PDF(Pubmed)
Abstract：
UNASSIGNED: Certain germline pathogenic variants (PVs), known as founder mutations, have been frequently observed in specific regions and ethnic groups. In Japan, several pathogenic variants of BRCA1/2 have been identified as founder mutations, with their distribution varying across different regions. This retrospective study aimed to further investigate the detailed distribution and correlation between genotype and clinical features among breast cancer patients.
UNASSIGNED: This study was conducted at Kobe University Hospital and three collaborating institutions. It included breast cancer patients who underwent BRCA1/2 genetic testing between July 1, 2018, and March 31, 2021, and were found to have germline PVs. Clinical characteristics and breast cancer subtypes were compared between carriers of BRCA2 c.5576_5579del and those with other PVs. Additionally, the detection rate of BRCA2 c.5576_5579del was compared with that observed in a previous report.
UNASSIGNED: A total of 38 breast cancer patients were included; PVs in BRCA1 and BRCA2 were detected in 12 and 26 patients, respectively, 12 of whom were BRCA2 c.5576_5579del carriers. BRCA2 c.5576_5579del carriers were more likely to develop triple negative breast cancers among all BRCA2 PV carriers. BRCA2 c.5576_5579del accounted for 30.8% of the PVs detected, with a particularly high frequency of 72.7% at Kakogawa Central City Hospital.
UNASSIGNED: BRCA2 c.5576_5579del was detected with a particularly high frequency in Hyogo Prefecture, especially in Kakogawa city. In the future, a survey of the distribution of the BRCA2 c.5576_5579del carriers may provide more clarity regarding their localization.
UNASSIGNED: This study was conducted at Kobe University Hospital and three collaborating institutions. It included breast cancer patients who underwent BRCA1/2 genetic testing between July 1, 2018, and March 31, 2021, and were found to have germline PVs. Clinical characteristics and breast cancer subtypes were compared between carriers of BRCA2 c.5576_5579del and those with other PVs. Additionally, the detection rate of BRCA2 c.5576_5579del was compared with that observed in a previous report.
UNASSIGNED: A total of 38 breast cancer patients were included; PVs in BRCA1 and BRCA2 were detected in 12 and 26 patients, respectively, 12 of whom were BRCA2 c.5576_5579del carriers. BRCA2 c.5576_5579del carriers were more likely to develop triple negative breast cancers among all BRCA2 PV carriers. BRCA2 c.5576_5579del accounted for 30.8% of the PVs detected, with a particularly high frequency of 72.7% at Kakogawa Central City Hospital.
UNASSIGNED: BRCA2 c.5576_5579del was detected with a particularly high frequency in Hyogo Prefecture, especially in Kakogawa city. In the future, a survey of the distribution of the BRCA2 c.5576_5579del carriers may provide more clarity regarding their localization.
摘要：
■某些种系致病变种（PVs），被称为创始人突变，在特定地区和民族中经常观察到。在日本,BRCA1/2的几种致病变体已被鉴定为创始人突变，它们在不同地区的分布不同。这项回顾性研究旨在进一步探讨乳腺癌患者基因型与临床特征的详细分布和相关性。
■这项研究是在神户大学医院和三个合作机构进行的。它包括在2018年7月1日至2021年3月31日期间接受BRCA1/2基因检测的乳腺癌患者，并被发现患有种系PV。比较了BRCA2c.5576_5579del携带者与其他PV携带者之间的临床特征和乳腺癌亚型。此外,将BRCA2c.5576_5579del的检出率与以前的报告中观察到的检出率进行了比较.
■共纳入38例乳腺癌患者；在12例和26例患者中检测到BRCA1和BRCA2中的PVs，分别,其中12人是BRCA2c.5576_5579del携带者。在所有BRCA2PV携带者中，BRCA2c.5576_5579del携带者更有可能发展为三阴性乳腺癌。BRCA2c.5576_5579del占检测到的PV的30.8%，在Kakogawa中央城市医院的频率特别高，为72.7％。
■在兵库县以特别高的频率检测到BRCA2c.5576_5579del，尤其是在Kakogawa市.在未来,对BRCA2c.5576_5579del载体分布的调查可能会使它们的定位更加清晰。
■这项研究是在神户大学医院和三个合作机构进行的。它包括在2018年7月1日至2021年3月31日期间接受BRCA1/2基因检测的乳腺癌患者，并被发现患有种系PV。比较了BRCA2c.5576_5579del携带者与其他PV携带者之间的临床特征和乳腺癌亚型。此外,将BRCA2c.5576_5579del的检出率与以前的报告中观察到的检出率进行了比较.
■共纳入38例乳腺癌患者；在12例和26例患者中检测到BRCA1和BRCA2中的PVs，分别,其中12人是BRCA2c.5576_5579del携带者。在所有BRCA2PV携带者中，BRCA2c.5576_5579del携带者更有可能发展为三阴性乳腺癌。BRCA2c.5576_5579del占检测到的PV的30.8%，在Kakogawa中央城市医院的频率特别高，为72.7％。
■在兵库县以特别高的频率检测到BRCA2c.5576_5579del，尤其是在Kakogawa市.在未来,对BRCA2c.5576_5579del载体分布的调查可能会使它们的定位更加清晰。
