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

## TL;DR

This paper reports two rare cases of individuals with multiple cancer-related gene mutations and discusses the challenges in managing their care.

## Contribution

The paper presents uncommon combinations of pathogenic variants in cancer susceptibility genes and highlights the need for personalized management strategies.

## Key findings

- A 37-year-old woman had ATM and CHEK2 gene mutations along with breast cancer.
- A 53-year-old woman had BRCA1 and CDKN2A gene mutations and developed triple-negative breast cancer.
- Personalized treatment guidelines are needed for individuals with multiple cancer gene mutations.

## Abstract

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.

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.

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.