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Cancers
Special Issues
Changing Landscape of Hereditary Breast and Ovarian Cancer 2.0
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Changing Landscape of Hereditary Breast and Ovarian Cancer 2.0

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Epidemiology and Prevention".

Deadline for manuscript submissions: closed (30 September 2023) | Viewed by 3379

Special Issue Editor

Dr. Joanne Kotsopoulos

E-Mail Website
Guest Editor
1. Women’s College Research Institute, Women’s College Hospital, Toronto, ON M5S 1B2, Canada
2. Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5T 3M7, Canada
Interests: BRCA1; BRCA2; breast cancer; ovarian cancer; epidemiology; biomarkers; prevention
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This collection is the second edition of a previous issue on the topic of “Changing Landscape of Hereditary Breast and Ovarian Cancer”.

We are putting together this Special Issue to discuss emerging and recent updates surrounding the epidemiology and management of hereditary breast and ovarian cancers. Specifically, we aim to publish novel findings regarding the role of germline mutations in BRCA1 or BRCA2 and other genes in cancer risk and management. We are considering topics across the continuum, including the role of other cancer susceptibility genes and novel models of genetic testing, screening, prevention, and treatment. We will consider both original research and timely reviews.

Based on your expertise, we are inviting you to submit a review or original manuscript on the topic of BRCA mutations among breast and ovarian cancers. However, if you have an alternative topic that aligns with the summary or overall theme of this Special Issue, we welcome novel suggestions.

Dr. Joanne Kotsopoulos
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. 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 2900 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

  • hereditary cancer
  • BRCA1
  • BRCA2
  • genetic testing
  • prevention
  • treatment
  • breast cancer
  • ovarian cancer
  • screening

Published Papers (2 papers)

