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

Adewale Isaiah Oyewole, Funmilola Olanike Wuraola, Amir H Sohail, Titilope Ogunniyi, Chinyere Nwankwo, Zainab Oyindamola Adegbite, Dorcas Olaide Ebekue, Clement D Awe, Elizabeth N Christian, Kristina Diaz, Oluwasegun Afolaranmi, Clara N Lambert, Dan Sherman, George Gutierrez, Chinenye Iwuji, Juliet S Lumati
Ally H Mwanga, Jeanine Justiniano, Eric M Mbuguje, Balowa Musa, Deogratius B Mwanakulya, Andrew Swallow, Edith Kimambo, Eva Uiso, Swaleh Pazi, Latifa Rajab, Nashivai E Kivuyo, Larry Akoko, Azza Naif, Advera Ngaiza, Sara Nyagabona, Jerry Ndumbalo, Amos R Mwakigonja, Jim E Littlejohn, Seif Wibonela, Cameron E Gaskill
Kamlesh M Bhojwani, Ahmed Raheem, Urooba Tariq Khan, Fahad Javid, Daniyal Tanweer, Nawal Rehmani, Nadeem Ullah Khan, Saqib Raza Khan
Juzzel Ian Zerrudo, Patrick Vincent Aquino, Christian Joseph Tagal, Ma Erica Valdeabella, Christian Norwiz Buenviaje