Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

David R Goudie; Mariella D'Alessandro; Barry Merriman; Hane Lee; Ildikó Szeverényi; Stuart Avery; Brian D O'Connor; Stanley F Nelson; Stephanie E Coats; Arlene Stewart; Lesley Christie; Gabriella Pichert; Jean Friedel; Ian Hayes; Nigel Burrows; Sean Whittaker; Anne-Marie Axø Gerdes; Sigurd Broesby-Olsen; Malcolm A Ferguson-Smith; Chandra Verma; Declan P Lunny; Bruno Reversade; E Birgitte Lane

doi:10.1038/ng.780

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

David R Goudie, Mariella D'Alessandro, Barry Merriman, Hane Lee, Ildikó Szeverényi, Stuart Avery, Brian D O'Connor, Stanley F Nelson, Stephanie E Coats, Arlene Stewart, Lesley Christie, Gabriella Pichert, Jean Friedel, Ian Hayes, Nigel Burrows, Sean Whittaker, Anne-Marie Axø Gerdes, Sigurd Broesby-Olsen, Malcolm A Ferguson-Smith, Chandra VermaDeclan P Lunny, Bruno Reversade, E Birgitte Lane

113 Citationer (Scopus)

Abstract

Multiple self-healing squamous epithelioma (MSSE), also known as Ferguson-Smith disease (FSD), is an autosomal-dominant skin cancer condition characterized by multiple squamous-carcinomaĝ€"like locally invasive skin tumors that grow rapidly for a few weeks before spontaneously regressing, leaving scars. High-throughput genomic sequencing of a conservative estimate (24.2 Mb) of the disease locus on chromosome 9 using exon array capture identified independent mutations in TGFBR1 in three unrelated families. Subsequent dideoxy sequencing of TGFBR1 identified 11 distinct monoallelic mutations in 18 affected families, firmly establishing TGFBR1 as the causative gene. The nature of the sequence variants, which include mutations in the extracellular ligand-binding domain and a series of truncating mutations in the kinase domain, indicates a clear genotype-phenotype correlation between loss-of-function TGFBR1 mutations and MSSE. This distinguishes MSSE from the Marfan syndromegrelated disorders in which missense mutations in TGFBR1 lead to developmental defects with vascular involvement but no reported predisposition to cancer.

Originalsprog	Engelsk
Tidsskrift	Nature Genetics
Vol/bind	43
Udgave nummer	4
Sider (fra-til)	365-9
Antal sider	5
ISSN	1061-4036
DOI	https://doi.org/10.1038/ng.780
Status	Udgivet - feb. 2011

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Goudie, D. R., D'Alessandro, M., Merriman, B., Lee, H., Szeverényi, I., Avery, S., O'Connor, B. D., Nelson, S. F., Coats, S. E., Stewart, A., Christie, L., Pichert, G., Friedel, J., Hayes, I., Burrows, N., Whittaker, S., Gerdes, A-M. A., Broesby-Olsen, S., Ferguson-Smith, M. A., ... Lane, E. B. (2011). Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nature Genetics, 43(4), 365-9. https://doi.org/10.1038/ng.780

Goudie, DR, D'Alessandro, M, Merriman, B, Lee, H, Szeverényi, I, Avery, S, O'Connor, BD, Nelson, SF, Coats, SE, Stewart, A, Christie, L, Pichert, G, Friedel, J, Hayes, I, Burrows, N, Whittaker, S, Gerdes, A-MA, Broesby-Olsen, S, Ferguson-Smith, MA, Verma, C, Lunny, DP, Reversade, B & Lane, EB 2011, 'Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1', Nature Genetics, bind 43, nr. 4, s. 365-9. https://doi.org/10.1038/ng.780

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title = "Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1",

abstract = "Multiple self-healing squamous epithelioma (MSSE), also known as Ferguson-Smith disease (FSD), is an autosomal-dominant skin cancer condition characterized by multiple squamous-carcinomaĝ€{"}like locally invasive skin tumors that grow rapidly for a few weeks before spontaneously regressing, leaving scars. High-throughput genomic sequencing of a conservative estimate (24.2 Mb) of the disease locus on chromosome 9 using exon array capture identified independent mutations in TGFBR1 in three unrelated families. Subsequent dideoxy sequencing of TGFBR1 identified 11 distinct monoallelic mutations in 18 affected families, firmly establishing TGFBR1 as the causative gene. The nature of the sequence variants, which include mutations in the extracellular ligand-binding domain and a series of truncating mutations in the kinase domain, indicates a clear genotype-phenotype correlation between loss-of-function TGFBR1 mutations and MSSE. This distinguishes MSSE from the Marfan syndromegrelated disorders in which missense mutations in TGFBR1 lead to developmental defects with vascular involvement but no reported predisposition to cancer.",

