Germline BRCA2 mutations and the risk of esophageal squamous cell carcinoma

Akbari, Mohammad Reza; Malekzadeh, Reza; Nasrollahzadeh, Dariush; Amanian, Dayan; Islami, Farhad; Li, S; Zandvakili, Inuk; Shakeri, Ramin; Sotoudeh, Masoud; Aghcheli, K; Salahi, Rasool; Pourshams, Akram; Semnani, Shahryar; Boffetta, Paolo; Dawsey, Sanford M.; Ghadirian, Parviz; Narod, Steven A.

doi:10.1038/sj.onc.1210739

Cited by 68 publications

(73 citation statements)

References 42 publications

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“…All Fanconi anemia pathway genes [except BRCA2 (FANCD1) which was studied previously] (Akbari et al 2008) were selected as candidate genes for sequencing in the germline DNA (extracted from peripheral blood lymphocytes) of the 190 Turkmen ESCC patients. Because of the large amount of DNA required for this step, the wholegenome amplified DNA was used for sequencing.…”

Section: Candidate Genes Sequencingmentioning

confidence: 99%

“…We found that the p. Lys3326X nonsense BRCA2 mutation was more frequent in ESCC patients than in controls (OR = 6.0, 95% CI = 1.3-28, P = 0.01) (Akbari et al 2008). BRCA2 was originally described as a breast cancer susceptibility gene (Wooster et al 1995), but BRCA2 germline mutations have also been shown to increase the risk of ovarian (Narod 2002), prostate (Simard et al 2003), and pancreatic cancers (Lowenfels and Maisonneuve 2005).…”

Section: Introductionmentioning

confidence: 96%

“…Previously, we scanned the coding regions of the BRCA2 gene (a member of the Fanconi anemia gene pathway) in the germline DNA of 197 Turkmens with ESCC (Akbari et al 2008). We found that the p. Lys3326X nonsense BRCA2 mutation was more frequent in ESCC patients than in controls (OR = 6.0, 95% CI = 1.3-28, P = 0.01) (Akbari et al 2008).…”

Section: Introductionmentioning

confidence: 97%

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Mutations in Fanconi anemia genes and the risk of esophageal cancer

et al. 2011

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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.

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Section: Candidate Genes Sequencingmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 96%

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Mutations in Fanconi anemia genes and the risk of esophageal cancer

et al. 2011

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“…Although in the USA and other westernized countries excessive alcohol consumption, tobacco use, low fruit and vegetable intake, and being of a low socioeconomic class have been associated with ESCC risk [8,9], in Iran and China alcohol and tobacco consumption are not related to the risk [10,11,12,13,14,15,16,17,18,19,20,21]. …”

Section: Introductionmentioning

confidence: 99%

Adherence to Dietary Recommendations and Risk of Esophageal Squamous Cell Carcinoma: A Case-Control Study in Iran

Jessri¹,

Rashidkhani²,

Hajizadeh³

et al. 2011

Ann Nutr Metab

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Background/Aim: The Dietary Guidelines for Americans Adherence Index (DGAI) 2005 was developed to assess the contribution of dietary patterns to chronic disease risk. The objective of this study was to evaluate the association of dietary patterns as measured by the DGAI 2005 with the esophageal squamous cell carcinoma (ESCC) risk in Iran. Methods: This case-control study was conducted on 50 ESCC cases and 100 hospital controls aged 40–75 years. Participants were interviewed using validated food frequency questionnaires and the DGAI score was calculated subsequently. Results: Generally, the mean DGAI 2005 score for this population was low (9.54 ± 1.79) and the control group scored significantly higher compared to the ESCC cases (p < 0.001). Being in the highest tertile of DGAI scores reduced the risk of ESCC by 31%. Consumption of salty, peppery, and sour foods in combination increased the ESCC risk by 7.23%, followed by consumption of fried/barbecued meals (OR 3.79; 95% CI 1.10–5.44; p < 0.001) and high-temperature food/beverages (OR 3.68; 95% CI 1.20–8.99; p < 0.001). Conclusions: Consumption of a diet in accordance with dietary recommendations was associated with a lower risk of ESCC. Preventive strategies to reduce the ESCC risk in high-risk regions of the world should focus on overall dietary patterns and dietary habits in order to be effective.

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“…4 Subsequently, the frequency of K3326X was found to be higher in patients with familial pancreatic cancer, lung cancer, and esophageal squamous cell carcinoma compared with control populations. [5][6][7] Although our patient's history strongly suggested the presence of familial neoplasias, the molecular analysis of BRCA1 and BRCA2 did not identify any previously defined causative mutation. Instead, it revealed the BRCA2 K3326X variant, which causes a premature stop codon and the loss of 93 amino acids at the protein's C-terminus.…”

mentioning

confidence: 57%