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Cancers
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BRCA-Associated Breast Cancer
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Special Issue "BRCA-Associated Breast Cancer"

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Molecular Cancer Biology".

Deadline for manuscript submissions: 15 December 2023 | Viewed by 3442

Special Issue Editors

Dr. Matilde Pensabene

E-Mail Website
Guest Editor
Department of Breast and Thoracic Oncology, Division of Breast Medical Oncology, National Cancer Institute - IRCCS “Fondazione G. Pascale”, 80131 Naples, Italy
Interests: cancer genetic counseling; breast cancer; hereditary syndromes
Dr. Carmine De Angelis
E-Mail Website
Guest Editor
Medical Oncology, Department of Clinical Medicine and Surgery, University Federico II, 80131 Naples, Italy
Interests: breast cancer; resistance; targeted therapy; biomarkers
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Matteo Lambertini

E-Mail Website
Guest Editor
IRCCS Ospedale Policlinico San Martino - University of Genova, Genoa, Italy
Interests: breast cancer; fertility preservation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In recent years, an increasing number of advancements have been made regarding BRCA-associated breast cancer. Advancements have been made concerning molecular diagnosis, genetic testing, the management of early or metastatic carcinoma, the management of long-survival patients for their risk of second primary tumors, surgical procedures, and clinical follow-up. Few data are available concerning the specific site of pathogenetic variants and the associated cancer spectrum. Variants of unknown significance foresee active research. Currently, fertility and fertility preservation in females with BRCA-associated breast cancer are highly relevant topics in this specific oncological field. I think that scientifically, this topic is very stimulating; for these reasons, I have decided to launch this Special Issue entitled “BRCA-associated breast cancer”.

We are pleased to invite you to contribute with original articles and real-world experiences. Reviews and systematic reviews are also welcome.

This Special Issue aims to report original research, and real-world experiences in this field, examining these topics from different perspectives, i.e., oncological, radiological, surgical, and psychological perspectives.  

Research areas may include (but are not limited to) the following: molecular genetics and genetic testing, the clinical management of healthy at-risk subjects, the treatment of patients with BRCA-related breast cancer, surgical management, and fertility issues concerning carriers of BRCA pathogenetic variants.

We look forward to receiving your contributions.

Dr. Matilde Pensabene
Dr. Carmine De Angelis
Prof. Dr. Matteo Lambertini 
Guest Editors

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. Cancers is an international peer-reviewed open access semimonthly 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

  • BRCA1
  • BRCA2
  • breast cancer
  • treatment
  • management
  • surgery
  • risk reducing mastectomy
  • fertility
  • surveillance
  • genetic testing

Published Papers (4 papers)

