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

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

Deadline for manuscript submissions: closed (20 April 2021) | Viewed by 59763

Special Issue Editor

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

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. Choice of treatment can be personalized based on cancer type, stage, and genetics. An inherited gene can increase risk of developing a second breast cancer, so 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, but 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
Guest Editor

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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

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Published Papers (9 papers)

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Editorial

Jump to: Research, Review, Other

4 pages, 204 KiB  
Editorial
Breast Cancer Genetics: Diagnostics and Treatment
by Carmen Criscitiello and Chiara Corti
Genes 2022, 13(9), 1593; https://doi.org/10.3390/genes13091593 - 6 Sep 2022
Cited by 27 | Viewed by 7993
Abstract
Breast cancer (BC) genetics has become a fundamental aspect of BC management [...] Full article
(This article belongs to the Special Issue Breast Cancer Genetics: Diagnostic and Treatment)

Research

Jump to: Editorial, Review, Other

14 pages, 950 KiB  
Article
Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers
by Angela Toss, Elena Tenedini, Claudia Piombino, Marta Venturelli, Isabella Marchi, Elisa Gasparini, Elena Barbieri, Elisabetta Razzaboni, Federica Domati, Federica Caggia, Giovanni Grandi, Francesca Combi, Giovanni Tazzioli, Massimo Dominici, Enrico Tagliafico and Laura Cortesi
Genes 2021, 12(5), 616; https://doi.org/10.3390/genes12050616 - 21 Apr 2021
Cited by 18 | Viewed by 8335
Abstract
The most common breast cancer (BC) susceptibility genes beyond BRCA1/2 are ATM and CHEK2. For the purpose of exploring the clinicopathologic characteristics of BC developed by ATM or CHEK2 mutation carriers, we reviewed the archive of our Family Cancer Clinic. Since 2018, [...] Read more.
The most common breast cancer (BC) susceptibility genes beyond BRCA1/2 are ATM and CHEK2. For the purpose of exploring the clinicopathologic characteristics of BC developed by ATM or CHEK2 mutation carriers, we reviewed the archive of our Family Cancer Clinic. Since 2018, 1185 multi-gene panel tests have been performed. Nineteen ATM and 17 CHEK2 mutation carriers affected by 46 different BCs were identified. A high rate of bilateral tumors was observed in ATM (26.3%) and CHEK2 mutation carriers (41.2%). While 64.3% of CHEK2 tumors were luminal A-like, 56.2% of ATM tumors were luminal B-like/HER2-negative. Moreover, 21.4% of CHEK2-related invasive tumors showed a lobular histotype. About a quarter of all ATM-related BCs and a third of CHEK2 BCs were in situ carcinomas and more than half of ATM and CHEK2-related BCs were diagnosed at stage I-II. Finally, 63.2% of ATM mutation carriers and 64.7% of CHEK2 mutation carriers presented a positive BC family history. The biological and clinical characteristics of ATM and CHEK2-related tumors may help improve diagnosis, prognostication and targeted therapeutic approaches. Contralateral mastectomy should be considered and discussed with ATM and CHEK2 mutation carriers at the first diagnosis of BC. Full article
(This article belongs to the Special Issue Breast Cancer Genetics: Diagnostic and Treatment)
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12 pages, 668 KiB  
Article
BRCA1/2 Mutation Detection in the Tumor Tissue from Selected Polish Patients with Breast Cancer Using Next Generation Sequencing
by Ewelina Szczerba, Katarzyna Kamińska, Tomasz Mierzwa, Marcin Misiek, Janusz Kowalewski and Marzena Anna Lewandowska
Genes 2021, 12(4), 519; https://doi.org/10.3390/genes12040519 - 2 Apr 2021
Cited by 14 | Viewed by 10482
Abstract
(1) Background: Although, in the mutated BRCA detected in the Polish population of patients with breast cancer, there is a large percentage of recurrent pathogenic variants, an increasing need for the assessment of rare BRCA1/2 variants using NGS can be observed. (2) Methods: [...] Read more.
(1) Background: Although, in the mutated BRCA detected in the Polish population of patients with breast cancer, there is a large percentage of recurrent pathogenic variants, an increasing need for the assessment of rare BRCA1/2 variants using NGS can be observed. (2) Methods: We studied 75 selected patients with breast cancer (negative for the presence of 5 mutations tested in the Polish population in the prophylactic National Cancer Control Program). DNA extracted from the cancer tissue of these patients was used to prepare a library and to sequence all coding regions of the BRCA1/2 genes. (3) Results: We detected nine pathogenic variants in 8 out of 75 selected patients (10.7%). We identified one somatic and eight germline variants. We also used different bioinformatic NGS software programs to analyze NGS FASTQ files and established that tertiary analysis performed with different tools was more likely to give the same outcome if we analyzed files received from secondary analysis using the same method. (4) Conclusions: Our study emphasizes (i) the importance of an NGS validation process with a bioinformatic procedure included; (ii) the importance of screening both somatic and germline pathogenic variants; (iii) the urgent need to identify additional susceptible genes in order to explain the high percentage of non-BRCA-related hereditary cases of breast cancer. Full article
(This article belongs to the Special Issue Breast Cancer Genetics: Diagnostic and Treatment)
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Review

