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dc.contributor.authorSmetsers, S
dc.contributor.authorMuter, J
dc.contributor.authorBristow, C
dc.contributor.authorPatel, L
dc.contributor.authorChandler, K
dc.contributor.authorBonney, D
dc.contributor.authorWynn, R
dc.contributor.authorWhetton, A
dc.contributor.authorWill, A
dc.contributor.authorRockx, D
dc.contributor.authorJoenje, H
dc.contributor.authorStrathdee, G
dc.contributor.authorShanks, Jonathan H
dc.contributor.authorKlopocki, E
dc.contributor.authorGille, J
dc.contributor.authorDorsman, J
dc.contributor.authorMeyer, Stefan
dc.date.accessioned2013-01-14T09:42:25Z
dc.date.available2013-01-14T09:42:25Z
dc.date.issued2012-12
dc.identifier.citationHeterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma. 2012, 11 (4):661-5 Fam Canceren_GB
dc.identifier.issn1573-7292
dc.identifier.pmid22829014
dc.identifier.doi10.1007/s10689-012-9553-3
dc.identifier.urihttp://hdl.handle.net/10541/265197
dc.description.abstractFanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities characterised by cellular cross linker hypersensitivity. FA is caused by mutations in any of so far 15 identified FANC genes, which encode proteins that interact in a common DNA damage response (DDR) pathway. Individuals with FA have a high risk of developing acute myeloid leukaemia (AML) and squamous cell carcinoma. An increased cancer risk has been firmly established for carriers of mutations in FANCD1/BRCA2, FANCJ/BRIP1, FANCN/PALB2, RAD51C/FANCO and link the FA pathway to inherited breast and ovarian cancer. We describe a pedigree with FANCD2 mutations c.458T > C (p.Leu153Ser) and c.2715 + 1G > A (p.Glu906LeufsX4) with mild phenotype FA in the index case, T cell ALL in the Leu153Ser heterozygous brother and testicular seminoma in the p.Glu906LeufsX4 heterozygous father. Both FANCD2 alleles were present in the T Cell ALL and the seminoma. This links specific FANCD2 mutations to T cell ALL and seminoma without evidence of allelic loss in the tumour tissue.
dc.language.isoenen
dc.rightsArchived with thanks to Familial canceren_GB
dc.titleHeterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma.en
dc.typeArticleen
dc.contributor.departmentDepartment of Clinical Genetics and Human Genetics, University Medical Centre, Free University of Amsterdam, Amsterdam, The Netherlands.en_GB
dc.identifier.journalFamilial Canceren_GB
html.description.abstractFanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities characterised by cellular cross linker hypersensitivity. FA is caused by mutations in any of so far 15 identified FANC genes, which encode proteins that interact in a common DNA damage response (DDR) pathway. Individuals with FA have a high risk of developing acute myeloid leukaemia (AML) and squamous cell carcinoma. An increased cancer risk has been firmly established for carriers of mutations in FANCD1/BRCA2, FANCJ/BRIP1, FANCN/PALB2, RAD51C/FANCO and link the FA pathway to inherited breast and ovarian cancer. We describe a pedigree with FANCD2 mutations c.458T > C (p.Leu153Ser) and c.2715 + 1G > A (p.Glu906LeufsX4) with mild phenotype FA in the index case, T cell ALL in the Leu153Ser heterozygous brother and testicular seminoma in the p.Glu906LeufsX4 heterozygous father. Both FANCD2 alleles were present in the T Cell ALL and the seminoma. This links specific FANCD2 mutations to T cell ALL and seminoma without evidence of allelic loss in the tumour tissue.


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