Cargando…

Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers

Breast cancer (BC) is the most prevalent malignancy in women with Li-Fraumeni syndrome (LFS). The literature on BC in LFS is limited due to its rarity worldwide. A TP53 founder pathogenic variant (c.1010G>A; p.R337H) is responsible for the higher prevalence of this syndrome among women of Brazili...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sandoval, Renata Lazari, Polidorio, Natalia, Leite, Ana Carolina Rathsam, Cartaxo, Mariana, Pisani, Janina Pontes, Quirino, Carla Vanessa, Cezana, Loureno, Pereira, Natálya Gonçalves, Pereira, Allan Andresson Lima, Rossi, Benedito Mauro, 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/PMC8966034/ https://www.ncbi.nlm.nih.gov/pubmed/35371985 http://dx.doi.org/10.3389/fonc.2022.836937

Ejemplares similares

Identification of the TP53 p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni Syndrome
por: Sandoval, Renata Lazari, et al.
Publicado: (2021)

Cancer surveillance for patients with Li-Fraumeni Syndrome in Brazil: A cost-effectiveness analysis
por: Frankenthal, Isadora A., et al.
Publicado: (2022)

Prevalence of the TP53 p.R337H Mutation in Breast Cancer Patients in Brazil
por: Giacomazzi, Juliana, et al.
Publicado: (2014)

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)

Occurrence of Neuroblastoma among TP53 p.R337H Carriers
por: Seidinger, Ana Luiza, et al.
Publicado: (2015)

The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype
por: Ruijs, Marielle WG, et al.
Publicado: (2009)

Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
por: Frebourg, Thierry, et al.
Publicado: (2020)

Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation
por: Andrade, Kelvin C., et al.
Publicado: (2016)

Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility
por: Pinto, Emilia M., et al.
Publicado: (2023)

A Novel Variant in the TP53 Gene Causing Li–Fraumeni Syndrome
por: Papadimitriou, Dimitrios T., et al.
Publicado: (2023)

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)

(18)F-FDG PET-CT for Surveillance of Brazilian Patients with Li-Fraumeni Syndrome
por: Nogueira, Sonia Tereza Santos, et al.
Publicado: (2015)

Li-Fraumeni Syndrome
por: Vogel, Wendy H.
Publicado: (2017)

Increased Oxidative Damage in Carriers of the Germline TP53 p.R337H Mutation
por: Macedo, Gabriel S., et al.
Publicado: (2012)

Genomic alterations associated with loss of heterozygosity for TP53 in Li-Fraumeni syndrome fibroblasts
por: Burt, E C, et al.
Publicado: (2000)

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

A novel TP53 tandem duplication in a child with Li–Fraumeni syndrome
por: Xu, Feng, et al.
Publicado: (2022)

A novel germline mutation of TP53 with breast cancer diagnosed as Li–Fraumeni syndrome
por: Kai, Masaya, et al.
Publicado: (2022)

TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families
por: Cury, Nathalia M, et al.
Publicado: (2014)

Chromosome instability in fibroblasts derived from Li–Fraumeni syndrome families without TP53 mutations
por: Boyle, J M, et al.
Publicado: (2000)

Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts
por: Haque, Mohammed Moquitul, et al.
Publicado: (2018)

Hematologic malignancies and Li–Fraumeni syndrome
por: Swaminathan, Mahesh, et al.
Publicado: (2019)

What 20 years of research has taught us about the TP53 p.R337H mutation
por: Pinto, Emilia Modolo, et al.
Publicado: (2020)

Environmental Contaminants Modulate Breast Cancer Development and Outcome in TP53 p.R337H Carriers and Noncarriers
por: Gerber, Viviane K. Q., et al.
Publicado: (2022)

A new therapeutic basis for treating Li-Fraumeni Syndrome breast tumors expressing mutated TP53
por: Glazer, Robert I.
Publicado: (2010)

TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome
por: Ribi, Sebastian, et al.
Publicado: (2015)

Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family
por: AlHarbi, Musa, et al.
Publicado: (2018)

Cancer spectrum in TP53-deficient golden Syrian hamsters: A new model for Li-Fraumeni syndrome
por: Miao, Jinxin, et al.
Publicado: (2021)

TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes
por: da Silva, Paula Francinete Faustino, et al.
Publicado: (2022)

Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion
por: Silva, Amanda Gonçalves, et al.
Publicado: (2012)

The first documentation of Li-Fraumeni syndrome in Korea.
por: Bang, Y. J., et al.
Publicado: (1995)

Pediatric Case of Li–Fraumeni Syndrome in Honduras
por: Martínez-Beckerat, R., et al.
Publicado: (2021)

Inhibiting the Priming for Cancer in Li-Fraumeni Syndrome
por: Pantziarka, Pan, et al.
Publicado: (2022)

A Case of Li-Fraumeni Associated Thymoma
por: Sivayoganathan, Thibacg, et al.
Publicado: (2022)

Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H inTP53
por: Fitarelli-Kiehl, Mariana, et al.
Publicado: (2016)

Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p
por: Paskulin, Diego Davila, et al.
Publicado: (2015)

The Brazilian TP53 mutation (R337H) and sarcomas
por: Volc, Sahlua Miguel, et al.
Publicado: (2020)

Radiation-induced G(1) arrest is not defective in fibroblasts from Li-Fraumeni families without TP53 mutations
por: Boyle, J M, et al.
Publicado: (1999)

Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome
por: Taja-Chayeb, Lucia, et al.
Publicado: (2009)

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families
por: Calvete, Oriol, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_sm1arg533ta4c6l955es71uhbp