Golestan University of Medical Sciences Repository

Mutations in Fanconi anemia genes and the risk of esophageal cancer

Akbari, M.R. and Malekzadeh, R. and Lepage, P. and Roquis, D. and Sadjadi, A.R. and Aghcheli, K. and Yazdanbod, A. and Shakeri, R. and Bashiri, J. and Sotoudeh, M. and Pourshams, A. and Ghadirian, P. and Narod, S.A. (2011) Mutations in Fanconi anemia genes and the risk of esophageal cancer. Human Genetics, 129 (5). pp. 573-582. ISSN 03406717

[img] PDF - Published Version
Restricted to Repository staff only

Download (213kB)


The incidence of esophageal squamous cell carcinoma (ESCC) is very high in northeastern Iran. Previously, we reported a strong familial component of ESCC among Turkmens, who constitute approximately one-half of the population of this region. We hypothesized that the genes which cause Fanconi anemia might be candidate genes for ESCC. We sequenced the entire coding regions of 12 Fanconi anemia genes in the germline DNA of 190 Turkmen cases of ESCC. We identified three heterozygous insertion/deletion mutations: one in FANCD2 (p.Val1233del), one in FANCE (p.Val311SerfsX2), and one in FANCL (p.Thr367AsnfsX13). All three patients had a strong family history of ESCC. In addition, four patients (out of 746 tested) were homozygous for the FANCA p.Ser858Arg mutation, compared to none of 1,373 matched controls (OR = 16.7, 95% CI = 6.2-44.2, P = 0.01). The p. Lys3326X mutation in BRCA2 (also known as Fanconi anemia gene FANCD1) was present in 27 of 746 ESCC cases and in 16 of 1,373 controls (OR = 3.38, 95% CI = 1.97-6.91, P = 0.0002). In summary, both heterozygous and homozygous mutations in several Fanconi anemia-predisposing genes are associated with an increased risk of ESCC in Iran. © 2011 Springer-Verlag.

Item Type: Article
Additional Information: cited By 6
Uncontrolled Keywords: alanine; arginine; asparagine; cysteine; DNA; glutamic acid; glutamine; glycine; leucine; lysine; phenylalanine; serine; threonine; valine, adult; aged; article; BRCA2 gene; cancer risk; controlled study; disease association; esophageal squamous cell carcinoma; esophagus cancer; family history; FANCA gene; fancb gene; fancc gene; fancd1 gene; fancd2 gene; fance gene; FANCI gene; fancl gene; fancm gene; fancn gene; Fanconi anemia; female; gene; gene identification; gene mutation; gene sequence; genetic susceptibility; heterozygosity; homozygosity; human; major clinical study; male; priority journal, Adult; Aged; Aged, 80 and over; Carcinoma, Squamous Cell; Esophageal Neoplasms; Fanconi Anemia; Fanconi Anemia Complementation Group D2 Protein; Fanconi Anemia Complementation Group E Protein; Fanconi Anemia Complementation Group L Protein; Female; Genes, BRCA2; Genetic Predisposition to Disease; Humans; INDEL Mutation; Iran; Male; Middle Aged; Risk
Subjects: کهورت
مقالات نمایه شده محققین دانشگاه در سایت ,Web of Science ,Scopus
موارد کلی
Divisions: معاونت تحقیقات و فناوری
Depositing User: GOUMS
Date Deposited: 21 Apr 2015 07:12
Last Modified: 16 Apr 2018 10:00
URI: http://eprints.goums.ac.ir/id/eprint/2595

Actions (login required)

View Item View Item