Hereditary Cancers: latest BMC Cancer research and call for papers
Published in Cancer, Genetics & Genomics, and General & Internal Medicine
Hereditary cancers are the most prevalent form of vertically transmitted disorders, affecting at least 2% of individuals who appear healthy but carry high-penetrance tumour-predisposing variants. Some well-known hereditary cancer syndromes include Hereditary Breast and Ovarian Cancer Syndrome (HBOC), which involves mutations in the BRCA1 and BRCA2 genes, increasing the risk of breast and ovarian cancers and Lynch Syndrome, caused by mutations in mismatch repair genes, increasing the risk of colorectal, endometrial, and other cancers.
BMC Cancer has curated a collection of articles showcasing the recent advancements in the field. Highlights from this collection are featured below.
We are also excited to announce an open call for papers to our Collection on Hereditary cancer syndromes (Submission deadline: 22 February 2025) to advance this important area of research.
Supporting the power of genetic testing and counselling
The high prevalence of hereditary cancers poses significant challenges in oncology due to the need for early detection, targeted prevention strategies, and tailored treatment plans to manage the elevated cancer risks associated with these genetic conditions.
Cancer risk assessment through genetic testing and pre-test and post-test genetic counselling is recommended by the National Comprehensive Cancer Network (NCCN) guidelines and is essential in managing hereditary cancer syndromes. They provide individuals and families with crucial information about the genetic aspects of cancer, helping them understand their risks and offering psychological support. This is particularly evidenced by Ciucă et al.'s systematic review, which highlights the positive impact of genetic counselling, educational programs, and psychological support on emotional, cognitive, and behavioural outcomes for individuals with a family history of colorectal cancer (CRC). In recognition of the importance of these tools, efforts are undergoing to better integrate genetic testing and counselling into healthcare systems. For instance, to manage the large number of metastatic prostate cancer patients in the Netherlands, Vlaming et al. proposed the DISCOVER study protocol, which aims to streamline the process, enabling non-genetic healthcare professionals to discuss and order germline genetic tests, traditionally limited to clinical geneticists or genetic counsellors.
Addressing global disparities in genetic testing and counselling: how can we bridge the gap?
Despite global guidelines recommending genetic testing and counselling, their adoption worldwide continues to fall short of expectations. Discrimination and inequality in access to genetic counselling and testing persist globally. Even in developed and more experienced countries, minority populations often face challenges such as cultural and language barriers, mistrust of healthcare systems, and socioeconomic disparities. A study protocol by Hagiwara et al., aims to examine how implicit and explicit racial biases among genetic counsellors affect communication quality and clinical recommendations, aiming to improve genetic counselling practices and training.
Disparities are even more pronounced in low- and middle-income countries (LMICs) where genetic testing for familial cancer risk is nearly non-existent due to lack of awareness and education, resource constraints and economic barriers, as also outlined in a systematic review by Goh et al.
Improving cancer genetic screening and counselling worldwide is a key objective of the World Health Organization (WHO) and aligns with Sustainable Development Goal (SDG) 3 and 10, which aim to reduce inequalities, ensure healthy lives and promote well-being for all at all ages. By integrating genetic screening and counselling into national healthcare systems, the WHO seeks to achieve Universal Health Coverage (UHC) and provide equitable access to vital cancer services globally. Some progress has been already made by implementing advanced genomic technologies and data-driven patient care approaches to enhance cancer diagnostics and treatment. For example, the first BRCA1/2 mutational profile of a breast cancer patient cohort in Mauritania using next-generation sequencing (NGS) allowed researchers to evaluate the relevance of detected variants to carriers' demographic and clinical characteristics. Similarly, in Morocco, Melki et al. reported on the prevalence and clinical significance of specific BRCA1/2 mutations in the northeastern region, where the contribution of these germline mutations to breast cancer remains largely unknown. In Brazil, de Oliveira Ferreira's study investigated for the first time the prevalence of BRCA1 and BRCA2 germline mutations in women with ovarian cancer treated in the Public Health System in Pernambuco, where genetic testing and data regarding germline mutations are still scarce.
