Micol R, Ben Slama L, Suarez F, Le Mignot L, Beaute J, Mahlaoui N, Dubois d’Enghien C, Lauge A, Hall J, Couturier J, et al. Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. J Allergy Clin Immunol. 2011;128(2):382–9.e1.
Article
PubMed
Google Scholar
Suarez F, Mahlaoui N, Canioni D, Andriamanga C, Dubois d’Enghien C, Brousse N, Jais JP, Fischer A, Hermine O, Stoppa-Lyonnet D. 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(2):202–8.
Article
PubMed
Google Scholar
Taylor AM, Metcalfe JA, Thick J, Mak YF. Leukemia and lymphoma in ataxia telangiectasia. Blood. 1996;87(2):423–38.
CAS
PubMed
Google Scholar
Borresen AL, Andersen TI, Tretli S, Heiberg A, Moller P. Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia. Genes Chromosomes Cancer. 1990;2(4):339–40.
Article
CAS
PubMed
Google Scholar
Swift M, Chase CL, Morrell D. Cancer predisposition of ataxia-telangiectasia heterozygotes. Cancer Genet Cytogenet. 1990;46(1):21–7.
Article
CAS
PubMed
Google Scholar
Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst. 2005;97(11):813–22.
Article
CAS
PubMed
Google Scholar
Andrieu N, Cavaciuti E, Laugé A, Ossian K, Janin N, Hall J, Stoppa-Lyonnet D. Ataxia-telangiectasia genes and breast cancer risk in a French family study. J Dairy Res. 2005;72 Spec No:73–80.
Article
PubMed
Google Scholar
Renault AL, Mebirouk N, Cavaciuti E, Le Gal D, Lecarpentier J, d’Enghien CD, Laugé A, Dondon MG, Labbé M, Lesca G, et al. Telomere length, ATM mutation status and cancer risk in ataxia-telangiectasia families. Carcinogenesis. 2017;38(10):994–1003.
Article
PubMed
PubMed Central
Google Scholar
Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006;38(8):873–5.
Article
CAS
PubMed
Google Scholar
Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet. 2009;85(4):427–46.
Article
CAS
PubMed
PubMed Central
Google Scholar
Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, et al. Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med. 2015;372(23):2243–57.
Article
CAS
PubMed
PubMed Central
Google Scholar
Daly MB, Pilarski R, Berry M, Buys SS, Farmer M, Friedman S, Garber JE, Kauff ND, Khan S, Klein C, et al. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017. J Natl Compr Cancer Netw. 2017;15(1):9–20.
Article
CAS
Google Scholar
Goldgar DE, Healey S, Dowty JG, Da Silva L, Chen X, Spurdle AB, Terry MB, Daly MJ, Buys SM, Southey MC, et al. Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Res. 2011;13(4):R73.
Article
CAS
PubMed
PubMed Central
Google Scholar
van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA. Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. Clin Genet. 2016;90(2):105–17.
Article
CAS
PubMed
Google Scholar
Balleine RL, Murali R, Bilous AM, Farshid G, Waring P, Provan P, Byth K, Thorne H. kConFab Investigators, Kirk JA. Histopathological features of breast cancer in carriers of ATM gene variants. Histopathology. 2006;49(5):523–32.
Article
CAS
PubMed
Google Scholar
Waddell N, Cocciardi S, Johnson J, Healey S, Marsh A, Riley J, da Silva L, Vargas AC, Reid L. kConFab Investigators, et al. Gene expression profiling of formalin-fixed, paraffin-embedded familial breast tumours using the whole genome-DASL assay. J Pathol. 2010;221(4):452–61.
CAS
PubMed
Google Scholar
Bubien V, Bonnet F, Dupiot-Chiron J, Barouk-Simonet E, Jones N, de Reynies A, MacGrogan G, Sevenet N, Letouzé E, Longy M. Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: a proof of principle study. Genes Chromosomes Cancer. 2017;56(11):788–99.
Article
CAS
PubMed
Google Scholar
Popova T, Manie E, Rieunier G, Caux-Moncoutier V, Tirapo C, Dubois T, Delattre O, Sigal-Zafrani B, Bollet M, Longy M, et al. Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation. Cancer Res. 2012;72(21):5454–62.
Article
CAS
PubMed
Google Scholar
Janin N, Andrieu N, Ossian K, Lauge A, Croquette MF, Griscelli C, Debre M, Bressac-de-Paillerets B, Aurias A, Stoppa-Lyonnet D. Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families. Br J Cancer. 1999;80(7):1042–5.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sinilnikova OM, Dondon MG, Eon-Marchais S, Damiola F, Barjhoux L, Marcou M, Verny-Pierre C, Sornin V, Toulemonde L, Beauvallet J, 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
Mann GJ, Thorne H, Balleine RL, Butow PN, Clarke CL, Edkins E, Evans GM, Fereday S, Haan E, Gattas M, et al. Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Res. 2006;8(1):R12.