author = "Goudie, {David R} and Mariella D'Alessandro and Barry Merriman and Hane Lee and Ildik{\'o} Szever{\'e}nyi and Stuart Avery and O'Connor, {Brian D} and Nelson, {Stanley F} and Coats, {Stephanie E} and Arlene Stewart and Lesley Christie and Gabriella Pichert and Jean Friedel and Ian Hayes and Nigel Burrows and Sean Whittaker and Gerdes, {Anne-Marie Ax{\o}} and Sigurd Broesby-Olsen and Ferguson-Smith, {Malcolm A} and Chandra Verma and Lunny, {Declan P} and Bruno Reversade and Lane, {E Birgitte}",

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doi = "10.1038/ng.780",

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T1 - Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

AU - Goudie, David R

AU - D'Alessandro, Mariella

AU - Merriman, Barry

AU - Lee, Hane

AU - Szeverényi, Ildikó

AU - Avery, Stuart

AU - O'Connor, Brian D

AU - Nelson, Stanley F

AU - Coats, Stephanie E

AU - Stewart, Arlene

AU - Christie, Lesley

AU - Pichert, Gabriella

AU - Friedel, Jean

AU - Hayes, Ian

AU - Burrows, Nigel

AU - Whittaker, Sean

AU - Gerdes, Anne-Marie Axø

AU - Broesby-Olsen, Sigurd

AU - Ferguson-Smith, Malcolm A

AU - Verma, Chandra

AU - Lunny, Declan P

AU - Reversade, Bruno

AU - Lane, E Birgitte

PY - 2011/2

Y1 - 2011/2

N2 - Multiple self-healing squamous epithelioma (MSSE), also known as Ferguson-Smith disease (FSD), is an autosomal-dominant skin cancer condition characterized by multiple squamous-carcinomaĝ€"like locally invasive skin tumors that grow rapidly for a few weeks before spontaneously regressing, leaving scars. High-throughput genomic sequencing of a conservative estimate (24.2 Mb) of the disease locus on chromosome 9 using exon array capture identified independent mutations in TGFBR1 in three unrelated families. Subsequent dideoxy sequencing of TGFBR1 identified 11 distinct monoallelic mutations in 18 affected families, firmly establishing TGFBR1 as the causative gene. The nature of the sequence variants, which include mutations in the extracellular ligand-binding domain and a series of truncating mutations in the kinase domain, indicates a clear genotype-phenotype correlation between loss-of-function TGFBR1 mutations and MSSE. This distinguishes MSSE from the Marfan syndromegrelated disorders in which missense mutations in TGFBR1 lead to developmental defects with vascular involvement but no reported predisposition to cancer.

AB - Multiple self-healing squamous epithelioma (MSSE), also known as Ferguson-Smith disease (FSD), is an autosomal-dominant skin cancer condition characterized by multiple squamous-carcinomaĝ€"like locally invasive skin tumors that grow rapidly for a few weeks before spontaneously regressing, leaving scars. High-throughput genomic sequencing of a conservative estimate (24.2 Mb) of the disease locus on chromosome 9 using exon array capture identified independent mutations in TGFBR1 in three unrelated families. Subsequent dideoxy sequencing of TGFBR1 identified 11 distinct monoallelic mutations in 18 affected families, firmly establishing TGFBR1 as the causative gene. The nature of the sequence variants, which include mutations in the extracellular ligand-binding domain and a series of truncating mutations in the kinase domain, indicates a clear genotype-phenotype correlation between loss-of-function TGFBR1 mutations and MSSE. This distinguishes MSSE from the Marfan syndromegrelated disorders in which missense mutations in TGFBR1 lead to developmental defects with vascular involvement but no reported predisposition to cancer.

U2 - 10.1038/ng.780

DO - 10.1038/ng.780

M3 - Journal article

SN - 1061-4036

VL - 43

SP - 365

EP - 369

JO - Nature: New biology

JF - Nature: New biology

IS - 4

ER -

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

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