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Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

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Renault, Anne-Laure Mebirouk, Noura Fuhrmann, Laetitia Bataillon, Guillaume Cavaciuti, Eve Janin, Nicolas [UCL] Lesueur, Fabienne

BACKGROUND: The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo genetic testing. So far, no clear histopathological and molecular features of breast tumours occurring in ATM deleterious variant carriers have been described, but identification of an ATM-associated tumour signature may help in patient management. METHODS: To characterise hallmarks of ATM-associated tumours, we performed systematic pathology review of tumours from 21 participants from ataxia-telangiectasia families and 18 participants from HBOC families, as well as copy number profiling on a subset of 23 tumours. Morphology of ATM-associated tumours was compared with that of 599 patients with no BRCA1 and BRCA2 mutations from a hospital-based series, as well as with data from The Cancer Genome Atlas. Absolute copy number and loss of heterozygosity (LOH) profiles were obtained from the OncoScan SNP array. In addition, we performed whole-genome sequencing on four tumours from ATM loss-of-function variant carriers with available frozen material. RESULTS: We found that ATM-associated tumours belong mostly to the luminal B subtype, are tetraploid and show LOH at the ATM locus at 11q22-23. Unlike tumours in which BRCA1 or BRCA2 is inactivated, tumours arising in ATM deleterious variant carriers are not associated with increased large-scale genomic instability as measured by the large-scale state transitions signature. Losses at 13q14.11-q14.3, 17p13.2-p12, 21p11.2-p11.1 and 22q11.23 were observed. Somatic alterations at these loci may therefore represent biomarkers for ATM testing and harbour driver mutations in potentially 'druggable' genes that would allow patients to be directed towards tailored therapeutic strategies. CONCLUSIONS: Although ATM is involved in the DNA damage response, ATM-associated tumours are distinct from BRCA1-associated tumours in terms of morphological characteristics and genomic alterations, and they are also distinguishable from sporadic breast tumours, thus opening up the possibility to identify ATM variant carriers outside the ataxia-telangiectasia disorder and direct them towards effective cancer risk management and therapeutic strategies.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès libre
Publication date 2018
Language Anglais
Journal information "Breast Cancer Research" - Vol. 20, no.1, p. 28 [1-18] (2018)
Peer reviewed yes
Publisher BioMed Central Ltd. ((United Kingdom) London)
issn 1465-5411
e-issn 1465-542X
Publication status Publié
Affiliation UCL - (SLuc) Centre de génétique médicale UCL
MESH Subject Adult ; Aged ; Ataxia Telangiectasia ; Ataxia Telangiectasia Mutated Proteins ; BRCA1 Protein ; BRCA2 Protein ; Breast Neoplasms ; Breast Neoplasms, Male ; DNA Damage ; DNA Repair ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Genomics ; Germ-Line Mutation ; Humans ; Loss of Heterozygosity ; Male ; Middle Aged ; Sequence Deletion
Keywords ATM ; Breast tumour ; Copy number ; Genetic instability ; Genomic signature ; Loss of heterozygosity ; OncoScan array ; Pathology
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Bibliographic reference Renault, Anne-Laure ; Mebirouk, Noura ; Fuhrmann, Laetitia ; Bataillon, Guillaume ; Cavaciuti, Eve ; et. al. Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.. In: Breast Cancer Research, Vol. 20, no.1, p. 28 [1-18] (2018)
Permanent URL http://hdl.handle.net/2078.1/219039