Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome

N.C.M. Hearle; M.F. Rudd; W. Lim; V. Murday; A.G. Lim; R.K. Phillips; P.W. Lee; J. O'Donohue; Patrick Morrison; A. Norman; S.V. Hodgson; A. Lucassen; R.S. Houlston

doi:10.1136/jmg.2005.036830

Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome

N.C.M. Hearle
, M.F. Rudd
, W. Lim
, V. Murday
, A.G. Lim
, R.K. Phillips
, P.W. Lee
, J. O'Donohue
, Patrick Morrison
, A. Norman
, S.V. Hodgson
, A. Lucassen
, R.S. Houlston

School of Medicine, Dentistry and Biomedical Sciences

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

56 Citations (Scopus)

Abstract

Background: Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant cancer predisposition syndrome characterised by oro-facial pigmentation and hamartomatous polyposis of the gastrointestinal tract. A causal germline mutation in STK11 can be identified in 30% to 80% of PJS patients.

Original language	English
Pages (from-to)	e15
Journal	Journal of Medical Genetics
Volume	43
Issue number	4
DOIs	https://doi.org/10.1136/jmg.2005.036830
Publication status	Published - Apr 2006

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1136/jmg.2005.036830

Cite this

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title = "Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome",

abstract = "Background: Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant cancer predisposition syndrome characterised by oro-facial pigmentation and hamartomatous polyposis of the gastrointestinal tract. A causal germline mutation in STK11 can be identified in 30\% to 80\% of PJS patients.",

author = "N.C.M. Hearle and M.F. Rudd and W. Lim and V. Murday and A.G. Lim and R.K. Phillips and P.W. Lee and J. O'Donohue and Patrick Morrison and A. Norman and S.V. Hodgson and A. Lucassen and R.S. Houlston",

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T1 - Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome

AU - Hearle, N.C.M.

AU - Rudd, M.F.

AU - Lim, W.

AU - Murday, V.

AU - Lim, A.G.

AU - Phillips, R.K.

AU - Lee, P.W.

AU - O'Donohue, J.

AU - Morrison, Patrick

AU - Norman, A.

AU - Hodgson, S.V.

AU - Lucassen, A.

AU - Houlston, R.S.

PY - 2006/4

Y1 - 2006/4

N2 - Background: Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant cancer predisposition syndrome characterised by oro-facial pigmentation and hamartomatous polyposis of the gastrointestinal tract. A causal germline mutation in STK11 can be identified in 30% to 80% of PJS patients.

AB - Background: Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant cancer predisposition syndrome characterised by oro-facial pigmentation and hamartomatous polyposis of the gastrointestinal tract. A causal germline mutation in STK11 can be identified in 30% to 80% of PJS patients.

U2 - 10.1136/jmg.2005.036830

DO - 10.1136/jmg.2005.036830

M3 - Article

SN - 0022-2593

VL - 43

SP - e15

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 4

ER -

Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome

Abstract

UN SDGs

ASJC Scopus subject areas

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