title

جهش در ژنهاي کم خونی فانکونی و خطر ابتلا به سرطان مری

اکبری, محمدرضا and ملک زاده, رضا and Lepage, Pierre and Roquis, David and سجادی, علیرضا and آلچلی, کریم and یزدانبد, عباس and شاکری, رامین and بشیری, جعفر and ستوده, مسعود and پورشمس, اکرم and قادریان, پرویز and Narod, Steven A (1390) جهش در ژنهاي کم خونی فانکونی و خطر ابتلا به سرطان مری. human genetics ــ 129 (5). pp. 573-582. شاپا 0340-6717

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Title

Mutations in Fanconi anemia genes and the risk of esophageal cancer

English Abstract

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.Val1233- del), 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.

Item Type:Article
زبان سند : انگلیسی
نویسنده اول :محمدرضا اکبری
نویسنده مسئول :رضا ملک زاده
نویسنده :Pierre Lepage
نویسنده :David Roquis
نویسنده :علیرضا سجادی
نویسنده :کریم آلچلی
نویسنده :عباس یزدانبد
نویسنده :رامین شاکری
نویسنده :جعفر بشیری
نویسنده :مسعود ستوده
نویسنده :اکرم پورشمس
نویسنده :پرویز قادریان
نویسنده :Steven A Narod
Additional Information:IF: 4.523 Indexed in: ISI, PubMed/Medline, Scopus, Embase
کلیدواژه ها (انگلیسی):fanconi anemia , esophageal cancer, mutations, iran
Subjects:WI Digestive System
Divisions:Faculty of Medicine > Department of Internal Medicine , Cardiology , Infectious
ID Code:2441
Deposited By: Dr Abbas Yazdanbod
Deposited On:11 Apr 1390 08:42
Last Modified:07 Dec 1402 10:38

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