Article
PubMed
PubMed Central
Google Scholar
Tavtigian SV, Greenblatt MS, Lesueur F, Byrnes GB, Group IUGVW. In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat. 2008;29(11):1327–36.
Article
CAS
PubMed
PubMed Central
Google Scholar
Elston CW, Ellis IO, Pinder SE. Pathological prognostic factors in breast cancer. Crit Rev Oncol Hematol. 1999;31(3):209–23.
Article
CAS
PubMed
Google Scholar
Böcker W. WHO classification of breast tumors and tumors of the female genital organs: pathology and genetics [in German]. Verh Dtsch Ges Pathol. 2002;86:116–9.
PubMed
Google Scholar
Goldhirsch A, Winer EP, Coates AS, Gelber RD, Piccart-Gebhart M, Thürlimann B, Senn HJ. Panel members. Personalizing the treatment of women with early breast cancer: highlights of the St Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2013. Ann Oncol. 2013;24(9):2206–23.
Article
CAS
PubMed
PubMed Central
Google Scholar
Popova T, Manie E, Stoppa-Lyonnet D, Rigaill G, Barillot E, Stern MH. Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays. Genome Biol. 2009;10(11):R128.
Article
PubMed
PubMed Central
Google Scholar
La Rosa P, Viara E, Hupe P, Pierron G, Liva S, Neuvial P, Brito I, Lair S, Servant N, Robine N, et al. VAMP: visualization and analysis of array-CGH, transcriptome and other molecular profiles. Bioinformatics. 2006;22(17):2066–73.
Article
CAS
PubMed
Google Scholar
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754–60.
Article
CAS
PubMed
PubMed Central
Google Scholar
Shen R, Seshan VE. FACETS: allele-specific copy number and clonal heterogeneity analysis tool for high-throughput DNA sequencing. Nucleic Acids Res. 2016;44(16):e131.
Article
PubMed
PubMed Central
Google Scholar
Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L, Miller CA, Mardis ER, Ding L, Wilson RK. VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res. 2012;22(3):568–76.
Article
CAS
PubMed
PubMed Central
Google Scholar
The Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature. 2012;490(7418):61–70.
Article
PubMed Central
Google Scholar
Valla M, Vatten LJ, Engstrom MJ, Haugen OA, Akslen LA, Bjorngaard JH, Hagen AI, Ytterhus B, Bofin AM, Opdahl S. Molecular subtypes of breast cancer: long-term incidence trends and prognostic differences. Cancer Epidemiol Biomark Prev. 2016;25(12):1625–34.
Article
CAS
Google Scholar
Nielsen TO, Parker JS, Leung S, Voduc D, Ebbert M, Vickery T, Davies SR, Snider J, Stijleman IJ, Reed J, et al. A comparison of PAM50 intrinsic subtyping with immunohistochemistry and clinical prognostic factors in tamoxifen-treated estrogen receptor-positive breast cancer. Clin Cancer Res. 2010;16(21):5222–32.
Article
CAS
PubMed
PubMed Central
Google Scholar
Paik S, Tang G, Shak S, Kim C, Baker J, Kim W, Cronin M, Baehner FL, Watson D, Bryant J, et al. Gene expression and benefit of chemotherapy in women with node-negative, estrogen receptor-positive breast cancer. J Clin Oncol. 2006;24(23):3726–34.
Article
CAS
PubMed
Google Scholar
Manie E, Popova T, Battistella A, Tarabeux J, Caux-Moncoutier V, Golmard L, Smith NK, Mueller CR, Mariani O, Sigal-Zafrani B, et al. Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas. Int J Cancer. 2016;138(4):891–900.
Article
CAS
PubMed
Google Scholar
Curtis C, Shah SP, Chin SF, Turashvili G, Rueda OM, Dunning MJ, Speed D, Lynch AG, Samarajiwa S, Yuan Y, et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature. 2012;486(7403):346–52.
Article
CAS
PubMed
PubMed Central
Google Scholar
Pecuchet N, Popova T, Manie E, Lucchesi C, Battistella A, Vincent-Salomon A, Caux-Moncoutier V, Bollet M, Sigal-Zafrani B, Sastre-Garau X, et al. Loss of heterozygosity at 13q13 and 14q32 predicts BRCA2 inactivation in luminal breast carcinomas. Int J Cancer. 2013;133(12):2834–42.
