Riboldi GM, Samanta D, Frucht S (2021) Ataxia Telangiectasia 2020. StatPearls [Internet]. StatPearls Publishing, Treasure Island

Google Scholar 

Swift M, Reitnauer PJ, Morrell D, Chase CL (1987) Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med 316(21):1289–1294. https://doi.org/10.1056/NEJM198705213162101

Article  CAS  PubMed  Google Scholar 

Janin N, Andrieu N, Ossian K, Laugé A, Croquette M-F, Griscelli C et al (1999) Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families. Br J Cancer 80(7):1042–1045

Article  CAS  Google Scholar 

Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A et al (2005) Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 97(11):813–822. https://doi.org/10.1093/jnci/dji141

Article  CAS  PubMed  Google Scholar 

Swift M, Morrell D, Massey RB, Chase CL (1991) Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 325(26):1831–1836. https://doi.org/10.1056/NEJM199112263252602

Article  CAS  PubMed  Google Scholar 

Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM et al (2021) Genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw 19(1):77–102. https://doi.org/10.6004/jnccn.2021.0001

Article  CAS  PubMed  Google Scholar 

van Os NJH, Roeleveld N, Weemaes CMR, Jongmans MCJ, Janssens GO, Taylor AMR et al (2016) Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. Clin Genet 90(2):105–117

Article  Google Scholar 

Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M et al (2016) PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. J Med Genet 53(12):800–811

Article  CAS  Google Scholar 

Goldgar DE, Healey S, Dowty JG, Da Silva L, Chen X, Spurdle AB et al (2011) Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Res 13:R73. https://doi.org/10.1186/bcr2919

Article  CAS  PubMed  PubMed Central  Google Scholar 

Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J et al (2017) Associations between cancer predisposition testing panel genes and breast cancer. JAMA Oncol 3(9):1190–1196

Article  Google Scholar 

Hu C, Hart SN, Gnanaolivu R, Huang H, Lee KY, Na J et al (2021) A population-based study of genes previously implicated in breast cancer. N Engl J Med 384(5):440–451. https://doi.org/10.1056/NEJMoa2005936

Article  PubMed  PubMed Central  Google Scholar 

Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C et al (2021) Breast cancer risk genes - association analysis in more than 113,000 women. N Engl J Med 384(5):428–439. https://doi.org/10.1056/NEJMoa1913948

Article  Google Scholar 

Lindeman GJ, Hiew M, Visvader JE, Leary J, Field M, Gaff CL et al (2004) Frequency of the ATM IVS10-6T→G variant in Australian multiple-case breast cancer families. Br Can Res 6(4):R401

Article  CAS  Google Scholar 

Laitman Y, Boker-Keinan L, Berkenstadt M, Liphsitz I, Weissglas-Volkov D, Ries-Levavi L et al (2016) The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers. Can Genet 209(3):70–74

Article  CAS  Google Scholar 

Rantapero T, Wahlfors T, Kähler A, Hultman C, Lindberg J, Tammela TL et al (2020) Inherited DNA repair gene mutations in men with lethal prostate cancer. Genes (Basel) 11(3):314–326. https://doi.org/10.3390/genes11030314

Article  CAS  Google Scholar 

Nassar AH, Abou Alaiwi S, AlDubayan SH, Moore N, Mouw KW, Kwiatkowski DJ et al (2020) Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma. Genet Med 22(4):709–718. https://doi.org/10.1038/s41436-019-0720-x

Article  CAS  PubMed  Google Scholar 

Helgason H, Rafnar T, Olafsdottir HS, Jonasson JG, Sigurdsson A, Stacey SN et al (2015) Loss-of-function variants in ATM confer risk of gastric cancer. Nat Genet 47(8):906–910. https://doi.org/10.1038/ng.3342

Article  CAS  PubMed  Google Scholar 

Huang D-S, Tao H-Q, He X-J, Long M, Yu S, Xia Y-J et al (2015) Prevalence of deleterious ATM germline mutations in gastric cancer patients. Oncotarget 6(38):40953–40958

Article  Google Scholar 

Samadder NJ, Riegert-Johnson D, Boardman L, Rhodes D, Wick M, Okuno S et al (2021) Comparison of universal genetic testing vs guideline-directed targeted testing for patients with hereditary cancer syndrome. JAMA Oncol 7(2):230–237. https://doi.org/10.1001/jamaoncol.2020.6252 (Erratum.In:doi:10.1001/jamaoncol.2020.7373)

Article  PubMed  Google Scholar 

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho Y-Y et al (2017) Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria. Genet Med 19(10):1105–1117

Article  Google Scholar 

Spring K, Ahangari F, Scott SP, Waring P, Purdie DM, Chen PC et al (2002) Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. Nat Genet 32(1):185–190. https://doi.org/10.1038/ng958

Article  CAS  PubMed  Google Scholar 

Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X et al (2002) Dominant negative ATM mutations in breast cancer families. J Nat Can Inst 94(3):205–215

Article  Google Scholar 

Cavaciuti E, Laugé A, Janin N, Ossian K, Hall J, Stoppa-Lyonnet D et al (2005) Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families. Genes Chrom Can 42(1):1–9. https://doi.org/10.1002/gcc.20101

Article  CAS  Google Scholar 

Marabelli M, Cheng S-C, Parmigiani G (2016) Penetrance of ATM gene mutations in breast cancer: a meta-analysis of different measures of risk. Genet Epidemiol 40(5):425–431

Article  Google Scholar 

Weitzel J, Neuhausen SL, Adamson A, Tao S, Ricker C, Maoz A et al (2019) Pathogenic and likely pathogenic variants in PALB2, CHEK2 and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer. Cancer 125(16):2829–2836

Article  CAS  Google Scholar 

Fostira F, Kostantopoulou I, Apostolou P, Papamentzelopoulou MS, Papadimitriou C, Faliakou E et al (2020) One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene. J Med Genet 57(1):53–61

Article  CAS  Google Scholar 

Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T et al (2017) Genomic analysis of inherited breast cancer among Palestinian women: genetic heterogeneity and a founder mutation in TP53. Int J Cancer 141(4):750–756

Article  CAS  Google Scholar 

Soukupova J, Dundr P, Kleibl Z, Pohlreich P (2008) Contribution of mutations in ATM to breast cancer development in the Czech population. Oncol Rep 19(6):1505–1510

CAS  PubMed  Google Scholar 

Hall MJ, Bernhisel R, Hughes E, Larson K, Rosenthal ET, Singh NA et al (2021) Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers. Cancer Prev Res (Phila) 14(4):433–440. https://doi.org/10.1158/1940-6207.CAPR-20-0448

Article  CAS  Google Scholar 

Hsu FC, Roberts NJ, Childs E, Porter N, Rabe KG, Borgida A et al (2021) Risk of pancreatic cancer among individuals with pathogenic variants in the ATM gene. JAMA Oncol 7(11):1664–1668. https://doi.org/10.1001/jamaoncol.2021.3701

Article  PubMed  Google Scholar 

Goggins M, Overbeek KA, Brand R, Syngal S, Del Chiaro M, Bartsch DK, et al (2020) International Cancer of the Pancreas Screening (CAPS) consortium. Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium. Gut 69(1):7–17. https://doi.org/10.1136/gutjnl-2019-319352. Erratum in: Gut. 2020; 69(6):e3

Esai Selvan M, Zauderer MG, Rudin CM, Jones S, Mukherjee S, Offit K et al (2020) Inherited rare, deleterious variants in ATM increase lung adenocarcinoma risk. J Thor Oncol 15(12):1871–1879

Article  CAS  Google Scholar