Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia

M D Tischkowitz; N V Morgan; D Grimwade; C Eddy; S Ball; I Vorechovsky; S Langabeer; R Stoger; S V Hodgson; C G Mathew

doi:10.1038/sj.leu.2403280

Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia

M D Tischkowitz, N V Morgan, D Grimwade, C Eddy, S Ball, I Vorechovsky, S Langabeer, R Stoger, S V Hodgson, C G Mathew

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

68 Citations (Scopus)

Abstract

Fanconi anemia ( FA) is an autosomal recessive chromosomal instability disorder caused by mutations in one of seven known genes (FANCA, C, D2, E, F, G and BRCA2). Mutations in the FANCA gene are the most prevalent, accounting for two-thirds of FA cases. Affected individuals have greatly increased risks of acute myeloid leukemia (AML). This raises the question as to whether inherited or acquired mutations in FA genes might be involved in the development of sporadic AML. Quantitative fluorescent PCR was used to screen archival DNA from sporadic AML cases for FANCA deletions, which account for 40% of FANCA mutations in FA homozygotes. Four heterozygous deletions were found in 101 samples screened, which is 35-fold higher than the expected population frequency for germline FANCA deletions (P

Original language	English
Pages (from-to)	420 - 425
Number of pages	6
Journal	Leukemia
Volume	18
Issue number	3
DOIs	https://doi.org/10.1038/sj.leu.2403280
Publication status	Published - Mar 2004

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title = "Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia",

abstract = "Fanconi anemia ( FA) is an autosomal recessive chromosomal instability disorder caused by mutations in one of seven known genes (FANCA, C, D2, E, F, G and BRCA2). Mutations in the FANCA gene are the most prevalent, accounting for two-thirds of FA cases. Affected individuals have greatly increased risks of acute myeloid leukemia (AML). This raises the question as to whether inherited or acquired mutations in FA genes might be involved in the development of sporadic AML. Quantitative fluorescent PCR was used to screen archival DNA from sporadic AML cases for FANCA deletions, which account for 40% of FANCA mutations in FA homozygotes. Four heterozygous deletions were found in 101 samples screened, which is 35-fold higher than the expected population frequency for germline FANCA deletions (P",

author = "Tischkowitz, {M D} and Morgan, {N V} and D Grimwade and C Eddy and S Ball and I Vorechovsky and S Langabeer and R Stoger and Hodgson, {S V} and Mathew, {C G}",

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T1 - Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia

AU - Tischkowitz, M D

AU - Morgan, N V

AU - Grimwade, D

AU - Eddy, C

AU - Ball, S

AU - Vorechovsky, I

AU - Langabeer, S

AU - Stoger, R

AU - Hodgson, S V

AU - Mathew, C G

PY - 2004/3

Y1 - 2004/3

N2 - Fanconi anemia ( FA) is an autosomal recessive chromosomal instability disorder caused by mutations in one of seven known genes (FANCA, C, D2, E, F, G and BRCA2). Mutations in the FANCA gene are the most prevalent, accounting for two-thirds of FA cases. Affected individuals have greatly increased risks of acute myeloid leukemia (AML). This raises the question as to whether inherited or acquired mutations in FA genes might be involved in the development of sporadic AML. Quantitative fluorescent PCR was used to screen archival DNA from sporadic AML cases for FANCA deletions, which account for 40% of FANCA mutations in FA homozygotes. Four heterozygous deletions were found in 101 samples screened, which is 35-fold higher than the expected population frequency for germline FANCA deletions (P

AB - Fanconi anemia ( FA) is an autosomal recessive chromosomal instability disorder caused by mutations in one of seven known genes (FANCA, C, D2, E, F, G and BRCA2). Mutations in the FANCA gene are the most prevalent, accounting for two-thirds of FA cases. Affected individuals have greatly increased risks of acute myeloid leukemia (AML). This raises the question as to whether inherited or acquired mutations in FA genes might be involved in the development of sporadic AML. Quantitative fluorescent PCR was used to screen archival DNA from sporadic AML cases for FANCA deletions, which account for 40% of FANCA mutations in FA homozygotes. Four heterozygous deletions were found in 101 samples screened, which is 35-fold higher than the expected population frequency for germline FANCA deletions (P

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Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia

Abstract

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