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Biomedicines
Special Issues
Hereditary Breast Cancer and BRCA Genes
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Hereditary Breast Cancer and BRCA Genes

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cancer Biology and Oncology".

Deadline for manuscript submissions: 30 September 2024 | Viewed by 1092

Special Issue Editor

Dr. Chihwan David Cha

E-Mail Website
Guest Editor
Department of Surgery, Hanyang University College of Medicine, Seoul, Republic of Korea
Interests: hereditary breast cancer; male breast cancer; lymph node metastasis; tumor microenvironment
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

BRCA 1 and 2 are tumor suppressor genes that play an integral role in responding to cellular stress via the activation of DNA repair processes. Individuals with BRCA mutations are at an increased lifetime risk of developing breast and ovarian cancers. Although recent studies on BRCA revealed the molecular mechanism by which proteins including RAD51 and PALB2 control homologous recombination, there are still many questions to be addressed, such as locating the mechanism associated with breast carcinogenesis.

This Special Issue aims to respond to this clinically unmet need, with translational research focused on evaluating the underlying biology of this distinct genetic mutation with the goal of developing improved therapeutic strategies for the management of this patient population.

Dr. Chihwan David Cha
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. Biomedicines 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

  • breast cancer
  • molecular biomarker
  • BRCA mutation
  • carcinogenesis

Published Papers (1 paper)

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Review

15 pages, 583 KiB  
Review
Role of Breast Cancer Risk Estimation Models to Identify Women Eligible for Genetic Testing and Risk-Reducing Surgery
by Azzurra Irelli, Leonardo Valerio Patruno, Sofia Chiatamone Ranieri, Daniela Di Giacomo, Sara Malatesta, Edoardo Alesse, Alessandra Tessitore and Katia Cannita
Biomedicines 2024, 12(4), 714; https://doi.org/10.3390/biomedicines12040714 - 22 Mar 2024
Viewed by 937
Abstract
Hereditary breast and ovarian cancer (HBOC) syndrome is responsible for approximately 10% of breast cancers (BCs). The HBOC gene panel includes both high-risk genes, i.e., a four times higher risk of BC (BRCA1, BRCA2, PALB2, CDH1, PTEN, [...] Read more.
Hereditary breast and ovarian cancer (HBOC) syndrome is responsible for approximately 10% of breast cancers (BCs). The HBOC gene panel includes both high-risk genes, i.e., a four times higher risk of BC (BRCA1, BRCA2, PALB2, CDH1, PTEN, STK11 and TP53), and moderate-risk genes, i.e., a two to four times higher risk of BC (BARD1, CHEK2, RAD51C, RAD51D and ATM). Pathogenic germline variants (PGVs) in HBOC genes confer an absolute risk of BC that changes according to the gene considered. We illustrate and compare different BC risk estimation models, also describing their limitations. These models allow us to identify women eligible for genetic testing and possibly to offer surgical strategies for primary prevention, i.e., risk-reducing mastectomies and salpingo-oophorectomies. Full article
(This article belongs to the Special Issue Hereditary Breast Cancer and BRCA Genes)
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