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Research

11 pages, 1827 KiB  
Article
Comparison of Long-Term Oncological Results in Young Women with Breast Cancer between BRCA-Mutation Carriers Versus Non-Carriers: How Tumor and Genetic Risk Factors Influence the Clinical Prognosis
by Corrado Tinterri, Simone Di Maria Grimaldi, Andrea Sagona, Erika Barbieri, Shadya Darwish, Alberto Bottini, Giuseppe Canavese and Damiano Gentile
Cancers 2023, 15(16), 4177; https://doi.org/10.3390/cancers15164177 - 19 Aug 2023
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Abstract
Background: Breast cancer (BC) is very uncommon in young women (YW) and it is unclear whether a BRCA mutation has prognostic implications. Our aim was to evaluate the characteristics of YW with BC by comparing the long-term oncological results between BRCA-mutation carriers and [...] Read more.
Background: Breast cancer (BC) is very uncommon in young women (YW) and it is unclear whether a BRCA mutation has prognostic implications. Our aim was to evaluate the characteristics of YW with BC by comparing the long-term oncological results between BRCA-mutation carriers and non-carriers. Methods: We retrospectively reviewed all the consecutive YW (aged 18–40 years) diagnosed with BC. Endpoints were disease-free survival (DFS), distant disease-free survival (DDFS), and overall survival (OS). Results: 63 YW with a BRCA mutation were compared with 339 YW without BRCA mutation. BRCA-mutation carriers were younger (60.3% versus 34.8% if age ≤ 35 years, p = 0.001) and presented with more aggressive tumors (66.7% versus 40.7% if G3, p = 0.001; 57.2% versus 12.4% if biological subtype triple-negative, p = 0.001; 73.0% versus 39.2% if Ki67 ≥ 25%, p = 0.001). Non-carriers presented significantly better DFS, DDFS, and OS compared with BRCA-mutation carriers. Neoadjuvant chemotherapy was found to be an independent protective factor for OS in BRCA-mutation carriers. Conclusions: BC is more likely to present at a younger age (≤ 35 years) and with more aggressive characteristics (G3, triple-negative, Ki67 ≥ 25%) in YW with BRCA mutation compared with their non-mutated counterparts. Young BRCA-mutation carriers showed a poorer prognosis in terms of recurrence and survival compared with non-carriers. The implementation of neoadjuvant chemotherapy may improve survival in YW with BC and BRCA mutation. Full article
(This article belongs to the Special Issue Changing Landscape of Hereditary Breast and Ovarian Cancer 2.0)
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16 pages, 3203 KiB  
Communication
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
by Gisella Figlioli, Amandine Billaud, Qin Wang, Manjeet K. Bolla, Joe Dennis, Michael Lush, Anders Kvist, Muriel A. Adank, Thomas U. Ahearn, Natalia N. Antonenkova, Päivi Auvinen, Sabine Behrens, Marina Bermisheva, Natalia V. Bogdanova, Stig E. Bojesen, Bernardo Bonanni, Thomas Brüning, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Melissa H. Cessna, NBCS Collaborators, Kamila Czene, Peter Devilee, Thilo Dörk, Mikael Eriksson, Peter A. Fasching, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Gord Glendon, Encarna B. Gómez Garcia, Anna González-Neira, Felix Grassmann, Pascal Guénel, Eric Hahnen, Ute Hamann, Peter Hillemanns, Maartje J. Hooning, Reiner Hoppe, Anthony Howell, Keith Humphreys, kConFab Investigators, Anna Jakubowska, Elza K. Khusnutdinova, Vessela N. Kristensen, Annika Lindblom, Maria A. Loizidou, Jan Lubiński, Arto Mannermaa, Tabea Maurer, Dimitrios Mavroudis, William G. Newman, Nadia Obi, Mihalis I. Panayiotidis, Paolo Radice, Muhammad U. Rashid, Valerie Rhenius, Matthias Ruebner, Emmanouil Saloustros, Elinor J. Sawyer, Marjanka K. Schmidt, Rita K. Schmutzler, Mitul Shah, Melissa C. Southey, Ian Tomlinson, Thérèse Truong, Elke M. van Veen, Camilla Wendt, Xiaohong R. Yang, Kyriaki Michailidou, Alison M. Dunning, Paul D. P. Pharoah, Douglas F. Easton, Irene L. Andrulis, D. Gareth Evans, Antoinette Hollestelle, Jenny Chang-Claude, Roger L. Milne and Paolo Peterlongoadd Show full author list remove Hide full author list
Cancers 2023, 15(13), 3313; https://doi.org/10.3390/cancers15133313 - 23 Jun 2023
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Abstract
FANCM germline protein truncating variants (PTVs) are moderate-risk factors for ER-negative breast cancer. We previously described the spectrum of FANCM PTVs in 114 European breast cancer cases. In the present, larger cohort, we report the spectrum and frequency of four common and 62 [...] Read more.
FANCM germline protein truncating variants (PTVs) are moderate-risk factors for ER-negative breast cancer. We previously described the spectrum of FANCM PTVs in 114 European breast cancer cases. In the present, larger cohort, we report the spectrum and frequency of four common and 62 rare FANCM PTVs found in 274 carriers detected among 44,803 breast cancer cases. We confirmed that p.Gln1701* was the most common PTV in Northern Europe with lower frequencies in Southern Europe. In contrast, p.Gly1906Alafs*12 was the most common PTV in Southern Europe with decreasing frequencies in Central and Northern Europe. We verified that p.Arg658* was prevalent in Central Europe and had highest frequencies in Eastern Europe. We also confirmed that the fourth most common PTV, p.Gln498Thrfs*7, might be a founder variant from Lithuania. Based on the frequency distribution of the carriers of rare PTVs, we showed that the FANCM PTVs spectra in Southwestern and Central Europe were much more heterogeneous than those from Northeastern Europe. These findings will inform the development of more efficient FANCM genetic testing strategies for breast cancer cases from specific European populations. Full article
(This article belongs to the Special Issue Changing Landscape of Hereditary Breast and Ovarian Cancer 2.0)
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