Linked Life Data

17601929

Source:http://linkedlifedata.com/resource/pubmed/id/17601929

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2007-7-2
pubmed:abstractText
Familial non-Hodgkin lymphoma (NHL) is rare and in most cases, no underlying cause is identifiable. We report homozygous truncating mutations in the mismatch repair gene MSH2 (226C-->T; Q76X) in three siblings who each developed T-cell NHL in early childhood. All three children had hyperpigmented and hypopigmented skin lesions. Constitutional biallelic MSH2 mutations have previously been reported in five individuals, all of whom developed malignancy in childhood. Familial lymphoma has not been reported in this context or in association with biallelic mutations in the other mismatch repair genes MLH1, MSH6 or PMS2. In addition, hypopigmented skin lesions have not previously been reported in biallelic MSH2 carriers. Our findings therefore expand the spectrum of phenotypes associated with biallelic MSH2 mutations and identify a new cause of familial lymphoma. Moreover, the diagnosis has important management implications as it allows the avoidance of chemotherapeutic agents likely to be ineffective and mutagenic in the proband, and the provision of cascade genetic testing and tumour screening for relatives.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-10759711, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-11809679, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-12114115, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-12549480, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-12621137, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-14762794, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-15010846, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-15139004, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-15486066, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-15801953, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-16283678, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-16294218, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-16372347, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-16418736, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-16507833, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-16618716, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-17259933, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-6805315, http://linkedlifedata.com/resource/pubmed/commentcorrection/17601929-8929954
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1468-6244
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
44
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
e83
pubmed:dateRevised
2010-9-14
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations.
pubmed:affiliation
Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, UK, SM2 5NG. richard.scott@icr.ac.uk
pubmed:publicationType
Journal Article, Comparative Study, Case Reports, Research Support, Non-U.S. Gov't