Identification of a <scp>BRCA</scp>2 mutation in a Turkish family with early‐onset breast cancer

Çelik, Elifnaz; Tekkuş, Kübra Ermiş; Akçay, İzzet Mehmet; Alkurt, Gizem; Ezbercı, Fikret; Doğanay, Gizem Dinler; Doğanay, Levent

doi:10.1002/ccr3.1625

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“…Breast cancer risk in mutation carriers is modified by several risk factors that cluster in families, including genetic modifiers of risk that influence mutation penetrance (Chenevix-Trench et al, 2007). One of the major risk factors is a germline mutation in BRCA1 and BRCA2 which have an important role in hereditary breast-ovarian cancer in different populations (Abdikhakimov, Mukaddas, Bakhtiyar, & Shahlo, 2016;Celik et al, 2018;Harris, Morrow, & Bonadonna, 1993;Shahabi et al, 2017). In the Tunisian population, several studies have evaluated the association of these mutations in hereditary breast cancer patients (Belaiba et al, 2018;Fourati et al, 2014;Mahfoudh et al, 2012;Riahi et al, 2015;Troudi et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

MICA‐129 Met/Val polymorphism could be a genetic biomarker for Familial Breast Cancer in the Tunisian population

Ouni

Chaaben

Ayari

et al. 2020

Int J Immunogenetics

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Identification of candidate genes associated with susceptibility of breast cancer can have a significant impact at a cancer management national healthcare systems level, making genetic testing more affordable and cost‐effective. We have previously shown that the major histocompatibility complex class I‐related chain A (MICA) was related to breast cancer and plays an important role in modulating immune response mechanisms through NKG2D receptor activation. Compared to our previous study, in this work, we recruited a new cohort composed of 354 unrelated Tunisian women affected by breast cancer and 380 age‐matched women as controls, all genotyped for MICA‐129 Met/Val (rs 1051792). Subsequently, we exanimated the distribution of this polymorphism in ten families. As a result, an association was found between the Val allele and Val/Val genotype and the risk of breast cancer (p = 2.5 × 10–15; OR = 2.40; p = 6.5 × 10–13; OR = 3.03, respectively). Stratified analysis with age and family history of cancer revealed an association between the Val/Val genotype and younger patients <40 years (p = .003; OR = 2.03). Among those patients having a family history of cancer, 68% had a Val/Val genotype (p = .02; OR = 1.82). In the family study, an analyse of pedigrees revealed that the majority of families showed the development of breast cancer at a young age. Moreover, all patients diagnosed with early‐onset breast cancer had a Val/Val genotype. Our results lead us to propose that this polymorphism may be an inherited genetic biomarker contributing to an increased breast cancer risk in Tunisian women.

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