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Research

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Article
The Effect of Risk-Reducing Salpingo-Oophorectomy on Breast Cancer Incidence and Histopathological Features in Women with a BRCA1 or BRCA2 Germline Pathogenic Variant
by
Annechien Stuursma
,
Bert van der Vegt
,
Liesbeth Jansen
,
Lieke P. V. Berger
,
Marian J. E. Mourits
and
Geertruida H. de Bock
Cancers 2023, 15(7), 2095; https://doi.org/10.3390/cancers15072095 - 31 Mar 2023
Viewed by 610
Abstract
Background: Risk-reducing salpingo-oophorectomy (RRSO) is advised for female BRCA1/2 germline pathogenic variant (GPV) carriers to reduce tubal/ovarian cancer risk. RRSO may also affect breast cancer (BC) incidence. The aim was to investigate the effect of RRSO on BC incidence and histopathological features in [...] Read more.
Background: Risk-reducing salpingo-oophorectomy (RRSO) is advised for female BRCA1/2 germline pathogenic variant (GPV) carriers to reduce tubal/ovarian cancer risk. RRSO may also affect breast cancer (BC) incidence. The aim was to investigate the effect of RRSO on BC incidence and histopathological features in female BRCA1/2 GPV carriers. Methods: Prospectively collected clinical data from BRCA1/2 GPV carriers in our hospital-based data/biobank were linked to the Dutch Nationwide Pathology Databank (PALGA) in January 2022. Multivariable Cox-proportional hazard models were used to calculate hazard ratios (HRs) with 95% confidence intervals (95% CIs), where the pre-RRSO group was considered the reference group and the primary endpoint was the first primary BC. Histopathological features of BCs pre- and post-RRSO were compared using descriptive statistics. Results: In 1312 women, 164 incident primary BCs were observed. RRSO did not decrease BC risk for BRCA1 GPV (HR: 1.48, 95% CI: 0.91–2.39) or BRCA2 GPV (HR: 0.95, 95% CI: 0.43–2.07) carriers. BCs tended to be smaller post-RRSO (median: 12 mm) than pre-RRSO (15 mm, p: 0.08). There were no statistically significant differences in histopathological features. Conclusions: RRSO did not decrease BC risk or affect BC features in BRCA1/2 GPV in this study, although BCs diagnosed post-RRSO tended to be smaller. Full article
(This article belongs to the Special Issue BRCA-Associated Breast Cancer)
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Article
Response to Ovarian Stimulation for Urgent Fertility Preservation before Gonadotoxic Treatment in BRCA-Pathogenic-Variant-Positive Breast Cancer Patients
by
Lina El Moujahed
,
Robin Philis
,
Michael Grynberg
,
Lucie Laot
,
Pauline Mur
,
Noemi Amsellem
,
Anne Mayeur
,
Alexandra Benoit
,
Sophia Rakrouki
,
Christophe Sifer
,
Maeliss Peigné
and
Charlotte Sonigo
Cancers 2023, 15(3), 895; https://doi.org/10.3390/cancers15030895 - 31 Jan 2023
Viewed by 606
Abstract
BRCA 1/2 pathogenic variants increase the risk of developing early and aggressive breast cancers (BC). For these patients, fertility potential can be directly affected by oncologic treatments. In addition, evidence indicates that BRCA-mutated women had a significant reduction in their ovarian reserve. [...] Read more.
BRCA 1/2 pathogenic variants increase the risk of developing early and aggressive breast cancers (BC). For these patients, fertility potential can be directly affected by oncologic treatments. In addition, evidence indicates that BRCA-mutated women had a significant reduction in their ovarian reserve. In order to improve their chances of conception after the completion of cancer treatments, fertility preservation should be proposed before the administration of gonadotoxic drugs, ideally by oocyte vitrification after controlled ovarian hyperstimulation (COH). The present investigation aims to assess the ovarian response to COH in BRCA 1/2-pathogenic-variant carriers diagnosed with BC. Patient characteristics and COH outcomes were compared between BRCA-positive (n = 54) and BRCA-negative (n = 254) patients. The number of oocytes recovered did not differ between the two groups. However, the oocyte maturation rate and the number of mature oocytes obtained (7 (4.5–11.5) vs. 9 (5–14) oocytes, p = 0.05) were significantly lower in the BRCA-mutated patients. Although individualized COH protocols should be discussed, BRCA-mutated patients would benefit from FP before BC occurs, in order to cope with the potential accelerated decline of their ovarian reserve, optimize the success rate of FP by repeating COH cycles, and to preserve the feasibility of PGT-M by collecting a large amount of eggs. Full article
(This article belongs to the Special Issue BRCA-Associated Breast Cancer)

Review

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Review
Should Preimplantation Genetic Testing (PGT) Systematically Be Proposed to BRCA Pathogenic Variant Carriers?
by
Lucie Laot
,
Charlotte Sonigo
,
Julie Nobre
,
Alexandra Benachi
,
Traicie Dervin
,
Lina El Moujahed
,
Anne Mayeur
,
Dominique Stoppa-Lyonnet
,
Julie Steffann
and
Michael Grynberg
Cancers 2022, 14(23), 5769; https://doi.org/10.3390/cancers14235769 - 24 Nov 2022
Cited by 1 | Viewed by 731
Abstract
Over the past years, BRCA genes pathogenic variants have been associated to reproductive issues. Indeed, evidence indicate that BRCA-mutated patients are not only at higher risk of developing malignancies, but may also present a reduction of the follicular stockpile. Given these characteristics, [...] Read more.
Over the past years, BRCA genes pathogenic variants have been associated to reproductive issues. Indeed, evidence indicate that BRCA-mutated patients are not only at higher risk of developing malignancies, but may also present a reduction of the follicular stockpile. Given these characteristics, BRCA patients may be candidates to fertility preservation (FP) techniques or preimplantation genetic testing (PGT) to avoid the transmission of this inherited situation. Since the success rates of both procedures are highly related to the number of oocytes that could be recovered after ovarian stimulation, predicted by ovarian reserve tests, they are ideally performed before the diagnosis of cancer and its treatment. Despite the specific reproductive challenges related to BRCA status, no international guidelines for the application of PGT and FP in this subgroup of patients is currently available. The present article aims to review the available data regarding BRCA carriers’ ovarian reserve and PGT success rates in oncologic and non-oncologic contexts, to determine the actual indication of PGT and further to improve patients’ care pathway. Full article
(This article belongs to the Special Issue BRCA-Associated Breast Cancer)

