Low-penetrance susceptibility variants and postmenopausal oestrogen receptor positive breast cancer

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dc.contributor.authorZgo¨ Z, Asuman O¨en_US
dc.contributor.authorDuygu, Fadi˙Me Mutlu I˙Cen_US
dc.contributor.authorRk, Ays¸Egu¨ L Yu¨ Kseltu¨en_US
dc.contributor.authorAmli, Hale Sen_US
dc.contributor.authorO¨ Ztu¨ Rk, Kuyas¸ Heki˙Mleren_US
dc.contributor.authorKan, Zuhal Basen_US
dc.date.accessioned2020-11-18T10:21:09Z
dc.date.available2020-11-18T10:21:09Z
dc.date.issued2020-02
dc.description.abstractThe risk of breast cancer (BC) in women is high and many factors including genetic factors increase the risk for the disease. It is revealed that the variations of low-penetrance susceptibility genes are important for carcinogenesis as they interact with the environmental and hereditary factors. Recently, the list of BC-associated common single nucleotide polymorphisms (SNPs) and chromosomal loci in low-penetrance susceptibility genes have been expanded in genomewide association studies. FGFR2, LSP1, MAP3K1, TGFB1, TOX3, 2q35 and 8q loci variations are some examples for these common SNPs. These SNPs and their association with BC risk was investigated in many different populations. Therefore in this study, we aimed to evaluate low-penetrance susceptibility SNPs; namely FGFR2 rs1219648, rs2981579, rs2981582; MAP3K1 rs889312; TOX3 rs3803662; LSP1 rs909116, rs3817198 and SLC4A7 rs4973768 together, for the first time in Turkish postmenopausal oestrogen receptor positive BC cases. Following the DNA isolation, multiplex PCR and matrix-assisted laser desorption/ionization mass spectrometry with time of flight measurement (MALDI-TOF) based SNP analysis were performed. MAP3K1 rs889312 SNP demonstrated the strongest association with BC risk among the other low penetrant SNPs, it was also associated with BC risk in a dominant model. Only in a ressesive model, TOX3 rs3803662 was associated with BC risk. In addition, rs4973768 CC and rs909116 CC genotypes are correlated with higher tumour size which is not reported in the literature as yet; on the other hand there are no associations between any of the other SNP genotypes and clinopathological parameters. In our opinion, MAP3K1 rs889312 may be a good BC susceptibility biomarker candidate for Turkish population.en_US
dc.identifier.affiliationsKastamonu School of Medicine, Department of Medical Genetics, Kastamonu University, Kastamonu 37200, Turkeyen_US
dc.identifier.affiliationsSchool of Medicine, Department of Medical Genetics, Giresun University, Giresun 28200, Turkeyen_US
dc.identifier.affiliationsFazıl Boyner Faculty of Health Sciences, Department of Nutrition and Dietetics, Kastamonu University, Kastamonu 37200, Turkeyen_US
dc.identifier.affiliationsSchool of Veterinary Medicine, Department of Genetics, Uludag˘ University, 16059 Bursa, Turkeyen_US
dc.identifier.affiliationsSchool of Medicine, Department of Medical Genetics, Su¨leyman Demirel University, Isparta 32260, Turkeyen_US
dc.identifier.affiliationsDepartment of Medical Oncology, Acibadem Bursa Hospital, Bursa 16110, Turkeyen_US
dc.identifier.citationZgo¨ Z Asuman O¨, Duygu Fadi˙Me Mutlu I˙C, Rk Ays¸Egu¨ L Yu¨ Kseltu¨, Amli Hale S, O¨ Ztu¨ Rk Kuyas¸ Heki˙Mler, Kan Zuhal Bas. Low-penetrance susceptibility variants and postmenopausal oestrogen receptor positive breast cancer. Journal of Genetics. 2020 Feb; 99: 1-10en_US
dc.identifier.issn0022-1333
dc.identifier.issn0973-7731
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/215548
dc.languageenen_US
dc.publisherIndian Academy of Sciencesen_US
dc.relation.volume99en_US
dc.source.urihttps://doi.org/10.1007/s12041-019-1174-2en_US
dc.subjectlow penetranceen_US
dc.subjectsusceptibilityen_US
dc.subjectpolymorphismen_US
dc.subjectbreast cancer.en_US
dc.titleLow-penetrance susceptibility variants and postmenopausal oestrogen receptor positive breast canceren_US
dc.typeJournal Articleen_US
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