Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML. (Q35205646)

7 August 2017

title

Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML. (English)

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7 August 2017

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whole genome sequencing

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Timothy A Graubert

27

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Jennifer L. Ivanovich

8

object named as

Jennifer Ivanovich

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32

Elaine R Mardis

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7 August 2017

10

Michelle Le Beau

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31

Richard K Wilson

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15

Lucinda L Fulton

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Kimberly D Delehaunty

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23

Michael D McLellan

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11

Daniel C Koboldt

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29

Timothy J Ley

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7 August 2017

17

Catrina C Fronick

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7 August 2017

19

Heather Schmidt

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7 August 2017

12

David J Dooling

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7 August 2017

7

Jacqueline E Payton

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7 August 2017

25

Rakesh Nagarajan

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7 August 2017

24

Nobish Varghese

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7 August 2017

9

Paul J Goodfellow

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7 August 2017

Daniel C Link

1

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7 August 2017

Laura G Schuettpelz

2

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7 August 2017

Dong Shen

3

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7 August 2017

Jinling Wang

4

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7 August 2017

Matthew J Walter

5

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7 August 2017

Shashikant Kulkarni

6

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7 August 2017

Robert S Fulton

13

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7 August 2017

R Hugh F Bender

14

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7 August 2017

Elizabeth L Appelbaum

18

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7 August 2017

Rachel Abbott

20

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7 August 2017

Michelle O'Laughlin

21

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7 August 2017

Ken Chen

22

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7 August 2017

Sharon Heath

26

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7 August 2017

Li Ding

28

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7 August 2017

Gerard P Zambetti

30

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7 August 2017

language of work or name

English

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publication date

1 April 2011

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The Journal of the American Medical Association

7 August 2017

published in

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7 August 2017

volume

305

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7 August 2017

issue

15

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7 August 2017

page(s)

1568-1576

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

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

The isoforms of the p53 protein

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

Recurring mutations found by sequencing an acute myeloid leukemia genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

13 July 2018

1 reference

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

Hereditary cancer predisposition syndromes

13 July 2018

1 reference

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

Detection of large-scale variation in the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

Wild-type p53 mediates positive regulation of gene expression through a specific DNA sequence element

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

Myelodysplastic syndromes arising in patients with germline TP53 mutation and Li-Fraumeni syndrome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

Acute myelogenous leukemia in a patient with Li-Fraumeni syndrome treated with valproic acid, theophyllamine and all-trans retinoic acid: a case report

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

A patient with TP53 germline mutation developed Bowen's disease and myelodysplastic syndrome with myelofibrosis after chemotherapy against ovarian cancer

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

The p53 gene in pediatric therapy-related leukemia and myelodysplasia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170052

Identification of a novel germ line variant hotspot mutant p53-R175L in pediatric adrenal cortical carcinoma

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21505135

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

High frequency of de novo mutations in Li-Fraumeni syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21505135

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Emergence of secondary acute leukemia in a patient treated for osteosarcoma: implications of germline TP53 mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21505135

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMA.2011.473

1 reference

7 August 2017

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7 August 2017

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