ecancermedicalscience

Case Report

Multilocus inherited neoplasia allele syndrome: report of uncommon combinations between CHEK2/ATM and BRCA1/CDKN2A genes

10 May 2024
Ricardo Ubilla, Michelle Zeppelin, Fernanda Martin

Background: Multilocus inherited neoplasia allelic syndrome (MINAS) is a recently coined term that describes the coexistence of two or more pathogenic variants (PVs) in cancer susceptibility genes (CSGs) in a single individual.

Case presentation: This article presents two cases of MINAS due to rare CSG combinations. The first was a 37-year-old woman carrying PVs in the mutated ataxia telangiectasia (ATM) and CHEK2 genes, with HER-2 positive unilateral breast cancer at 29. The second was a 53-year-old woman carrying PVs in the BRCA1 and CDKN2A genes, who presented with triple-negative breast cancer at 51. We describe their family history and treatment, where the lack of evidence for personalised management becomes evident.

Conclusion: Predicting the phenotypic effect of harbouring two variants in CSG is challenging. It is essential to encourage the notification of other cases and carry out functional studies to establish specific risks for affected individuals to develop personalised follow-up guidelines to reduce the associated morbimortality.

Related Articles

Rajsinh Bhosale, Lamiya Pirzada, Safiyyah Khan, Aqsa Zainab, Shravya Subashini Sivaramakrishnan, Areeba Mariam Mehmood, Pawan Sapkota Upadhya
Roberta Monteiro Batista Sarmento, José Roberto Lapa e Silva, Gustavo Arantes Rosa Maciel, Claudia Ferrer, José Bines
Monali Swain, Sarbani Ghosh-Laskar, Lachlan McDowell, Christina Henson, Pierluigi Bonomo, Sadhana Kannan, Timothy Malouff, Akihiro Homma, Alexander Rühle, Anna Lee, Francesca Caparrotti, James Bates, Jorgen Johansen, Juliette Thariat, Marco Ferrari, Miguel Mayo-Yáñez, Sarah Hamilton, Sue S Yom, Hisham Mehanna, Petr Szturz
Catalina Vargas Añazco, Álvaro Torres Soto, Renata Soto Díaz, Martín Urra, Maite Azócar, Mauricio Camus Appuhn, Francisco Dominguez Covarrubias, César Sánchez Rojel, Francisco Acevedo Claros
Ahmed Sohaib, Enas Elkhouly, Gehad Elsheikh, Mahmoud Sweid, Alaa Shawkat, Hany Moawad, Muhammad Abulfadl, Amira Hegazy