Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium (Q36672536)

15 August 2017

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

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15 August 2017

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13

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10

Maria Isabel Achatz

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15 August 2017

21

Uri Tabori

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David Malkin

2

David Malkin

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Sharon A. Savage

Sharon A Savage

27

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Pierre Hainaut

Pierre Hainaut

11

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Jeffrey N Weitzel

5

Jeffrey N Weitzel

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15 August 2017

20

James Ford

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15 August 2017

17

Benjamin Wilfond

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15 August 2017

Andrea Farkas Patenaude

15

Andrea Patenaude

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15 August 2017

3

Judy E Garber

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15 August 2017

Phuong L Mai

1

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15 August 2017

Joshua D Schiffman

4

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15 August 2017

Louise C Strong

6

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15 August 2017

Oliver Wyss

7

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15 August 2017

Luana Locke

8

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15 August 2017

Von Means

9

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15 August 2017

Thierry Frebourg

12

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15 August 2017

Eveline Bleiker

14

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15 August 2017

Katherine Schneider

16

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15 August 2017

June A Peters

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15 August 2017

Paul M Hwang

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15 August 2017

Simona Ognjanovic

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15 August 2017

Phillip A Dennis

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15 August 2017

Ingrid M Wentzensen

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15 August 2017

Mark H Greene

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15 August 2017

Joseph F Fraumeni

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15 August 2017

language of work or name

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29 August 2012

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15 August 2017

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205

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10

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479-487

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Mitochondrial respiration protects against oxygen-associated DNA damage

15 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Effects of MDM2, MDM4 and TP53 codon 72 polymorphisms on cancer risk in a cohort study of carriers of TP53 germline mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Effects of measured susceptibility genes on cancer risk in family studies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Risk stratification in cancer predisposition syndromes: lessons learned from novel molecular developments in Li-Fraumeni syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

TIGAR, a p53-inducible regulator of glycolysis and apoptosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

p53 regulates mitochondrial respiration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Psychological impact of genetic testing for cancer susceptibility: an update of the literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Germline TP53 mutations and Li-Fraumeni syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Germline mutations in the TP53 gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

A cancer family syndrome in twenty-four kindreds

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Follow-up study of twenty-four families with Li-Fraumeni syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Segregation analysis of cancer in families of childhood soft-tissue-sarcoma patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Sensitivity and predictive value of criteria for p53 germline mutation screening

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

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

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3593717

Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22939227

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22939227

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22939227

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.CANCERGEN.2012.06.008

1 reference

15 August 2017

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15 August 2017

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