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12 pages, 293 KiB  
Review
Surgical Management of Hereditary Breast Cancer
by Elizabeth R. Berger and Mehra Golshan
Genes 2021, 12(9), 1371; https://doi.org/10.3390/genes12091371 - 31 Aug 2021
Cited by 8 | Viewed by 4027
Abstract
The identification that breast cancer is hereditary was first described in the nineteenth century. With the identification of the BRCA1 and BRCA 2 breast/ovarian cancer susceptibility genes in the mid-1990s and the introduction of genetic testing, significant advancements have been made in tailoring [...] Read more.
The identification that breast cancer is hereditary was first described in the nineteenth century. With the identification of the BRCA1 and BRCA 2 breast/ovarian cancer susceptibility genes in the mid-1990s and the introduction of genetic testing, significant advancements have been made in tailoring surveillance, guiding decisions on medical or surgical risk reduction and cancer treatments for genetic variant carriers. This review discusses various medical and surgical management options for hereditary breast cancers. Full article
(This article belongs to the Special Issue Breast Cancer Genetics: Diagnostic and Treatment)
10 pages, 610 KiB  
Review
The ATM Gene in Breast Cancer: Its Relevance in Clinical Practice
by Luigia Stefania Stucci, Valeria Internò, Marco Tucci, Martina Perrone, Francesco Mannavola, Raffaele Palmirotta and Camillo Porta
Genes 2021, 12(5), 727; https://doi.org/10.3390/genes12050727 - 13 May 2021
Cited by 47 | Viewed by 8949
Abstract
Molecular alterations of the Ataxia-telangiectasia (AT) gene are frequently detected in breast cancer (BC), with an incidence ranging up to 40%. The mutated form, the Ataxia-telangiectasia mutated (ATM) gene, is involved in cell cycle control, apoptosis, oxidative stress, and [...] Read more.
Molecular alterations of the Ataxia-telangiectasia (AT) gene are frequently detected in breast cancer (BC), with an incidence ranging up to 40%. The mutated form, the Ataxia-telangiectasia mutated (ATM) gene, is involved in cell cycle control, apoptosis, oxidative stress, and telomere maintenance, and its role as a risk factor for cancer development is well established. Recent studies have confirmed that some variants of ATM are associated with an increased risk of BC development and a worse prognosis. Thus, many patients harboring ATM mutations develop intermediate- and high-grade disease, and there is a higher rate of lymph node metastatic involvement. The evidence concerning a correlation of ATM gene mutations and the efficacy of therapeutic strategies in BC management are controversial. In fact, ATM mutations may sensitize cancer cells to platinum-derived drugs, as BRCA1/2 mutations do, whereas their implications in objective responses to hormonal therapy or target-based agents are not well defined. Herein, we conducted a review of the role of ATM gene mutations in BC development, prognosis, and different treatment strategies. Full article
(This article belongs to the Special Issue Breast Cancer Genetics: Diagnostic and Treatment)
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27 pages, 1432 KiB  
Review
New Insights into the Therapeutic Applications of CRISPR/Cas9 Genome Editing in Breast Cancer
by Munazza Ahmed, Grace Hope Daoud, Asmaa Mohamed and Rania Harati
Genes 2021, 12(5), 723; https://doi.org/10.3390/genes12050723 - 12 May 2021
Cited by 16 | Viewed by 7112
Abstract
Breast cancer is one of the most prevalent forms of cancer globally and is among the leading causes of death in women. Its heterogenic nature is a result of the involvement of numerous aberrant genes that contribute to the multi-step pathway of tumorigenesis. [...] Read more.
Breast cancer is one of the most prevalent forms of cancer globally and is among the leading causes of death in women. Its heterogenic nature is a result of the involvement of numerous aberrant genes that contribute to the multi-step pathway of tumorigenesis. Despite the fact that several disease-causing mutations have been identified, therapy is often aimed at alleviating symptoms rather than rectifying the mutation in the DNA sequence. The Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9 is a groundbreaking tool that is being utilized for the identification and validation of genomic targets bearing tumorigenic potential. CRISPR/Cas9 supersedes its gene-editing predecessors through its unparalleled simplicity, efficiency and affordability. In this review, we provide an overview of the CRISPR/Cas9 mechanism and discuss genes that were edited using this system for the treatment of breast cancer. In addition, we shed light on the delivery methods—both viral and non-viral—that may be used to deliver the system and the barriers associated with each. Overall, the present review provides new insights into the potential therapeutic applications of CRISPR/Cas9 for the advancement of breast cancer treatment. Full article
(This article belongs to the Special Issue Breast Cancer Genetics: Diagnostic and Treatment)
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21 pages, 380 KiB  
Review
The Unique Biology behind the Early Onset of Breast Cancer
by Alaa Siddig, Tengku Ahmad Damitri Al-Astani Tengku Din, Siti Norasikin Mohd Nafi, Maya Mazuwin Yahya, Sarina Sulong and Wan Faiziah Wan Abdul Rahman
Genes 2021, 12(3), 372; https://doi.org/10.3390/genes12030372 - 5 Mar 2021
Cited by 14 | Viewed by 3991
Abstract
Breast cancer commonly affects women of older age; however, in developing countries, up to 20% of breast cancer cases present in young women (younger than 40 years as defined by oncology literature). Breast cancer in young women is often defined to be aggressive [...] Read more.
Breast cancer commonly affects women of older age; however, in developing countries, up to 20% of breast cancer cases present in young women (younger than 40 years as defined by oncology literature). Breast cancer in young women is often defined to be aggressive in nature, usually of high histological grade at the time of diagnosis and negative for endocrine receptors with poor overall survival rate. Several researchers have attributed this aggressive nature to a hidden unique biology. However, findings in this aspect remain controversial. Thus, in this article, we aimed to review published work addressing somatic mutations, chromosome copy number variants, single nucleotide polymorphisms, differential gene expression, microRNAs and gene methylation profile of early-onset breast cancer, as well as its altered pathways resulting from those aberrations. Distinct biology behind early-onset of breast cancer was clear among estrogen receptor-positive and sporadic cases. However, further research is needed to determine and validate specific novel markers, which may help in customizing therapy for this group of patients. Full article
(This article belongs to the Special Issue Breast Cancer Genetics: Diagnostic and Treatment)
7 pages, 382 KiB  
Review
Nipple Sparing Mastectomy as a Risk-Reducing Procedure for BRCA-Mutated Patients
by Nicola Rocco, Giacomo Montagna, Carmen Criscitiello, Maurizio Bruno Nava, Francesca Privitera, Wafa Taher, Antonio Gloria and Giuseppe Catanuto
Genes 2021, 12(2), 253; https://doi.org/10.3390/genes12020253 - 10 Feb 2021
Cited by 11 | Viewed by 3327
Abstract
Growing numbers of asymptomatic women who become aware of carrying a breast cancer gene mutation (BRCA) mutation are choosing to undergo risk-reducing bilateral mastectomies with immediate breast reconstruction. We reviewed the literature with the aim of assessing the oncological safety of [...] Read more.
Growing numbers of asymptomatic women who become aware of carrying a breast cancer gene mutation (BRCA) mutation are choosing to undergo risk-reducing bilateral mastectomies with immediate breast reconstruction. We reviewed the literature with the aim of assessing the oncological safety of nipple-sparing mastectomy (NSM) as a risk-reduction procedure in BRCA-mutated patients. Nine studies reporting on the incidence of primary breast cancer post NSM in asymptomatic BRCA mutated patients undergoing risk-reducing bilateral procedures met the inclusion criteria. NSM appears to be a safe option for BRCA mutation carriers from an oncological point of view, with low reported rates of new breast cancers, low rates of postoperative complications, and high levels of satisfaction and postoperative quality of life. However, larger multi-institutional studies with longer follow-up are needed to establish this procedure as the best surgical option in this setting. Full article
(This article belongs to the Special Issue Breast Cancer Genetics: Diagnostic and Treatment)
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Other

