{"title":"一项关于土耳其 2475 名乳腺癌患者（包括 1444 例）基因型变异/人口统计学模式的多中心研究。","authors":"Ibrahim Boga, Sebnem Ozemri Sag, Nilgun Duman, Sevda Yesim Ozdemir, Mahmut Cerkez Ergoren, Kubilay Dalci, Cem Mujde, Cem Kaan Parsak, Cagla Rencuzogullari, Ozge Sonmezler, Orcun Yalav, Adem Alemdar, Lamiya Aliyeva, Ozlem Bozkurt, Sibel Cetintas, Erdem Cubukcu, Adem Deligonul, Berkcan Dogan, Cemre Ornek Erguzeloglu, Turkkan Evrensel, Sehsuvar Gokgoz, Kazim Senol, Sahsine Tolunay, Esra Akyurek, Neslihan Basgoz, Nuriye Gökçe, Bilge Dundar, Figen Ozturk, Duygu Taskin, Mercan Demirtas, Murat Cag, Omer Diker, Polat Olgun, Sevcan Tug Bozdogan, Munis Dundar, Atil Bisgin, Sehime Gulsun Temel","doi":"10.4274/ejbh.galenos.2023.2023-2-5","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and analysis of two genes, <i>BRCA1</i> and <i>BRCA2</i>, which are strongly associated with BC, are included in these criteria. The aim of this study was to compare BC index cases with non-BC individuals in terms of genotype and diagnostic features to investigate the genotype/demographic information association.</p><p><strong>Materials and methods: </strong>Mutational analyses for the <i>BRCA1/BRCA2</i> genes was performed in 2475 individuals between 2013-2022 from collaborative centers across Turkey, of whom 1444 with BC were designated as index cases.</p><p><strong>Results: </strong>Overall, mutations were identified in 17% (421/2475), while the percentage of mutation carriers in cases of BC was similar, 16.6% (239/1444). <i>BRCA1/BRCA2</i> gene mutations were detected in 17.8% (131/737) of familial cases and 12% (78/549) of sporadic cases. Mutations in <i>BRCA1</i> were found in 4.9%, whereas 12% were in <i>BRCA2</i> (p<0.05). Meta-analyses were performed to compare these results with other studies of Mediterranean-region populations.</p><p><strong>Conclusion: </strong>Patients with <i>BRCA2</i> mutations were significantly more common than those with <i>BRCA1</i> mutations. In sporadic cases, there was a lower proportion with <i>BRCA1/BRCA2</i> variants, as expected, and these results were consistent with the data of Mediterranean-region populations. However, the present study, because of the large sample size, revealed more robust findings than previous studies. These findings may be helpful in facilitating the clinical management of BC for both familial and non-familial cases.</p>","PeriodicalId":11885,"journal":{"name":"European journal of breast health","volume":"19 3","pages":"235-252"},"PeriodicalIF":0.0000,"publicationDate":"2023-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10320635/pdf/ejbh-19-235.pdf","citationCount":"0","resultStr":"{\"title\":\"A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.\",\"authors\":\"Ibrahim Boga, Sebnem Ozemri Sag, Nilgun Duman, Sevda Yesim Ozdemir, Mahmut Cerkez Ergoren, Kubilay Dalci, Cem Mujde, Cem Kaan Parsak, Cagla Rencuzogullari, Ozge Sonmezler, Orcun Yalav, Adem Alemdar, Lamiya Aliyeva, Ozlem Bozkurt, Sibel Cetintas, Erdem Cubukcu, Adem Deligonul, Berkcan Dogan, Cemre Ornek Erguzeloglu, Turkkan Evrensel, Sehsuvar Gokgoz, Kazim Senol, Sahsine Tolunay, Esra Akyurek, Neslihan Basgoz, Nuriye Gökçe, Bilge Dundar, Figen Ozturk, Duygu Taskin, Mercan Demirtas, Murat Cag, Omer Diker, Polat Olgun, Sevcan Tug Bozdogan, Munis Dundar, Atil Bisgin, Sehime Gulsun Temel\",\"doi\":\"10.4274/ejbh.galenos.2023.2023-2-5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and analysis of two genes, <i>BRCA1</i> and <i>BRCA2</i>, which are strongly associated with BC, are included in these criteria. The aim of this study was to compare BC index cases with non-BC individuals in terms of genotype and diagnostic features to investigate the genotype/demographic information association.</p><p><strong>Materials and methods: </strong>Mutational analyses for the <i>BRCA1/BRCA2</i> genes was performed in 2475 individuals between 2013-2022 from collaborative centers across Turkey, of whom 1444 with BC were designated as index cases.