UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

UKCGG Consensus Group

UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

UKCGG Consensus Group

Cancer Imaging

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

Abstract

Constitutional pathogenic variants in TP53 are
associated with Li-Fraumeni syndrome or the more
recently described heritable TP53-related cancer
syndrome and are associated with increased lifetime
risks of a wide spectrum of cancers. Due to the broad
tumour spectrum, surveillance for this patient group
has been limited. To date, the only recommendation
in the UK has been for annual breast MRI in women;
however, more recently, a more intensive surveillance
protocol including whole-body MRI (WB-MRI) has
been recommended by International Expert Groups. To
address the gap in surveillance for this patient group
in the UK, the UK Cancer Genetics Group facilitated a
1-day consensus meeting to discuss a protocol for the
UK. Using a preworkshop survey followed by structured
discussion on the day, we achieved consensus for a UK
surveillance protocol for TP53 carriers to be adopted by
UK Clinical Genetics services. The key recommendations
are for annual WB-MRI and dedicated brain MRI from
birth, annual breast MRI from 20 years in women and
three-four monthly abdominal ultrasound in children
along with review in a dedicated clinic.

Original language	English
Pages (from-to)	1-5
Journal	J Med Genet
Publication status	E-pub ahead of print - 22 Jun 2020

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Cite this

@article{565601725e2d40f2ac5bccd78cfa86a5,

title = "UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants",

abstract = "Constitutional pathogenic variants in TP53 areassociated with Li-Fraumeni syndrome or the morerecently described heritable TP53-related cancersyndrome and are associated with increased lifetimerisks of a wide spectrum of cancers. Due to the broadtumour spectrum, surveillance for this patient grouphas been limited. To date, the only recommendationin the UK has been for annual breast MRI in women;however, more recently, a more intensive surveillanceprotocol including whole-body MRI (WB-MRI) hasbeen recommended by International Expert Groups. Toaddress the gap in surveillance for this patient groupin the UK, the UK Cancer Genetics Group facilitated a1-day consensus meeting to discuss a protocol for theUK. Using a preworkshop survey followed by structureddiscussion on the day, we achieved consensus for a UKsurveillance protocol for TP53 carriers to be adopted byUK Clinical Genetics services. The key recommendationsare for annual WB-MRI and dedicated brain MRI frombirth, annual breast MRI from 20 years in women andthree-four monthly abdominal ultrasound in childrenalong with review in a dedicated clinic.",

author = "Helen Hanson and Angela Brady and Gillian Crawford and Rosalind eales and Sarah Gibson and Mette Jorgensen and Aslam Sohaib and Louise Izatt and Marc Tischkowitz and Gareth Evans and {UKCGG Consensus Group} and Vicky Goh",

year = "2020",

month = jun,

day = "22",

language = "English",

pages = "1--5",

journal = "J Med Genet",

issn = "0022-2593",

publisher = "B M J PUBLISHING GROUP",

}

TY - JOUR

T1 - UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

AU - Hanson, Helen

AU - Brady, Angela

AU - Crawford, Gillian

AU - eales, Rosalind

AU - Gibson, Sarah

AU - Jorgensen, Mette

AU - Sohaib, Aslam

AU - Izatt, Louise

AU - Tischkowitz, Marc

AU - Evans, Gareth

AU - UKCGG Consensus Group

AU - Goh, Vicky

PY - 2020/6/22

Y1 - 2020/6/22

N2 - Constitutional pathogenic variants in TP53 areassociated with Li-Fraumeni syndrome or the morerecently described heritable TP53-related cancersyndrome and are associated with increased lifetimerisks of a wide spectrum of cancers. Due to the broadtumour spectrum, surveillance for this patient grouphas been limited. To date, the only recommendationin the UK has been for annual breast MRI in women;however, more recently, a more intensive surveillanceprotocol including whole-body MRI (WB-MRI) hasbeen recommended by International Expert Groups. Toaddress the gap in surveillance for this patient groupin the UK, the UK Cancer Genetics Group facilitated a1-day consensus meeting to discuss a protocol for theUK. Using a preworkshop survey followed by structureddiscussion on the day, we achieved consensus for a UKsurveillance protocol for TP53 carriers to be adopted byUK Clinical Genetics services. The key recommendationsare for annual WB-MRI and dedicated brain MRI frombirth, annual breast MRI from 20 years in women andthree-four monthly abdominal ultrasound in childrenalong with review in a dedicated clinic.

AB - Constitutional pathogenic variants in TP53 areassociated with Li-Fraumeni syndrome or the morerecently described heritable TP53-related cancersyndrome and are associated with increased lifetimerisks of a wide spectrum of cancers. Due to the broadtumour spectrum, surveillance for this patient grouphas been limited. To date, the only recommendationin the UK has been for annual breast MRI in women;however, more recently, a more intensive surveillanceprotocol including whole-body MRI (WB-MRI) hasbeen recommended by International Expert Groups. Toaddress the gap in surveillance for this patient groupin the UK, the UK Cancer Genetics Group facilitated a1-day consensus meeting to discuss a protocol for theUK. Using a preworkshop survey followed by structureddiscussion on the day, we achieved consensus for a UKsurveillance protocol for TP53 carriers to be adopted byUK Clinical Genetics services. The key recommendationsare for annual WB-MRI and dedicated brain MRI frombirth, annual breast MRI from 20 years in women andthree-four monthly abdominal ultrasound in childrenalong with review in a dedicated clinic.

M3 - Article

SN - 0022-2593

SP - 1

EP - 5

JO - J Med Genet

JF - J Med Genet

ER -

UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

Abstract

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