Expanding Genetic Testing
The recent advancements and spreading in genetic testing technology, such as NGS, coupled with reduced costs, have also expanded the scope of genetic screening, leading to the discovery of new variants in cancer predisposition genes and improving variants classification. This progress is exemplified by Öfverholm et al.’s study, which showed that extending breast and ovarian cancer screening from BRCA1/2 to 13 genes nearly doubled diagnostic yield, influencing genetic counselling and clinical guidelines. Similarly, Joris et al. identified 27 variants of uncertain significance in DNA Damage Repair (DDR) genes in families with both breast and pancreatic cancer, identifying RAD17 as a promising new candidate predisposition gene. Additionally, Bassi et al. investigated the effects of 11 rare BRCA1 missense variants on homologous recombination repair (HRR) and transcriptional activation (TA), enhancing the understanding of these variants' functional impacts.
Improving patients’ management
Alongside genetic testing and counselling, managing patients with genetic mutations requires the implementation of targeted surveillance and preventive strategies to effectively reduce cancer risk. In the United Kingdom, for instance, individuals with Lynch Syndrome are advised to undergo biennial colonoscopy beginning at age 25 to monitor their heightened risk of colorectal cancer. Ongoing research aims to enhance early diagnosis. The study protocol by Lincoln et al. explores the potential of incorporating annual faecal immunochemical testing (FIT) as an additive, non-invasive diagnostic tool. This approach seeks to improve patient management by offering a less invasive method to detect early signs of cancer, potentially enhancing overall surveillance strategies.
Chiara is a Senior Editor for the BMC Series and joined in April 2022 after over ten years of research experience. She holds a Master’s degree in Medical Biotechnologies and a PhD in Neuroscience from the University of Milano-Bicocca, where she studied the effect of targeted cell cycle inhibition on glioma stem cells. Following postdoctoral work at the same University, she moved as a Research Fellow to the University of Sussex where she focused on the identification of potential new biomarkers and therapeutic targets in glioblastoma and breast cancer.
Follow the Topic
-
BMC Cancer
This is an open access, peer-reviewed journal that considers articles on all aspects of cancer research, including the pathophysiology, prevention, diagnosis and treatment of cancers.
Related Collections
With Collections, you can get published faster and increase your visibility.
Cancer control in low- and middle-income countries – Part II
In recent years, non-communicable diseases, including cancer, have shown a disproportionate increase in incidence and related mortality in low- and middle-income countries (LMICs). By 2030, approximately three-quarters of all cancer deaths will occur in LMICs, with one in eight people experiencing a cancer diagnosis in their lifetime. Reasons for disparate trends include better risk factor control in high-income countries (lower infection-associated cancers, anti-smoking campaigns, and other preventive measures), educational resources, increased number of screening and surveillance programs with earlier detection of disease, and access to more effective cancer therapies. In contrast, many LMICs experience rising cancer incidence rates due to demographic transitions marked by aging population structures and a shift in prevalent risk factors (e.g., increasing tobacco use, alcohol consumption, unhealthy diets, physical inactivity). The underlying factors are complex and interrelated, contextualized to each country's setting, and merit further study.
In 2015, the United National General Assembly adopted the 2030 Agenda for Sustainable Development Goals (SDGs), built on the principle of “leaving no one behind.” The goals highlighted the importance of fighting inequalities across the world, and specifically, two goals, SDG 3: Good Health and Well-Being and SDG 10: Reduced Inequalities, have the ambitious aim of reducing disparities within and among countries and ensuring healthy lives for all at all ages. In addition, the 2020 WHO report on cancer clearly states that cancer control is an integral component of the path toward universal health coverage and achieving SDGs. By investing wisely and equitably, cancer cases and deaths can be avoided, and premature mortality can be reduced by 2030.
Hence, to combat the high mortality of preventable and treatable cancer in LMICs, urgent efforts are needed to improve cancer control programs and educate the public to bridge knowledge gaps, address misconceptions, and debunk myths. In addition, several gaps in the research enterprise of LMICs, such as the scarcity of reliable data, a lack of clinical trials, as well as the lack of infrastructure and trained human resources, must be addressed to solve local and regional problems with acceptable, feasible, effective, and implementable solutions.
In recognition of this relevant field, we encourage submissions including but not limited to those addressing:
• Patient navigation in cancer care and its role in cancer control in LMICs
• Training of the workforce caring for patients with cancer in LMICs
• Decentralization of cancer care in LMICs
• Technology, infrastructures, and the need for implementation in cancer care in LMICs
• The role of AI and digital health in cancer care in LMICs
• Financial burden of cancer care on patients and their families
• The role of cancer registries in strengthening cancer control in LMICs
• Defining optimal cancer treatment approaches in LMICs using local evidence
• Clinical trials and cancer in LMICs
• Anticipation medicine and cancer in LMICs
• Trends in cancer research in LMICs
• National cancer control plans and their utility in LMICs and barriers to implementation
• Twinning and partnership in cancer care in LMICs
All manuscripts submitted to this journal, including those submitted to collections and special issues, are assessed in line with our editorial policies and the journal’s peer-review process. Reviewers and editors are required to declare competing interests and can be excluded from the peer review process if a competing interest exists.
This Collection supports and amplifies research related to SDG 3: Good Health and Well-Being and SDG 10: Reduced Inequalities.
Publishing Model: Open Access
Deadline: Nov 13, 2026
Mitochondrial dynamics in cancer biology
Mitochondria are vital organelles that govern cellular bioenergetics, metabolic flexibility, and programmed cell death. In cancer biology, the dynamic remodeling of mitochondria, through coordinated fusion, fission, and mitophagy, has emerged as a central determinant of how tumor cells adapt to fluctuating metabolic demands and hostile microenvironmental conditions. These remodeling events are driven by specialized regulatory proteins. Shifts in the activity or expression of these molecules can reconfigure mitochondrial architecture, influencing reactive oxygen species (ROS) signaling, metabolic flux, and cellular resilience. Importantly, inflammatory signals within the tumor microenvironment can modulate these processes by altering cytokine-driven stress responses and ROS levels, thereby shaping mitochondrial dynamics in ways that favor tumor adaptation and survival. Because tumor cells often exploit such altered dynamics to enhance proliferation, evade apoptosis, and thrive in hypoxic niches, dissecting these processes may reveal key vulnerabilities in cancer progression.
Investigating mitochondrial dynamics in cancer is therefore essential for shaping effective therapeutic approaches. Advances in live-cell imaging, genetic perturbation, and metabolic profiling have deepened our understanding of how structural alterations in mitochondria intersect with cancer-specific phenotypes, including metabolic rewiring and stress tolerance. Importantly, modulating fusion–fission balance or mitophagy pathways can disrupt bioenergetic stability, sensitize tumor cells to oxidative damage, and bolster responses to existing anticancer treatments. This expanding body of knowledge highlights the potential of targeting mitochondrial function not merely to suppress tumor growth, but also to overcome drug resistance and eliminate hard-to-treat cancer stem cell populations.
With this in mind, BMC Cancer is opening a Collection on Mitochondrial dynamics in cancer biology. Topics of interest include:
- Therapeutic targeting of mitochondrial fission and fusion
- Role of mitophagy in tumor progression
- Impact of mitochondrial dynamics on chemotherapy resistance
- Transfer of mitochondrial between cells in cancer
- Context-dependent remodelling of mitochondrial dynamics within inflammatory tumor microenvironments
- Interactions between inflammatory signaling, ROS, and mitochondrial function in cancer
All manuscripts submitted to this journal, including those submitted to collections and special issues, are assessed in line with our editorial policies and the journal’s peer review process. Reviewers and editors are required to declare competing interests and can be excluded from the peer review process if a competing interest exists.
Publishing Model: Open Access
Deadline: Oct 20, 2026
Please sign in or register for FREE
If you are a registered user on Research Communities by Springer Nature, please sign in