Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population

المؤلفون المشاركون

Chen, Jiaping
Jiang, Yue
Jin, Guangfu
Ma, Hongxia
Hu, Zhibin
Shen, Hongbing
Dai, Juncheng
Tian, Ting
Yu, Chengxiao
Zhou, Wen
Yang, Junzhe
Wang, Yifeng
Wen, Yang

المصدر

BioMed Research International

العدد

المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-11، 11ص.

الناشر

Hindawi Publishing Corporation

تاريخ النشر

2020-08-17

دولة النشر

مصر

عدد الصفحات

11

التخصصات الرئيسية

الطب البشري

الملخص EN

BRCA1 and BRCA2 as important DNA repair genes have been thoroughly investigated in abundant studies.

The potential relationships of BRCA1/2 pathogenic variants between multicancers have been verified in Caucasians but few in Chinese.

In this study, we performed a two-stage study to screen BRCA1/2 pathogenic variants or variants of uncertain significance (VUS) with 7580 cancer cases and 4874 cancer-free controls, consisting of a discovery stage with 70 familial breast cancer cases and a subsequent validation stage with 7510 cases (3217 breast cancer, 1133 cervical cancer, 2044 hepatocellular carcinoma, and 1116 colorectal cancer).

48 variants were obtained from 70 familial breast cancer cases after BRCA1/2 exon detection, and finally, 20 pathogenic variants or VUS were selected for subsequent validation.

Four recurrent variants in sporadic cases (BRCA1 c.4801A>T, BRCA1 c.3257del, BRCA1 c.440del, and BRCA2 c.7409dup) were identified and three of them were labeled Class 5 by ENIGMA.

Two variants (BRCA1 c.3257del and c.440del) were specific in breast cancer cases, while BRCA2 c.7409dup and c.4307T>C were detected in two hepatocellular carcinoma patients and the BRCA1 c.4801A>T variant in one cervical cancer patient, respectively.

Moreover, BRCA1 c.3257del was the most frequent variant observed in Chinese sporadic breast cancer and showed increased proliferation of BRCA1c.3257del-overexpressing triple-negative breast cancer cell lines (MDA-MB-231) in vitro.

In addition to the known founder deleterious mutations, our findings highlight that the recurrently pathogenic variants in breast cancer cases could be taken as candidate genetic screening loci for a more efficient genetic screening of the Chinese population.

نمط استشهاد جمعية علماء النفس الأمريكية (APA)

Jiang, Yue& Tian, Ting& Yu, Chengxiao& Zhou, Wen& Yang, Junzhe& Wang, Yifeng…[et al.]. 2020. Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population. BioMed Research International،Vol. 2020, no. 2020, pp.1-11.
https://search.emarefa.net/detail/BIM-1136145

نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)

Jiang, Yue…[et al.]. Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population. BioMed Research International No. 2020 (2020), pp.1-11.
https://search.emarefa.net/detail/BIM-1136145

نمط استشهاد الجمعية الطبية الأمريكية (AMA)

Jiang, Yue& Tian, Ting& Yu, Chengxiao& Zhou, Wen& Yang, Junzhe& Wang, Yifeng…[et al.]. Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-11.
https://search.emarefa.net/detail/BIM-1136145

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references

رقم السجل

BIM-1136145