Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.

Hepatoblastoma is the most common primary liver tumor in childhood and occurs more commonly in families with familial adenomatous polyposis. Germline mutations of the gene responsible for familial adenomatous polyposis--adenomatous polyposis coli (APC)--are described in patients with hepatoblastoma...

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Κύριοι συγγραφείς: Harvey, J, Clark, S, Hyer, W, Hadzic, N, Tomlinson, I, Hinds, R
Μορφή: Journal article
Γλώσσα:English
Έκδοση: 2008
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author Harvey, J
Clark, S
Hyer, W
Hadzic, N
Tomlinson, I
Hinds, R
author_facet Harvey, J
Clark, S
Hyer, W
Hadzic, N
Tomlinson, I
Hinds, R
author_sort Harvey, J
collection OXFORD
description Hepatoblastoma is the most common primary liver tumor in childhood and occurs more commonly in families with familial adenomatous polyposis. Germline mutations of the gene responsible for familial adenomatous polyposis--adenomatous polyposis coli (APC)--are described in patients with hepatoblastoma even without a family history. We investigated children presenting with apparently sporadic hepatoblastoma between 1991 and 2004. Blood samples were available from 29 children (18 boys) whose conditions were diagnosed at a median age of 22 months (range 6-119 months). No germline APC mutations were found, which does not support the need for routine screening in sporadic hepatoblastoma in the absence of a suggestive family history of colorectal cancer or suspicion of familial adenomatous polyposis.
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spelling oxford-uuid:13039d81-f4cc-4579-aa2e-3b8594b8f05a2022-03-26T10:11:23ZGermline APC mutations are not commonly seen in children with sporadic hepatoblastoma.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:13039d81-f4cc-4579-aa2e-3b8594b8f05aEnglishSymplectic Elements at Oxford2008Harvey, JClark, SHyer, WHadzic, NTomlinson, IHinds, RHepatoblastoma is the most common primary liver tumor in childhood and occurs more commonly in families with familial adenomatous polyposis. Germline mutations of the gene responsible for familial adenomatous polyposis--adenomatous polyposis coli (APC)--are described in patients with hepatoblastoma even without a family history. We investigated children presenting with apparently sporadic hepatoblastoma between 1991 and 2004. Blood samples were available from 29 children (18 boys) whose conditions were diagnosed at a median age of 22 months (range 6-119 months). No germline APC mutations were found, which does not support the need for routine screening in sporadic hepatoblastoma in the absence of a suggestive family history of colorectal cancer or suspicion of familial adenomatous polyposis.
spellingShingle Harvey, J
Clark, S
Hyer, W
Hadzic, N
Tomlinson, I
Hinds, R
Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.
title Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.
title_full Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.
title_fullStr Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.
title_full_unstemmed Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.
title_short Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.
title_sort germline apc mutations are not commonly seen in children with sporadic hepatoblastoma
work_keys_str_mv AT harveyj germlineapcmutationsarenotcommonlyseeninchildrenwithsporadichepatoblastoma
AT clarks germlineapcmutationsarenotcommonlyseeninchildrenwithsporadichepatoblastoma
AT hyerw germlineapcmutationsarenotcommonlyseeninchildrenwithsporadichepatoblastoma
AT hadzicn germlineapcmutationsarenotcommonlyseeninchildrenwithsporadichepatoblastoma
AT tomlinsoni germlineapcmutationsarenotcommonlyseeninchildrenwithsporadichepatoblastoma
AT hindsr germlineapcmutationsarenotcommonlyseeninchildrenwithsporadichepatoblastoma