Report of a bi-allelic truncating germline mutation in TP53

Natasha J Brown; Kanika Bhatia; Julie Teague; Susan M White; Patrick Lo; Jackie Challis; Victoria Beshay; Michael Sullivan; David Malkin; Jordan R Hansford

doi:10.1007/s10689-018-0087-1

Report of a bi-allelic truncating germline mutation in TP53

Natasha J Brown, Kanika Bhatia, Julie Teague, Susan M White, Patrick Lo, Jackie Challis, Victoria Beshay, Michael Sullivan, David Malkin, Jordan R Hansford

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

Abstract

The TP53 gene is fundamental to genomic integrity, cell cycle regulation, and apoptosis; it is the most commonly mutated gene in human cancer. Heterozygous germline mutations cause the autosomal dominant cancer predisposition syndrome, Li-Fraumeni Syndrome. Homozygous germline TP53 mutations in humans are rare. We report an infant from a consanguineous family who presented with synchronous malignancies. Remarkably, he carries a homozygous germline TP53 mutation (NM_000546.4:c.52delA), predicted to cause protein truncation. The family history is consistent with Li-Fraumeni syndrome.

Original language	English
Pages (from-to)	101-104
Number of pages	4
Journal	Familial cancer
Volume	18
Issue number	1
DOIs	https://doi.org/10.1007/s10689-018-0087-1
Publication status	Published or Issued - Jan 2019
Externally published	Yes

Keywords

Carcinoma/diagnostic imaging
Choroid Plexus Neoplasms/diagnostic imaging
Consanguinity
Germ-Line Mutation
Homozygote
Humans
Infant
Li-Fraumeni Syndrome/genetics
Magnetic Resonance Imaging
Male
Neoplasms, Multiple Primary/diagnostic imaging
Orbital Neoplasms/diagnostic imaging
Pedigree
Rhabdomyosarcoma, Embryonal/diagnostic imaging
Tumor Suppressor Protein p53/genetics

Access to Document

10.1007/s10689-018-0087-1

Cite this

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title = "Report of a bi-allelic truncating germline mutation in TP53",

abstract = "The TP53 gene is fundamental to genomic integrity, cell cycle regulation, and apoptosis; it is the most commonly mutated gene in human cancer. Heterozygous germline mutations cause the autosomal dominant cancer predisposition syndrome, Li-Fraumeni Syndrome. Homozygous germline TP53 mutations in humans are rare. We report an infant from a consanguineous family who presented with synchronous malignancies. Remarkably, he carries a homozygous germline TP53 mutation (NM_000546.4:c.52delA), predicted to cause protein truncation. The family history is consistent with Li-Fraumeni syndrome.",

keywords = "Carcinoma/diagnostic imaging, Choroid Plexus Neoplasms/diagnostic imaging, Consanguinity, Germ-Line Mutation, Homozygote, Humans, Infant, Li-Fraumeni Syndrome/genetics, Magnetic Resonance Imaging, Male, Neoplasms, Multiple Primary/diagnostic imaging, Orbital Neoplasms/diagnostic imaging, Pedigree, Rhabdomyosarcoma, Embryonal/diagnostic imaging, Tumor Suppressor Protein p53/genetics",

author = "Brown, {Natasha J} and Kanika Bhatia and Julie Teague and White, {Susan M} and Patrick Lo and Jackie Challis and Victoria Beshay and Michael Sullivan and David Malkin and Hansford, {Jordan R}",

year = "2019",

month = jan,

doi = "10.1007/s10689-018-0087-1",

language = "English",

volume = "18",

pages = "101--104",

journal = "Familial cancer",

issn = "1389-9600",

publisher = "Springer Science and Business Media B.V.",

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TY - JOUR

T1 - Report of a bi-allelic truncating germline mutation in TP53

AU - Brown, Natasha J

AU - Bhatia, Kanika

AU - Teague, Julie

AU - White, Susan M

AU - Lo, Patrick

AU - Challis, Jackie

AU - Beshay, Victoria

AU - Sullivan, Michael

AU - Malkin, David

AU - Hansford, Jordan R

PY - 2019/1

Y1 - 2019/1

N2 - The TP53 gene is fundamental to genomic integrity, cell cycle regulation, and apoptosis; it is the most commonly mutated gene in human cancer. Heterozygous germline mutations cause the autosomal dominant cancer predisposition syndrome, Li-Fraumeni Syndrome. Homozygous germline TP53 mutations in humans are rare. We report an infant from a consanguineous family who presented with synchronous malignancies. Remarkably, he carries a homozygous germline TP53 mutation (NM_000546.4:c.52delA), predicted to cause protein truncation. The family history is consistent with Li-Fraumeni syndrome.

AB - The TP53 gene is fundamental to genomic integrity, cell cycle regulation, and apoptosis; it is the most commonly mutated gene in human cancer. Heterozygous germline mutations cause the autosomal dominant cancer predisposition syndrome, Li-Fraumeni Syndrome. Homozygous germline TP53 mutations in humans are rare. We report an infant from a consanguineous family who presented with synchronous malignancies. Remarkably, he carries a homozygous germline TP53 mutation (NM_000546.4:c.52delA), predicted to cause protein truncation. The family history is consistent with Li-Fraumeni syndrome.

KW - Carcinoma/diagnostic imaging

KW - Choroid Plexus Neoplasms/diagnostic imaging

KW - Consanguinity

KW - Germ-Line Mutation

KW - Homozygote

KW - Humans

KW - Infant

KW - Li-Fraumeni Syndrome/genetics

KW - Magnetic Resonance Imaging

KW - Male

KW - Neoplasms, Multiple Primary/diagnostic imaging

KW - Orbital Neoplasms/diagnostic imaging

KW - Pedigree

KW - Rhabdomyosarcoma, Embryonal/diagnostic imaging

KW - Tumor Suppressor Protein p53/genetics

U2 - 10.1007/s10689-018-0087-1

DO - 10.1007/s10689-018-0087-1

M3 - Article

C2 - 29737433

SN - 1389-9600

VL - 18

SP - 101

EP - 104

JO - Familial cancer

JF - Familial cancer

IS - 1

ER -