Gervas Polina, Molokov Aleksey, Babyshkina Nataliya, Zherebnova Anna, Choynzonov Evgeny, Cherdyntseva Nadezda
Cancer Research Institute, Tomsk National Research Medical Center of the Russian Academy of Science, Tomsk, Russia.
National Tomsk State University, Tomsk, Russia.
Mol Biol Rep. 2024 Dec 7;52(1):42. doi: 10.1007/s11033-024-10133-3.
Hereditary breast cancer is an autosomal dominant disease caused by variants in genes such as BRCA1/2, RAD51, ATM, BRIP1, and others. In a previous study using whole exome sequencing, we identified a germline variant of the LGR4 gene (rs34804482, NM_018490.5(LGR4):c.2531 A > G (p.Asp844Gly)) in a young Tuvan breast cancer patient (belonging to the Turkic-speaking tribes of Central Asia). The aim of this study was to determine the frequency of the variant of the LGR4 gene NM_018490.5(LGR4):c.2531 A > G (p.Asp844Gly) in ethnic groups of West Siberia using the PCR-RT method.
The study involved 735 breast cancer patients from ethnic groups in Siberia, median age at diagnosis of 43 ± 15.6 years. The control group consisted of 727 healthy women from Siberia, median age of 43.05 ± 13.5 years.
The frequency of this variant (rs34804482) was 0.015 in Russian, 0.022 in Buryat, and 0.069 in Tuvan breast cancer patients. In Tuvan women with breast cancer, the frequency of the LGR4 gene variant was significantly higher than in Russian BC patients (0.069 versus 0.015, X = 8.153, p = 0.005). The frequency of the LGR4 gene variant (rs34804482) in healthy Tuvan women was significantly higher than in healthy Russian women (0.066 versus 0.016, X = 6.368, p = 0.012). The variant frequency in healthy Russians was close to that in Europeans (0.016 versus 0.0219).
We found no statistically significant differences in the rs34804482 frequency between breast cancer patients and healthy individuals in the ethnic groups studied. The highest frequency of this missense germline variant was observed among Tuvans.
遗传性乳腺癌是一种常染色体显性疾病，由BRCA1/2、RAD51、ATM、BRIP1等基因的变异引起。在之前一项使用全外显子测序的研究中，我们在一名年轻的图瓦族乳腺癌患者（属于中亚说突厥语的部落）中鉴定出LGR4基因的一个种系变异（rs34804482，NM_018490.5(LGR4):c.2531 A>G (p.Asp844Gly)）。本研究的目的是使用PCR-RT方法确定西西伯利亚不同种族群体中LGR4基因变异NM_018490.5(LGR4):c.2531 A>G (p.Asp844Gly)的频率。
该研究纳入了735名来自西伯利亚不同种族的乳腺癌患者，诊断时的中位年龄为43±15.6岁。对照组由727名来自西伯利亚的健康女性组成，中位年龄为43.05±13.5岁。
该变异（rs34804482）在俄罗斯族乳腺癌患者中的频率为0.015，在布里亚特族中为0.022，在图瓦族乳腺癌患者中为0.069。在图瓦族乳腺癌女性中，LGR4基因变异的频率显著高于俄罗斯族乳腺癌患者（0.069对0.015，X=8.153，p=0.005）。健康图瓦族女性中LGR4基因变异（rs34804482）的频率显著高于健康俄罗斯族女性（0.066对0.016，X=6.368，p=0.012）。健康俄罗斯族中的变异频率与欧洲人相近（0.016对0.0219）。
在研究的种族群体中，我们发现乳腺癌患者和健康个体之间rs34804482频率没有统计学上的显著差异。这种错义种系变异在图瓦族中出现的频率最高。
