Background/Objectives: Cancer risk-reducing strategies in Ashkenazi women carrying founder variants have a cost-effective effect on reducing cancer morbidity and mortality. The British and US guidelines recommendBRCA1/2(BRCA) screening among Ashkenazi Jewish people to identify high-risk individuals.BRCAstatus has not been investigated yet in the Jewish community of Rome. Methods: Patients were selected from the Family Cancer Clinic of the Umberto I University Hospital of Rome, and 38 unrelated families (28 of Roman Jewish and 10 of Libyan Jewish origin) were enrolled, comprising 44 subjects diagnosed with breast and/or ovarian cancer. Genetic counseling and germlineBRCAtesting were conducted. Haplotype analysis was performed. Results: Of the probands, 26.5% (9/34) from 7/28 unrelated families (25%) in the Jewish community of Rome harbored the knownBRCA2c.7007G>C, p. (Arg2336Pro) variant (rs28897743). Genetic analysis of the four unrelated carriers revealed a shared haplotype, indicating a potential founder effect. The length of the haplotype might confirm the Roman community to be the oldest among Jewish communities in Europe. Conclusions: This study indicates theBRCA2 c.7007G>C variant found in the Jewish community of Rome to be a founder variant. Finally, we underline a pressing need to address the increased risk of carryingBRCAmutations among individuals with Jewish heritage, and to enhance genetic counseling and screening efforts in ethnic minorities that are not otherwise routinely reached.
背景/目的：对于携带始祖变异的阿什肯纳兹犹太女性而言，癌症风险降低策略在减少癌症发病率和死亡率方面具有成本效益。英国和美国指南建议对阿什肯纳兹犹太人进行BRCA1/2（BRCA）筛查，以识别高风险个体。目前尚未对罗马犹太社区的BRCA状态进行研究。方法：从罗马翁贝托一世大学医院家族癌症诊所选取患者，共纳入38个无血缘关系的家庭（28个来自罗马犹太裔，10个来自利比亚犹太裔），包括44名被诊断为乳腺癌和/或卵巢癌的受试者。进行了遗传咨询和胚系BRCA检测，并实施了单倍型分析。结果：在罗马犹太社区的28个无血缘关系家庭中，有7个家庭（25%）的先证者中26.5%（9/34）携带已知的BRCA2 c.7007G>C，p.（Arg2336Pro）变异（rs28897743）。对四个无血缘关系的携带者进行的遗传分析显示存在共享单倍型，表明可能存在始祖效应。该单倍型的长度可能证实罗马社区是欧洲犹太社区中最古老的群体。结论：本研究表明在罗马犹太社区发现的BRCA2 c.7007G>C变异是一种始祖变异。最后，我们强调迫切需要关注具有犹太血统的个体携带BRCA突变的风险增加问题，并加强对其他常规未覆盖的少数民族的遗传咨询和筛查工作。
肿瘤(癌症)患者之家