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Breast Cancer Genetics: Diagnostic and Treatment 2022
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Breast Cancer Genetics: Diagnostic and Treatment 2022

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Genetic Diagnosis".

Deadline for manuscript submissions: closed (15 September 2022) | Viewed by 6547

Special Issue Editors

Dr. Carmen Criscitiello

E-Mail Website
Guest Editor
New Drugs and Early Drug Development for Innovative Therapies Division, IEO, European Institute of Oncology IRCCS, 20141 Milan, Italy
Interests: breast cancer; new drugs; clinical trials; translational research; immunotherapy
Special Issues, Collections and Topics in MDPI journals
Dr. Nicola Fusco

E-Mail Website
Co-Guest Editor
1. Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy
2. Division of Pathology, IRCCS European Institute of Oncology (IEO), Milan, Italy
Interests: translational research; breast cancer; biomarkers; immunology; molecular pathology; TILs; precision medicine
Special Issues, Collections and Topics in MDPI journals
Dr. Umberto Malapelle

E-Mail Website
Co-Guest Editor
Department of Public Health, University of Naples Federico II, Naples, Italy
Interests: predictive molecular pathology in solid tumors; next generation technologies in molecular biology; liquid biopsies; predictive oncology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

There are many options for treating hereditary breast cancers. Hereditary breast cancers are different from sporadic cancers in ways that can affect treatment choices. Genetic test results may influence some treatment decisions. The choice of treatment can be personalized based on the cancer type, stage, and genetics. An inherited gene can increase the risk of developing a second breast cancer; thus, strategies such as removing a woman’s breast or ovaries are intended to prevent a future cancer. However, women who have already been diagnosed with breast cancer must also consider how best to treat the existing tumor. There are numerous treatment options for the cancer patient; however, there are also implications of genetic test results on cancer prevention strategies for themselves and their family members. More patients are receiving genetic testing when they are diagnosed with breast cancer, with increasingly more sophisticated tests that include a panel of at least 30 different genes, each carrying different risks for future cancers.

In this Special Issue, we welcome reviews, reports of new methods, and original articles covering all aspects of breast cancer genetics from diagnostic to treatment.

Dr. Carmen Criscitiello
Prof. Dr. Nicola Fusco
Dr. Umberto Malapelle
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

  • genetics
  • hereditary breast cancer
  • prophylactic surgery
  • choice of breast surgery
  • oophorectomy vs. medication to induce menopause
  • genetic tests
  • PARP inhibitors for metastatic breast cancer
  • use of chemotherapy agents
  • participation in treatment clinical trials

Published Papers (3 papers)

