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Functional Role of BRCA 1 and 2 in Tissue Maintenance...
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Functional Role of BRCA 1 and 2 in Tissue Maintenance and Neoplasia

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (20 July 2020) | Viewed by 8134

Special Issue Editor

Prof. Dr. Thorarinn Gudjonsson

E-Mail Website
Guest Editor
Stem Cell Research Unit, Biomedical Center, Department of Laboratory Hematology, University of Iceland and Landspitali University Hospital, Reykjavik, Iceland
Interests: stem cells in breast morphogenesis and cancer

Special Issue Information

Dear Colleagues,

Breast cancer 1 and 2 susceptibility genes (BRCA1 and BRCA2) are important tumor suppressor genes that have a major impact on the mechanisms of genome protection. Their proteins are important caretakers in cells and tissue maintenance through their role in error-free DNA repair through homologous recombination. Mutations in BRCA1 and BRCA2 are known to predispose and cause breast cancer and other forms of cancer such as ovarian, pancreas and prostate cancer. These mutations can be both somatic and hereditary (germline), which affect individuals and families and induce a high incidence of certain cancer types, including breast cancer.

This Special Issue will highlight the recent advances in BRCA1 and BRCA2 cancer research, focusing on both somatic and germline mutations, the transcription regulation of BRCA proteins and their functional role within distinct subtypes of breast and other cancer types in tissue maintenance and stem cell biology.

We welcome the submission of reviews, perspectives, short communications, and research articles.

Prof. Thorarinn Gudjonsson
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • transcription regulation of BRCA genes
  • tissue stem cells
  • somatic and germline BRCA mutations
  • breast cancer
  • BRCA target tissues
  • BRCA interacting proteins

Published Papers (2 papers)

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Research

9 pages, 676 KiB  
Article
Increased Overall Mortality Even after Risk Reducing Surgery for BRCA-Positive Women in Western Sweden
by Anna Öfverholm, Zakaria Einbeigi, Antonia Wigermo, Erik Holmberg and Per Karsson
Genes 2019, 10(12), 1046; https://doi.org/10.3390/genes10121046 - 16 Dec 2019
Cited by 3 | Viewed by 2702
Abstract
Women with BRCA variants have a high lifetime risk of developing breast and ovarian cancer. The aim of this study was to investigate the standard incidence ratios (SIR) for breast and ovarian cancer and standard mortality ratios (SMR) in a population-based cohort of [...] Read more.
Women with BRCA variants have a high lifetime risk of developing breast and ovarian cancer. The aim of this study was to investigate the standard incidence ratios (SIR) for breast and ovarian cancer and standard mortality ratios (SMR) in a population-based cohort of women in Western Sweden, under surveillance and after risk reducing surgery. Women who tested positive for a BRCA variant between 1995–2016 (n = 489) were prospectively registered and followed up for cancer incidence, risk reducing surgery and mortality. The Swedish Cancer Register was used to compare breast and ovarian cancer incidence and mortality with and without risk reducing surgery for women with BRCA variants in comparison to women in the general population. SIR for breast cancer under surveillance until risk-reducing mastectomy (RRM) was 14.0 (95% CI 9.42–20.7) and decreased to 1.93 (95% CI 0.48–7.7) after RRM. The SIR for ovarian cancer was 124.6 (95% CI 59.4–261.3) under surveillance until risk reducing salpingo-oophorectomy (RRSO) and decreased to 13.5 (95% CI 4.34–41.8) after RRSO. The SMR under surveillance before any risk reducing surgery was 5.56 (95% 2.09–14.8) and after both RRM and RRSO 4.32 (95% CI 1.62–11.5). Women with cancer diagnoses from the pathology report after risk reducing surgery were excluded from the analyses. Risk reducing surgery reduced the incidence of breast and ovarian cancer in women with BRCA variants. However, overall mortality was significantly increased in comparison to the women in the general population and remained elevated even after risk reducing surgery. These findings warrant further research regarding additional measures for these women. Full article
(This article belongs to the Special Issue Functional Role of BRCA 1 and 2 in Tissue Maintenance and Neoplasia)
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15 pages, 12664 KiB  
Article
The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability
by Adalgeir Arason, Bjarni A Agnarsson, Gudrun Johannesdottir, Oskar Th Johannsson, Bylgja Hilmarsdottir, Inga Reynisdottir and Rosa B Barkardottir
Genes 2019, 10(11), 882; https://doi.org/10.3390/genes10110882 - 01 Nov 2019
Cited by 10 | Viewed by 5022
Abstract
Mutations in BRCA1 result in predisposal to breast and ovarian cancers, but many variants exist with unknown clinical significance (VUS). One is BRCA1 c.4096+3A>G, which affects production of the full-length BRCA1 transcript, while augmenting transcripts lacking most or all of exon 11. Nonetheless, [...] Read more.
Mutations in BRCA1 result in predisposal to breast and ovarian cancers, but many variants exist with unknown clinical significance (VUS). One is BRCA1 c.4096+3A>G, which affects production of the full-length BRCA1 transcript, while augmenting transcripts lacking most or all of exon 11. Nonetheless, homozygosity of this variant has been reported in a healthy woman. We saw this variant cosegregate with breast and ovarian cancer in several family branches of four Icelandic pedigrees, with instances of phenocopies and a homozygous woman with lung cancer. We found eight heterozygous carriers (0.44%) in 1820 unselected breast cancer cases, and three (0.15%) in 1968 controls (p = 0.13). Seeking conclusive evidence, we studied tumors from carriers in the pedigrees for wild-type-loss of heterozygosity (wtLOH) and BRCA1-characteristic prevalence of estrogen receptor (ER) negativity. Of 15 breast and six ovarian tumors, wtLOH occurred in nine breast and all six ovarian tumours, and six of the nine breast tumors with wtLOH were ER-negative. These data accord with a pathogenic BRCA1-mutation. Our findings add to the current knowledge of BRCA1, and the role of its exon 11 in cancer pathogenicity, and will be of use in clinical genetic counselling. Full article
(This article belongs to the Special Issue Functional Role of BRCA 1 and 2 in Tissue Maintenance and Neoplasia)
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