Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016;11:159.

Article  PubMed  PubMed Central  Google Scholar 

Amirifar P, Ranjouri MR, Yazdani R, Abolhassani H, Aghamohammadi A. Ataxia-telangiectasia: A review of clinical features and molecular pathology. Pediatr Allergy Immunol. 2019;30:277–88.

Article  PubMed  Google Scholar 

Swift M, Morrell D, Massey RB, Chase CL. Incidence of cancer in 161 families affected by ataxia–telangiectasia. N Engl J Med. 1991;325:1831–6.

Article  CAS  PubMed  Google Scholar 

Peterson RD, Funkhouser JD, Tuck-Muller CM, Gatti RA. Cancer susceptibility in ataxia-telangiectasia. Leukemia. 1992;6(Suppl 1):8–13.

PubMed  Google Scholar 

Olsen JH, Hahnemann JM, Borresen-Dale A-L, Brondum-Nielsen K, Hammarstrom L, Kleinerman R, et al. Cancer in patients with Ataxia-Telangiectasia and in their relatives in the nordic countries. JNCI J Natl Cancer Inst. 2001;93:121–7.

Article  CAS  PubMed  Google Scholar 

Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, et al. Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. J Allergy Clin Immunol. 2011;128:382–e3891.

Article  PubMed  Google Scholar 

Suarez F, Mahlaoui N, Canioni D, Andriamanga C, Dubois d’Enghien C, Brousse N, et al. Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French National registry of primary immune deficiencies. J Clin Oncol. 2015;33:202–8.

Article  PubMed  Google Scholar 

Lindahl H, Svensson E, Danielsson A, Puschmann A, Svenningson P, Tesi B, et al. The clinical spectrum of ataxia telangiectasia in a cohort in Sweden. Heliyon. 2024;10:e26073.

Article  CAS  PubMed  PubMed Central  Google Scholar 

The Breast Cancer Susceptibility Collaboration (UK), Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006;38:873–5.

Article  Google Scholar 

Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT. The incidence and gene frequency of ataxia-telangiectasia in the united States. Am J Hum Genet. 1986;39:573–83.

CAS  PubMed  PubMed Central  Google Scholar 

Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, et al. Breast Cancer risk Genes — Association analysis in more than 113,000 women. N Engl J Med. 2021;384:428–39.

Article  Google Scholar 

Hu C, Hart SN, Gnanaolivu R, Huang H, Lee KY, Na J, et al. A Population-Based study of genes previously implicated in breast Cancer. N Engl J Med. 2021;384:440–51.

Article  PubMed  PubMed Central  Google Scholar 

Easton DF, Pharoah PDP, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, et al. Gene-Panel sequencing and the prediction of Breast-Cancer risk. N Engl J Med. 2015;372:2243–57.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast Cancer. Am J Hum Genet. 2009;85:427–46.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Girard E, Eon-Marchais S, Olaso R, Renault A, Damiola F, Dondon M, et al. Familial breast cancer and DNA repair genes: insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. Int J Cancer. 2019;144:1962–74.

Article  CAS  PubMed  Google Scholar 

Choi M, Kipps T, Kurzrock R. ATM mutations in cancer: therapeutic implications. Mol Cancer Ther. 2016;15:1781–91.

Article  CAS  PubMed  Google Scholar 

Lesueur F, Easton DF, Renault A-L, T SV, B JL, K-J Z, et al. First international workshop of the ATM and cancer risk group (4–5 December 2019). Fam Cancer. 2022;21:211–27.

Renault A-L, Mebirouk N, Fuhrmann L, Bataillon G, Cavaciuti E, Le Gal D, et al. Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers. Breast Cancer Res. 2018;20:1–18.

Article  Google Scholar 

Weigelt B, Bi R, Kumar R, Blecua P, M DL, G FC, et al. The landscape of somatic genetic alterations in breast cancers from ATM germline mutation carriers. JNCI: J Natl Cancer Inst. 2018;110:1030–4.

Southey MC, Dowty JG, Riaz M, Steen JA, Renault A-L, Tucker K, et al. Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing. NPJ Breast Cancer. 2021;7:153.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Breast Cancer Association Consortium, Mavaddat N, Dorling L, Carvalho S, Allen J, González-Neira A, et al. Pathology of tumors associated with pathogenic germline variants in 9 breast Cancer susceptibility genes. JAMA Oncol. 2022;8:e216744.

Article  PubMed Central  Google Scholar 

Tate JG, Bamford S, Jubb HC, Sondka Z, Beare DM, Bindal N, et al. COSMIC: the catalogue of somatic mutations in Cancer. Nucleic Acids Res. 2019;47:D941–7.

Article  CAS  PubMed  Google Scholar 

Polak P, Kim J, Braunstein LZ, Tiao G, Karlic R, Rosebrock D, et al. A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer. Nat Genet. 2017;49:1476–86.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shamma A, Suzuki M, Hayashi N, Kobayashi M, Sasaki N, Nishiuchi T, et al. ATM mediates pRB function to control DNMT1 protein stability and DNA methylation. Mol Cell Biol. 2013;33:3113–24.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Janin N, Andrieu N, Ossian K, Lauge A, Croquette MF, Griscelli C, et al. Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families. Br J Cancer. 1999;80:1042–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cavaciuti E, Lauge A, Janin N, Ossian K, Hall J, Stoppa-Lyonnet D, et al. Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families. Genes Chromosom Cancer. 2005;42:1–9.

Article  CAS  PubMed  Google Scholar 

Renault A-L, Mebirouk N, Cavaciuti E, Le Gal D, Lecarpentier J, d’Enghien CD, et al. Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families. Carcinogenesis. 2017;38:994–1003.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sinilnikova OM, Dondon M-G, Eon-Marchais S, Damiola F, Barjhoux L, Marcou M, et al. GENESIS: a French National resource to study the missing heritability of breast cancer. BMC Cancer. 2016;16:13.

Article  PubMed  PubMed Central  Google Scholar 

John EM, Hopper JL, Beck JC, Knight JA, Neuhausen SL, Senie RT, et al. The breast Cancer family registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer. Breast Cancer Res. 2004;6:R375–389.

Article  PubMed  PubMed Central  Google Scholar 

Milne RL, Fletcher AS, MacInnis RJ, Hodge AM, Hopkins AH, Bassett JK, et al. Cohort profile: the Melbourne collaborative cohort study (Health 2020). Int J Epidemiol. 2017;46:1757–i1757.

Article  CAS  PubMed  Google Scholar 

Dite GS, Jenkins MA, Southey MC, Hocking JS, Giles GG, McCredie MRE, et al. Familial risks, Early-Onset breast cancer, and BRCA1 and BRCA2 germline mutations. JNCI J Natl Cancer Inst. 2003;95:448–57.

Article  CAS  PubMed  Google Scholar 

Renault A-L, Dowty JG, Steen JA, Li S, Winship IM, Giles GG, et al. Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM. Breast Cancer Res. 2022;24:24.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human genome. Nu