Xin, et al.
Publicado: (2019)

Germline mutations in apoptosis pathway genes in ovarian cancer; the functional role of a TP53I3 (PIG3) variant in ROS production and DNA repair
por: Chaudhry, Sophia R., et al.
Publicado: (2021)

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome
por: Chen, Hannah Jinlian, et al.
Publicado: (2017)

The Consequence of Oncomorphic TP53 Mutations in Ovarian Cancer
por: Brachova, Pavla, et al.
Publicado: (2013)

Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome
por: Park, Kyoung-Jin, et al.
Publicado: (2016)

The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations
por: Silva, Amanda G, et al.
Publicado: (2014)

Simultaneous Occurrence of Germline Pathogenic Allele Variants of TMEM127 and TP53 in a Brazilian Family With Li-Fraumeni Syndrome
por: Lima, Jose Viana, et al.
Publicado: (2021)

Suspected Germline TP53 Variants and Clonal Hematopoiesis of Indeterminate Potential: Lessons Learned From a Molecular Tumor Board
por: Xavier, Camila B, et al.
Publicado: (2023)

FRI256 The Clinical Impacts Of Bi-allelic Germline Pathogenic Variant In TP53 In Two Patients With Li-Fraumeni Syndrome
por: Petry, Vanessa, et al.
Publicado: (2023)

Effects of MDM2, MDM4 and TP53 Codon 72 Polymorphisms on Cancer Risk in a Cohort Study of Carriers of TP53 Germline Mutations
por: Fang, Shenying, et al.
Publicado: (2010)

Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability
por: Tam, Benjamin, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_tdtjiuo6lkc6is03pk7807nb6a