PDF(Pubmed)
Abstract：
UNASSIGNED: The spectrum of BRCA1 and BRCA2 mutations varies among populations; however, some mutations may be frequent in particular ethnic groups due to the \"founder\" effect. The c.3700_3704del mutation was previously described as a recurrent BRCA1 variant in Eastern European countries. This study aimed to investigate the frequency of c.3700_3704del BRCA1 mutation in Albanian breast and ovarian cancer patients from North Macedonia and Kosovo.
UNASSIGNED: A total of 327 patients with invasive breast and/or ovarian cancer (111 Albanian women from North Macedonia and 216 from Kosovo) were screened for 13 recurrent BRCA1/2 mutations. Targeted NGS with a panel of 94 cancer-associated genes including BRCA1 and BRCA2 was performed in a selected group of 118 patients.
UNASSIGNED: We have identified 21 BRCA1/2 pathogenic variants, 17 (14 BRCA1 and 3 BRCA2) in patients from Kosovo (7.9%) and 4 (1 BRCA1 and 3 BRCA2) in patients from North Macedonia (3.6%). All BRCA1/2 mutations were found in one patient each, except for c.3700_3704del BRCA1 mutation which was observed in 14 unrelated families, all except one originating from Kosovo. The c.3700_3704del mutation accounts for 93% of BRCA1 mutation positive cases and is present with a frequency of 6% among breast cancer patients from Kosovo.
UNASSIGNED: This is the first report of BRCA1/2 mutations among breast and ovarian cancer patients from Kosovo. The finding that BRCA1 c.3700_3704del represents a founder mutation in Kosovo with the highest worldwide reported frequency supports the implementation of fast and low-cost screening protocol, regardless of the family history and even a pilot population-based screening in at-risk population.
UNASSIGNED: A total of 327 patients with invasive breast and/or ovarian cancer (111 Albanian women from North Macedonia and 216 from Kosovo) were screened for 13 recurrent BRCA1/2 mutations. Targeted NGS with a panel of 94 cancer-associated genes including BRCA1 and BRCA2 was performed in a selected group of 118 patients.
UNASSIGNED: We have identified 21 BRCA1/2 pathogenic variants, 17 (14 BRCA1 and 3 BRCA2) in patients from Kosovo (7.9%) and 4 (1 BRCA1 and 3 BRCA2) in patients from North Macedonia (3.6%). All BRCA1/2 mutations were found in one patient each, except for c.3700_3704del BRCA1 mutation which was observed in 14 unrelated families, all except one originating from Kosovo. The c.3700_3704del mutation accounts for 93% of BRCA1 mutation positive cases and is present with a frequency of 6% among breast cancer patients from Kosovo.
UNASSIGNED: This is the first report of BRCA1/2 mutations among breast and ovarian cancer patients from Kosovo. The finding that BRCA1 c.3700_3704del represents a founder mutation in Kosovo with the highest worldwide reported frequency supports the implementation of fast and low-cost screening protocol, regardless of the family history and even a pilot population-based screening in at-risk population.
摘要：
未经证实：BRCA1和BRCA2突变的谱因人群而异；然而，由于“创始人”效应，某些突变可能在特定种族中频繁发生。c.3700_3704del突变先前在东欧国家被描述为复发的BRCA1变体。这项研究旨在调查北马其顿和科索沃的阿尔巴尼亚乳腺癌和卵巢癌患者c.3700_3704delBRCA1突变的频率。
UNASSIGNED：共327例浸润性乳腺癌和/或卵巢癌患者（111名来自北马其顿的阿尔巴尼亚妇女和216名来自科索沃）进行了13例复发BRCA1/2突变的筛查。在一组选定的118名患者中进行了一组94个癌症相关基因（包括BRCA1和BRCA2）的靶向NGS。
未经鉴定：我们已经鉴定出21种BRCA1/2致病变种，科索沃患者17例（14BRCA1和3BRCA2）（7.9％），北马其顿患者4例（1BRCA1和3BRCA2）（3.6％）。所有BRCA1/2突变均在一名患者中发现，除了c.3700_3704delBRCA1突变在14个无关的家庭中观察到，除了一个来自科索沃。c.3700_3704del突变占BRCA1突变阳性病例的93％，在科索沃的乳腺癌患者中出现的频率为6％。
UNASSIGNED：这是来自科索沃的乳腺癌和卵巢癌患者中BRCA1/2突变的第一份报告。发现BRCA1c.3700_3704del代表了科索沃的创始人突变，全球报告频率最高，支持实施快速低成本的筛查协议，无论家族史，甚至在高危人群中进行基于人群的试点筛查。
UNASSIGNED：共327例浸润性乳腺癌和/或卵巢癌患者（111名来自北马其顿的阿尔巴尼亚妇女和216名来自科索沃）进行了13例复发BRCA1/2突变的筛查。在一组选定的118名患者中进行了一组94个癌症相关基因（包括BRCA1和BRCA2）的靶向NGS。
未经鉴定：我们已经鉴定出21种BRCA1/2致病变种，科索沃患者17例（14BRCA1和3BRCA2）（7.9％），北马其顿患者4例（1BRCA1和3BRCA2）（3.6％）。所有BRCA1/2突变均在一名患者中发现，除了c.3700_3704delBRCA1突变在14个无关的家庭中观察到，除了一个来自科索沃。c.3700_3704del突变占BRCA1突变阳性病例的93％，在科索沃的乳腺癌患者中出现的频率为6％。
UNASSIGNED：这是来自科索沃的乳腺癌和卵巢癌患者中BRCA1/2突变的第一份报告。发现BRCA1c.3700_3704del代表了科索沃的创始人突变，全球报告频率最高，支持实施快速低成本的筛查协议，无论家族史，甚至在高危人群中进行基于人群的试点筛查。