CAS
PubMed
Google Scholar
Cerami E, Gao J, Dogrusoz U, Gross BE, Sumer SO, Aksoy BA, Jacobsen A, Byrne CJ, Heuer ML, Larsson E, et al. The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov. 2012;2(5):401–4.
Article
PubMed
Google Scholar
Decker B, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Ahmed S, Baynes C, Conroy DM, et al. Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. J Med Genet. 2017;54(11):732–41.
Article
PubMed
PubMed Central
Google Scholar
Cybulski C, Kluzniak W, Huzarski T, Wokolorczyk D, Kashyap A, Jakubowska A, Szwiec M, Byrski T, Debniak T, Gorski B, et al. Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis. Lancet Oncol. 2015;16(6):638–44.
Article
CAS
PubMed
Google Scholar
Musolino A, Bella MA, Bortesi B, Michiara M, Naldi N, Zanelli P, Capelletti M, Pezzuolo D, Camisa R, Savi M, et al. BRCA mutations, molecular markers, and clinical variables in early-onset breast cancer: a population-based study. Breast. 2007;16(3):280–92.
Article
PubMed
Google Scholar
Cybulski C, Huzarski T, Byrski T, Gronwald J, Debniak T, Jakubowska A, Górski B, Wokołorczyk D, Masojć B, Narod SA, et al. Estrogen receptor status in CHEK2-positive breast cancers: implications for chemoprevention. Clin Genet. 2009;75(1):72–8.
Article
CAS
PubMed
Google Scholar
Keeney MG, Couch FJ, Visscher DW, Lindor NM. Non-BRCA familial breast cancer: review of reported pathology and molecular findings. Pathology. 2017;49(4):363–70.
Article
CAS
PubMed
Google Scholar
Massink MP, Kooi IE, Martens JW, Waisfisz Q, Meijers-Heijboer H. Genomic profiling of CHEK2*1100delC-mutated breast carcinomas. BMC Cancer. 2015;15:877.
Article
PubMed
PubMed Central
Google Scholar
Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Spurdle A, Robson M, Sherman M, et al. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomark Prev. 2012;21(1):134–47.
Article
CAS
Google Scholar
Kaurah P, MacMillan A, Boyd N, Senz J, De Luca A, Chun N, Suriano G, Zaor S, Van Manen L, Gilpin C, et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA. 2007;297(21):2360–72.
Article
CAS
PubMed
Google Scholar
Banneau G, Guedj M, MacGrogan G, de Mascarel I, Velasco V, Schiappa R, Bonadona V, David A, Dugast C, Gilbert-Dussardier B, et al. Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations. Breast Cancer Res. 2010;12(4):R63.
Article
PubMed
PubMed Central
Google Scholar
Abkevich V, Timms KM, Hennessy BT, Potter J, Carey MS, Meyer LA, Smith-McCune K, Broaddus R, Lu KH, Chen J, et al. Patterns of genomic loss of heterozygosity predict homologous recombination repair defects in epithelial ovarian cancer. Br J Cancer. 2012;107(10):1776–82.
Article
CAS
PubMed
PubMed Central
Google Scholar
Polak P, Kim J, Braunstein LZ, Karlic R, Haradhavala NJ, Tiao G, Rosebrock D, Livitz D, Kubler K, Mouw KW, et al. A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer. Nat Genet. 2017;49(10):1476–86.
Article
CAS
PubMed
Google Scholar
Mateo J, Carreira S, Sandhu S, Miranda S, Mossop H, Perez-Lopez R, Nava Rodrigues D, Robinson D, Omlin A, Tunariu N, et al. DNA-repair defects and olaparib in metastatic prostate cancer. N Engl J Med. 2015;373(18):1697–708.
Article
CAS
PubMed
PubMed Central
Google Scholar
Choi M, Kipps T, Kurzrock R. ATM mutations in cancer: therapeutic implications. Mol Cancer Ther. 2016;15(8):1781–91.
Article
CAS
PubMed
Google Scholar
Sagona AP, Stenmark H. Cytokinesis and cancer. FEBS Lett. 2010;584(12):2652–61.
Article
CAS
PubMed
Google Scholar
Jonsdottir AB, Stefansson OA, Bjornsson J, Jonasson JG, Ogmundsdottir HM, Eyfjord JE. Tetraploidy in BRCA2 breast tumours. Eur J Cancer. 2012;48(3):305–10.
Article
CAS
PubMed
Google Scholar
di Iasio MG, