caa a22 4500 445861754 CHVBK 20180317145445.0 cr unu---uuuuu 170323e20110501xx s 000 0 eng 10.1007/s00439-011-0951-7 doi (NATIONALLICENCE)springer-10.1007/s00439-011-0951-7 Mutations in Fanconi anemia genes and the risk of esophageal cancer [Elektronische Daten] [Mohammad Akbari, Reza Malekzadeh, Pierre Lepage, David Roquis, Ali Sadjadi, Karim Aghcheli, Abbas Yazdanbod, Ramin Shakeri, Jafar Bashiri, Masoud Sotoudeh, Akram Pourshams, Parviz Ghadirian, Steven Narod] 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. Springer-Verlag, 2011 Akbari Mohammad Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut Malekzadeh Reza Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut Lepage Pierre Genome Quebec Innovation Centre, McGill University, Montreal, Canada aut Roquis David Genome Quebec Innovation Centre, McGill University, Montreal, Canada aut Sadjadi Ali Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut Aghcheli Karim Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut Yazdanbod Abbas Department of Internal Medicine, Ardabil University of Medical Science, Ardabil, Iran aut Shakeri Ramin Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut Bashiri Jafar Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut Sotoudeh Masoud Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut Pourshams Akram Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut Ghadirian Parviz Epidemiology Research Unit Research Centre, CHUM-Hôtel-Dieu, University of Montreal, Montreal, Canada aut Narod Steven Women's College Research Institute, University of Toronto, 7th Floor, 790 Bay Street, M5G 1N8, Toronto, ON, Canada aut Human Genetics Springer-Verlag 129/5(2011-05-01), 573-582 0340-6717 129:5<573 2011 129 439 https://doi.org/10.1007/s00439-011-0951-7 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-011-0951-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Akbari Mohammad Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut NATIONALLICENCE 700 1- Malekzadeh Reza Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut NATIONALLICENCE 700 1- Lepage Pierre Genome Quebec Innovation Centre, McGill University, Montreal, Canada aut NATIONALLICENCE 700 1- Roquis David Genome Quebec Innovation Centre, McGill University, Montreal, Canada aut NATIONALLICENCE 700 1- Sadjadi Ali Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut NATIONALLICENCE 700 1- Aghcheli Karim Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut NATIONALLICENCE 700 1- Yazdanbod Abbas Department of Internal Medicine, Ardabil University of Medical Science, Ardabil, Iran aut NATIONALLICENCE 700 1- Shakeri Ramin Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut NATIONALLICENCE 700 1- Bashiri Jafar Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut NATIONALLICENCE 700 1- Sotoudeh Masoud Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut NATIONALLICENCE 700 1- Pourshams Akram Digestive Disease Research Center, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Street, 14114, Tehran, Iran aut NATIONALLICENCE 700 1- Ghadirian Parviz Epidemiology Research Unit Research Centre, CHUM-Hôtel-Dieu, University of Montreal, Montreal, Canada aut NATIONALLICENCE 700 1- Narod Steven Women's College Research Institute, University of Toronto, 7th Floor, 790 Bay Street, M5G 1N8, Toronto, ON, Canada aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 129/5(2011-05-01), 573-582 0340-6717 129:5<573 2011 129 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer