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.