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Research

14 pages, 277 KiB  
Article
Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer
by Eleni Zografos, Angeliki Andrikopoulou, Alkistis Maria Papatheodoridi, Maria Kaparelou, Garyfalia Bletsa, Michalis Liontos, Meletios-Athanasios Dimopoulos and Flora Zagouri
Genes 2022, 13(8), 1362; https://doi.org/10.3390/genes13081362 - 29 Jul 2022
Cited by 2 | Viewed by 1970
Abstract
Breast cancer has distinct etiology, prognoses, and clinical outcomes at premenopausal ages. Determination of the frequency of germline and somatic mutations will refine our understanding of the genetic contribution to premenopausal breast cancer susceptibility. We applied a comprehensive next generation sequencing-based approach to [...] Read more.
Breast cancer has distinct etiology, prognoses, and clinical outcomes at premenopausal ages. Determination of the frequency of germline and somatic mutations will refine our understanding of the genetic contribution to premenopausal breast cancer susceptibility. We applied a comprehensive next generation sequencing-based approach to analyze blood and/or tissue samples of 54 premenopausal breast cancer patients treated in our clinic. Genetic testing results were descriptively analyzed in correlation with clinicopathological data. In the present study, 42.5% of premenopausal breast cancer patients tested carried pathogenic mutations in cancer predisposition genes (CHEK2, BRCA1, TP53, and MUTYH). Germline variants of unknown/uncertain significance (VUSs) in eight different cancer susceptibility genes, namely BRCA1, BRCA2, CHEK2, RAD51C, RAD51D, ATM, BRIP1, and PMS2, were also identified in 14 premenopausal patients (35%). Of the breast tumors tested, 61.8% harbored pathogenic somatic variants in tumor suppressor genes (TP53, NF1, RB), genes involved in DNA repair (BRCA1, BRCA2, ATM, RAD50), cell proliferation (PTEN, PIK3C FGFR3, AKT1, ROS1, ERBB2, NOTCH1), and cell adhesion (CTNNB1). This descriptive study employs the powerful NGS technology to highlight the high frequency of premenopausal cases attributable to genetic predisposition. Mutation identification in a larger cohort may further ensure that these patients receive tailored treatment according to their menopausal status. Full article
(This article belongs to the Special Issue Breast Cancer Genetics: Diagnostic and Treatment 2022)
13 pages, 656 KiB  
Article
Satisfaction and Quality of Life of Healthy and Unilateral Diseased BRCA1/2 Pathogenic Variant Carriers after Risk-Reducing Mastectomy and Reconstruction Using the BREAST-Q Questionnaire
by Natalie Herold, Martin Hellmich, Frank Lichtenheldt, Beyhan Ataseven, Vanessa Hillebrand, Barbara Wappenschmidt, Rita Katharina Schmutzler and Kerstin Rhiem
Genes 2022, 13(8), 1357; https://doi.org/10.3390/genes13081357 - 28 Jul 2022
Cited by 4 | Viewed by 1778
Abstract
Risk-reducing mastectomy (RRM) is the most efficient form of breast cancer (BC) risk reduction in BRCA1/2 pathogenic variant (pV) carriers. However, this intervention in physical integrity is associated with significant morbidity. We assessed long-term perception of satisfaction and health-related quality of life (QoL) [...] Read more.
Risk-reducing mastectomy (RRM) is the most efficient form of breast cancer (BC) risk reduction in BRCA1/2 pathogenic variant (pV) carriers. However, this intervention in physical integrity is associated with significant morbidity. We assessed long-term perception of satisfaction and health-related quality of life (QoL) after bilateral RRM and reconstruction using the validated BREAST-Q. We searched the prospective database of the Center for Hereditary Breast and Ovarian Cancer Cologne for previvors and survivors who underwent bilateral RRM from 1994 to 2015 and evaluated the results of their BREAST-Q scores. The study enrolled 43 previvors and 90 survivors after a mean follow-up of 46.3 ± 45.3 months after RRM. Satisfaction and QoL were independent of the technique of RRM or type of reconstruction but depended on the time of RRM. Compared to survivors, previvors had significantly higher mean satisfaction scores in their psychosocial, sexual, and physical well-being (chest) in both modules. Among previvors and survivors, higher psychological well-being correlated with a higher satisfaction with information and higher satisfaction with outcome. As psychological well-being correlated with satisfaction with information and outcome, we developed decision aids to improve shared decision making and long-term satisfaction with the decision and the postoperative outcome. Full article
(This article belongs to the Special Issue Breast Cancer Genetics: Diagnostic and Treatment 2022)
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14 pages, 512 KiB  
Article
Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment
by Angela Secondino, Flavio Starnone, Iolanda Veneruso, Maria Antonietta Di Tella, Serena Conato, Carmine De Angelis, Sabino De Placido and Valeria D’Argenio
Genes 2022, 13(4), 682; https://doi.org/10.3390/genes13040682 - 13 Apr 2022
Cited by 2 | Viewed by 1947
Abstract
BRCA1/2 are tumor suppressor genes involved in DNA double-strand break repair. They are the most penetrant genes for hereditary breast and ovarian cancers, but pathogenic variants in these two genes can be identified only in a fraction of hereditary cases. Following [...] Read more.
BRCA1/2 are tumor suppressor genes involved in DNA double-strand break repair. They are the most penetrant genes for hereditary breast and ovarian cancers, but pathogenic variants in these two genes can be identified only in a fraction of hereditary cases. Following the diffusion of BRCA molecular testing and the availability of specific therapeutic strategies for the management of pathogenic variant carriers, the demand for the analysis of additional predisposing genetic factors has increased. Indeed, there is accumulating evidence regarding the role of other genes, including CHEK2 and PALB2. Both of them are involved in the same molecular pathway as BRCA genes, with CHEK2 being responsible for cell cycle stopping to allow the repair of DNA double-strand breaks and PALB2 being able to interact with BRCA1 and activate BRCA2. Thus, their role as additional hereditary cancer predisposing factors is intriguing. Accordingly, guidelines for hereditary cancer risk assessment have been updated to include the criteria for additional genes testing. In this context, we validated a commercially available kit allowing for the simultaneous analysis of BRCA1, BRCA2, CHEK2 and PALB2. Forty-eight patients, already tested for BRCA mutational status, were re-analyzed in the present study. Results comparison showed that the tested method was able to correctly identify all the variants previously detected in the same patients. In particular, all single-nucleotide variants and small indels were correctly identified. Moreover, two copy number variants, included to assess the software’s performance in detecting this kind of gene alteration, were also detected. Even if copy number variant estimation still requires confirmation by a molecular technique to avoid false positive results, it is able to reduce the number of patients requiring multiplex ligation probe amplification analysis, positively impacting the test’s turnaround time. Finally, since the time and costs of the analysis are similar to those required just for BRCA genes, this strategy may be affordable for providing a more comprehensive test for hereditary cancer risk assessment. Full article
(This article belongs to the Special Issue Breast Cancer Genetics: Diagnostic and Treatment 2022)
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