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

Ademola Oluwatosin Oyekan, Omolara Aminat Fatiregun, Muhammad Habeebu, Ifeanyichukwu Augustine Onyeodi, Adebayo Deborah Adeoluwa
Gustavo Hipólito Diaz Infantes, Edgar Fermín Yan Quiroz, Luis Fernando Meza Montoya, José Richard Tenazoa Villalobos
Oluwaseyi K Idowu, Adewumi O Alabi, Ibijoke A Idowu, Opeyemi I Olusunmade, Bright A Igbinoba, Abdulwahab Ajani, Mohammed Y M Habeebu, Jane U Igwilo, Kolawole O Aramide, Eyitayo O Alabi, Fatimah B Abdulkareem, Samuel U Eyesan, Suleiman O Giwa
Omolara Aminat Fatiregun, Yetunde Kuyinu, Adewunmi Alabi, Anthonia Sowunmi, Okunuga Ndidi, Popoola O Abiodun, Temitope Olatunji-Agunbiade, Oyekan Ademola, Nnodimele Onuigbo Atulomah, Awotayo Olajumoke
Anass Baladi, Mohammed El Fadli, Hassan Abdelilah Tafenzi, Kawtar El Bouaouidi, Nada Benhima, Leila Afani, Ismail Essâdi, Rhizlane Belbaraka