Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome (Q38202612)

30 August 2017

title

Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome (English)

1 reference

30 August 2017

Junne Kamihara

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24706533 AND SRC:MED&resulttype=core&format=json

13 June 2020

publication date

1 June 2014

1 reference

30 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24706533 AND SRC:MED&resulttype=core&format=json

13 June 2020

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24706533 AND SRC:MED&resulttype=core&format=json

13 June 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24706533 AND SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

654-662

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24706533 AND SRC:MED&resulttype=core&format=json

Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?

13 June 2020

cites work

1 reference

The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

21 January 2018

1 reference

Association of the germline TP53 R337H mutation with breast cancer in southern Brazil

21 January 2018

1 reference

Relative frequency and morphology of cancers in carriers of germline TP53 mutations

21 January 2018

1 reference

A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans

21 January 2018

1 reference

Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome

21 January 2018

1 reference

Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil

21 January 2018

1 reference

Sensitivity and predictive value of criteria for p53 germline mutation screening

21 January 2018

1 reference

Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer

21 January 2018

1 reference

TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families.

21 January 2018

1 reference

Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors

21 January 2018

1 reference

A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer

21 January 2018

1 reference

Multiplex Genetic Testing for Cancer Susceptibility: Out on the High Wire Without a Net?

21 January 2018

1 reference

BRCA2: a cause of Li-Fraumeni-like syndrome

21 January 2018

1 reference

Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.

21 January 2018

1 reference

A TP53 polymorphism is associated with increased risk of colorectal cancer and with reduced levels of TP53 mRNA.

21 January 2018

1 reference

Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil

21 January 2018

1 reference

Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations

21 January 2018

1 reference

Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers

21 January 2018

1 reference

Multiple Primary Cancers in Families With Li-Fraumeni Syndrome

21 January 2018

1 reference

The genomic landscape of hypodiploid acute lymphoblastic leukemia

21 January 2018

1 reference

Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk

21 January 2018

1 reference

BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives

21 January 2018

1 reference

Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences

21 January 2018

1 reference

Regular surveillance for Li-Fraumeni Syndrome: advice, adherence and perceived benefits

21 January 2018

1 reference

The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis.

21 January 2018

1 reference

Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?

21 January 2018

1 reference

Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma

21 January 2018

1 reference

Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium

21 January 2018

1 reference

Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms

21 January 2018

1 reference

Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort

21 January 2018

1 reference

F18-fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome.

21 January 2018

1 reference

Routine TP53 testing for breast cancer under age 30: ready for prime time?

21 January 2018

1 reference

Early onset HER2‐positive breast cancer is associated with germline TP53 mutations

21 January 2018

1 reference

Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study

21 January 2018

1 reference

The IARC TP53 database: new online mutation analysis and recommendations to users

21 January 2018

1 reference

TP53 mutations in human cancers: origins, consequences, and clinical use

21 January 2018

1 reference

Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database

21 January 2018

1 reference

Prevalence of germline TP53 mutations in HER2 breast cancer patients

21 January 2018

1 reference

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

21 January 2018

1 reference

Preimplantation genetic diagnosis for cancer predisposition

21 January 2018

1 reference

An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma

21 January 2018

1 reference

A meta-analysis of cancer risk associated with the TP53 intron 3 duplication polymorphism (rs17878362): geographic and tumor-specific effects.

21 January 2018

1 reference

Age at cancer onset in germline TP53 mutation carriers: association with polymorphisms in predicted G-quadruplex structures

21 January 2018

1 reference

Update on pediatric cancer predisposition syndromes

21 January 2018

1 reference

Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms.

21 January 2018

1 reference

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

21 January 2018

1 reference

Number of rare germline CNVs and TP53 mutation types

21 January 2018

1 reference

Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

21 January 2018

1 reference

Adjuvant trastuzumab in HER2-positive breast cancer

21 January 2018

1 reference

Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome : current status of clinical applications and future directions

21 January 2018

1 reference

Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome

21 January 2018

1 reference

Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome.

21 January 2018

1 reference

Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome?

21 January 2018

1 reference

Germline TP53 mutations and Li-Fraumeni syndrome

21 January 2018

1 reference

Mutations of the p53 gene in canine lymphoma and evidence for germ line p53 mutations in the dog

21 January 2018

1 reference

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study

21 January 2018

1 reference

21 January 2018

Surfing the p53 network

1 reference

Clinical impact of TP53 alterations in adrenocortical carcinomas

21 January 2018

1 reference

Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations

21 January 2018

1 reference

Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome

21 January 2018

1 reference

Subgroup-specific prognostic implications of TP53 mutation in medulloblastoma

21 January 2018

1 reference

Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors

21 January 2018

1 reference

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

21 January 2018

1 reference

TP53Germline Mutations in Adult Patients with Adrenocortical Carcinoma

21 January 2018

1 reference

Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families

21 January 2018

1 reference

7 January 2021

High frequency of de novo mutations in Li-Fraumeni syndrome

1 reference

7 January 2021

P53 germline mutations and therapy-related myelodysplastic syndrome

1 reference

7 January 2021

Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer

1 reference

7 January 2021

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

1 reference

7 January 2021

Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients

1 reference

7 January 2021