Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2021 Jan 28;11:2409. doi: 10.1038/s41598-021-81106-w

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

PMC Copyright notice

Investigating the c.1516G > T;p.E506* MRE11A variant in two unrelated HBOC patients of French-Canadian origins. (a) (i) and (ii) H&E staining of the two probands’ breast (invasive ductal carcinoma; IDC) and ovarian tumors (high grade serous carcinoma; HGSC), respectively. (iii) and (iv) Immunohistochemistry staining demonstrating the MRE11A protein expression levels in the two probands’ tumors. (b) Schematic representation of the identified variant’s position within the MRE11A protein. (c) Cycloheximide chase assay showing that the identified variant undergoes nonsense-mediated mRNA decay, as denoted by the arrow, in the Family A proband-derived lymphoblastoid cell line. (d,e) Pedigrees of Family A and B, respectively. Carriers of c.1516G > T;p.E506* MRE11A are indicated by + and probands are indicated by arrows. (f) Contribution of the different COSMIC single base substitution (SBS) mutational signatures. The SBS3, the Homologous Repair Deficiency (HRD)-associated mutational signature, is indicated by an arrow. (Pedigrees were generated by the PhenoTips opensource https://phenotips.com/index.html).