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. 2021 May 11;11:655709. doi: 10.3389/fonc.2021.655709

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Copyright © 2021 Li, Han, Zhang, Luo, Wang, Wang, Wang, Xia, Wang, Wei, Ma, Li and Guo

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Identification of BRCA1:c.5470_5477del as the founder mutation in Henan OC patients. Protein paint shows the pathogenic and likely pathogenic mutations detected in BRCA1 (A) and BRCA2 (B) from 530 Henan OC patients. (C) A schematic diagram illustrates the genomic location of BRCA1 and its flanking STR markers selected for haplotype analysis. (D) Haplotype analysis of six STR markers across 8 BRCA1:c.5470_5477del (p.lle1824fs) carriers (blue) and seven BRCA1:c.981_982del (p.Cys328fs) carriers (orange). STR loci are indicated on x-axis and the proportion of patients sharing the same allele is indicated on Y-axis. (E) A map shows the places of origin of the patients in this OC cohort.