</p><p><strong>Results: </strong>Overall, mutations were identified in 17% (421/2475), while the percentage of mutation carriers in cases of BC was similar, 16.6% (239/1444). <i>BRCA1/BRCA2</i> gene mutations were detected in 17.8% (131/737) of familial cases and 12% (78/549) of sporadic cases. Mutations in <i>BRCA1</i> were found in 4.9%, whereas 12% were in <i>BRCA2</i> (p<0.05). Meta-analyses were performed to compare these results with other studies of Mediterranean-region populations.</p><p><strong>Conclusion: </strong>Patients with <i>BRCA2</i> mutations were significantly more common than those with <i>BRCA1</i> mutations. In sporadic cases, there was a lower proportion with <i>BRCA1/BRCA2</i> variants, as expected, and these results were consistent with the data of Mediterranean-region populations. However, the present study, because of the large sample size, revealed more robust findings than previous studies. These findings may be helpful in facilitating the clinical management of BC for both familial and non-familial cases.</p>\",\"PeriodicalId\":11885,\"journal\":{\"name\":\"European journal of breast health\",\"volume\":\"19 3\",\"pages\":\"235-252\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-07-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10320635/pdf/ejbh-19-235.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European journal of breast health\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4274/ejbh.galenos.2023.2023-2-5\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/7/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European journal of breast health","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4274/ejbh.galenos.2023.2023-2-5","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/7/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
目的：乳腺癌（BC）是女性最常见的癌症类型，而且可能会遗传，主要是常染色体显性遗传。乳腺癌的临床诊断依赖于已公布的诊断标准，而对与乳腺癌密切相关的两个基因 BRCA1 和 BRCA2 的分析被纳入了这些标准。本研究的目的是比较 BC 指征病例与非 BC 患者的基因型和诊断特征，以研究基因型与人口统计学信息的关联：2013-2022年间，对来自土耳其合作中心的2475名患者进行了BRCA1/BRCA2基因突变分析，其中1444名BC患者被指定为指标病例：结果：总体而言，17%（421/2475）的患者发现了基因突变，而 BC 病例中基因突变携带者的比例与此相似，均为 16.6%（239/1444）。在17.8%（131/737）的家族性病例和12%（78/549）的散发性病例中发现了BRCA1/BRCA2基因突变。4.9% 的患者发现 BRCA1 基因突变，而 12% 的患者发现 BRCA2 基因突变（p 结论：BRCA2 基因突变的患者在家族病例中占 17.8%，在散发性病例中占 12%（78/549）：BRCA2 基因突变的患者明显多于 BRCA1 基因突变的患者。在散发性病例中，BRCA1/BRCA2变异的比例较低，这也是意料之中的，这些结果与地中海地区人群的数据一致。不过，由于样本量大，本研究的结果比以往的研究更为可靠。这些发现可能有助于促进家族性和非家族性 BC 病例的临床管理。
A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.
Objective: Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and analysis of two genes, BRCA1 and BRCA2, which are strongly associated with BC, are included in these criteria. The aim of this study was to compare BC index cases with non-BC individuals in terms of genotype and diagnostic features to investigate the genotype/demographic information association.
Materials and methods: Mutational analyses for the BRCA1/BRCA2 genes was performed in 2475 individuals between 2013-2022 from collaborative centers across Turkey, of whom 1444 with BC were designated as index cases.
Results: Overall, mutations were identified in 17% (421/2475), while the percentage of mutation carriers in cases of BC was similar, 16.6% (239/1444). BRCA1/BRCA2 gene mutations were detected in 17.8% (131/737) of familial cases and 12% (78/549) of sporadic cases. Mutations in BRCA1 were found in 4.9%, whereas 12% were in BRCA2 (p<0.05). Meta-analyses were performed to compare these results with other studies of Mediterranean-region populations.
Conclusion: Patients with BRCA2 mutations were significantly more common than those with BRCA1 mutations. In sporadic cases, there was a lower proportion with BRCA1/BRCA2 variants, as expected, and these results were consistent with the data of Mediterranean-region populations. However, the present study, because of the large sample size, revealed more robust findings than previous studies. These findings may be helpful in facilitating the clinical management of BC for both familial and non-familial cases.
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