7 pages, 1265 KiB  
Case Report
Characterization of New ATM Deletion Associated with Hereditary Breast Cancer
by Sandra Parenti, Claudio Rabacchi, Marco Marino, Elena Tenedini, Lucia Artuso, Sara Castellano, Chiara Carretta, Selene Mallia, Laura Cortesi, Angela Toss, Elena Barbieri, Rossella Manfredini, Mario Luppi, Tommaso Trenti and Enrico Tagliafico
Genes 2021, 12(2), 136; https://doi.org/10.3390/genes12020136 - 21 Jan 2021
Cited by 9 | Viewed by 4356
Abstract
Next-generation sequencing (NGS)-based cancer risk screening with multigene panels has become the most successful method for programming cancer prevention strategies. ATM germ-line heterozygosity has been described to increase tumor susceptibility. In particular, families carrying heterozygous germ-line variants of ATM gene have a 5- [...] Read more.
Next-generation sequencing (NGS)-based cancer risk screening with multigene panels has become the most successful method for programming cancer prevention strategies. ATM germ-line heterozygosity has been described to increase tumor susceptibility. In particular, families carrying heterozygous germ-line variants of ATM gene have a 5- to 9-fold risk of developing breast cancer. Recent studies identified ATM as the second most mutated gene after CHEK2 in BRCA-negative patients. Nowadays, more than 170 missense variants and several truncating mutations have been identified in ATM gene. Here, we present the molecular characterization of a new ATM deletion, identified thanks to the CNV algorithm implemented in the NGS analysis pipeline. An automated workflow implementing the SOPHiA Genetics’ Hereditary Cancer Solution (HCS) protocol was used to generate NGS libraries that were sequenced on Illumina MiSeq Platform. NGS data analysis allowed us to identify a new inactivating deletion of exons 19–27 of ATM gene. The deletion was characterized both at the DNA and RNA level. Full article
(This article belongs to the Special Issue Breast Cancer Genetics: Diagnostic and Treatment)
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