Other

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Systematic Review
Oral Contraceptive Use and Breast Cancer Risk for BRCA1 and BRCA2 Mutation Carriers: Systematic Review and Meta-Analysis of Case–Control Studies
by
Agnieszka Barańska
and
Wiesław Kanadys
Cancers 2022, 14(19), 4774; https://doi.org/10.3390/cancers14194774 - 29 Sep 2022
Viewed by 1138
Abstract
Oral contraceptive use is one of the major modifiable risk factors for breast cancer. To investigate the effect of oral contraceptive taking on breast cancer risk by BRCA 1 and BRCA 2 mutation status, we conducted a systematic review and meta-analysis of case-controlled [...] Read more.
Oral contraceptive use is one of the major modifiable risk factors for breast cancer. To investigate the effect of oral contraceptive taking on breast cancer risk by BRCA 1 and BRCA 2 mutation status, we conducted a systematic review and meta-analysis of case-controlled studies. Therefore, English language articles were retrieved by searching MEDLINE (PubMed), EMBASE and the Cochrane Library up to August 2021. Data were pooled from none case–control studies, comprising a total of 33,162 subjects, including 23,453 who had never used oral contraceptives. Overall meta-analysis indicated a statistically insignificant risk reduction: OR = 0.86, 95% CI: 0.70 to 1.06, p = 0.1594. However, increased breast cancer risk was associated with age at first use of OCs ≥20 years: OR = 1.21, 95% CI:1.07 to 1.36, p = 0.002. Multivariable meta-regression with covariates of age of first OC use (β = 0.21, 95% CI: −0.25 to 0.67, p = 0.3767), duration of OC use (β = −0.08, 95% CI; −0.51 to 0.34, p = 0.7093), and time since last OC use (β = 0.32, 95% CI: −0.22 to 0.85, p = 0.2461) did not have a significant effect on the breast cancer risk. This meta-analysis suggests a diverse effect of oral contraceptive use against breast cancer in BRCA carrier mutation. The association between OC use and breast and ovarian cancers needs more investigation. Full article
(This article belongs to the Special Issue BRCA-Associated Breast Cancer)
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Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Title: Biological Therapies Beyond PARP-Inhibitors in Advanced Breast Cancer Patients with Germline BRCA Mutations
Authors: M. Nerone1; F. Conforti2; L. Rossi1; V. Ratti1; R. Graffeo1
Affiliation: 1 Oncology Institute of Southern Switzerland, EOC, Bellinzona, Switzerland 2 Medical Oncology, Humanitas Gavazzeni Hospital, Bergamo, Italy
Abstract: The treatment landscape for advanced breast cancer (BC) has been expanding due to the development of biological drugs with demonstrated efficacy across all breast cancer subtypes. The role of poly (ADP-ribose) polymerase (PARP) inhibitors in advanced BC is well established for the treatment of pathogenic variants (PVs) germline BRCA-mutated (gBRCAm) HER2-negative BC, regardless of hormone receptor (HR) expression. Nevertheless, there is very little data on the efficacy of other drugs in the event of disease progression in patients with gBRCAm BC. This review provides an update on the efficacy of biological drugs, approved in the US and Europe, for the treatment of advanced BC, in gBRCAm BC patients. The efficacy of trastuzumab deruxtecan, an antibody-drug conjugate (ADC) targeting HER2 for Her-2 low breast cancer, has been increasingly described. Unfortunately, data on trastuzumab deruxtecan in HER2-positive or HER2-low metastatic BC harboring gBRCAm is lacking. Including germinal BRCA status in the subgroup analysis of the registration trials of this ADC would be of great interest, especially in the phase III trial DESTINY-breast04. This trial involved patients with HR-negative BC, which was classified as triple-negative, and now categorized as HER2-low, therefore there is a high probability that some women were gBRCA carriers and this data was not reported. In this review, we also explore the outcomes of germline BRCA PVs in the endocrine-sensitive disease treated with first line standard of care CDK4/6 inhibitors. Germinal BRCA status was not included in the subgroup analysis of the CDK4/6 registration trials. Three studies retrospectively showed a reduction in overall survival and progression free survival in gBRCAm patients compared to both BRCA wild type and the untested population. Regarding the efficacy of PI3Ka-Inhibitors, there are no subgroup or biomarker analyses in which germinal BRCA status was explored. However, the biological interactions between the PIK3CA/AKT/mTOR pathway and BRCA at a molecular level could help us to understand the activity of these drugs when used to treat BC in BRCA carriers. In conclusion, germline BRCA status will be available for a higher number of individuals with BC in the near future and data on the prognostic and predictive role of gBRCAm is needed in order to choose the best treatment.

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