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Hereditary cancers

Latest research on advancing global genetic testing and patients care

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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. 
BMC Cancer has curated a collection of article showcasing the recent advancements in the field, including the importance of addressing global disparities in genetic testing and counselling.

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.

Articles


Supporting the power of genetic testing and counselling

Mapping psychosocial interventions in familial colorectal cancer: a rapid systematic review
Andrada Ciucă, Ramona Moldovan & Adriana Băban 

Mainstream germline genetic testing in men with metastatic prostate cancer: design and protocol for a multicenter observational study
Michiel Vlaming, Eveline M. A. Bleiker, Inge M. van Oort, Lambertus A. L. M. Kiemeney & Margreet G. E. M. Ausems 

Addressing global disparities in genetic testing and counselling: how can we bridge the gap?

Racial disparities in cancer genetic counseling encounters: study protocol for investigating patient-genetic counselor communication in the naturalistic clinical setting using a convergent mixed methods design
Nao Hagiwara, Nadia Harika, Erin P. Carmany, Yongyun Shin, Susan Eggly, Shawn C. T. Jones & John Quillin 

Oncologists’ perceptions of tumor genomic profiling and barriers to communicating secondary hereditary risks to African American cancer patients
Michael J. Hall, Paul A. D’Avanzo, Yana Chertock, Patrick J. A. Kelly, Jesse Brajuha, Katie Singley, Caseem C. Luck & Sarah B. Bass 

Economic evaluation of germline genetic testing for breast cancer in low- and middle-income countries: a systematic review
Sook Pin Goh, Siew Chin Ong & Jue Ern Chan 

A cost-benefit analysis of genetic screening test for breast cancer in Iran
Zahra Meshkani, Najmeh Moradi, Ali Aboutorabi, Hiro Farabi & Nazi Moini 

Screening of BRCA1/2 variants in Mauritanian breast cancer patients
Selma Mohamed Brahim, Ekht Elbenina Zein, Crystel Bonnet, Cheikh Tijani Hamed, Malak Salame, Mohamed Vall Zein, Meriem Khyatti, Ahmedou Tolba & Ahmed Houmeida

Increased prevalence of the founder BRCA1 c.5309G>T and recurrent BRCA2 c.1310_1313delAAGA mutations in breast cancer families from Northerstern region of Morocco: evidence of geographical specificity and high relevance for genetic counseling 
Rahma Melki, Marouane Melloul, Souria Aissaoui, Tijani EL Harroudi & Noureddine Boukhatem 

Germline mutations in BRCA1 and BRCA2 among Brazilian women with ovarian cancer treated in the Public Health SystemCaroline de Oliveira Ferreira, Vandré Cabral Gomes Carneiro & Carolline Araujo Mariz

Expanding Genetic Testing

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
Anna Öfverholm, Therese Törngren, Anna Rosén, Brita Arver, Zakaria Einbeigi, Karin Haraldsson, Anne Kinhult StÃ¥hlbom, Ekaterina Kuchinskaya, Annika Lindblom, Beatrice Melin, Ylva Paulsson-Karlsson, Marie Stenmark-Askmalm, Emma Tham, Anna von Wachenfeldt, Anders Kvist, Ã…ke Borg & Hans Ehrencrona

Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers
Sofie Joris, Philippe Giron, Catharina Olsen, Sara Seneca, Alexander Gheldof, Shula Staessens, Rajendra Bahadur Shahi, Sylvia De Brakeleer, Erik Teugels, Jacques De Grève & Frederik J. Hes 

Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays
Nicola Bassi, Henrikke Nilsen Hovland, Kashif Rasheed, Elisabeth Jarhelle, Nikara Pedersen, Eunice Kabanyana Mchaina, Sara Marie Engelsvold Bakkan, Nina Iversen, Hildegunn Høberg-Vetti, Bjørn Ivar Haukanes, Per Morten Knappskog, Ingvild Aukrust, Elisabet Ognedal & Marijke Van Ghelue 

Improving patients’ management

Exploring the utility and acceptability of Faecal immunochemical testing (FIT) as a novel intervention for the improvement of colorectal Cancer (CRC) surveillance in individuals with lynch syndrome (FIT for lynch study): a single-arm, prospective, multi-centre, non-randomised study
Anne Lincoln, Sally Benton, Carolyn Piggott, Bernard V. North, Jane Rigney, Caroline Young, Philip Quirke, Peter Sasieni & Kevin J. Monahan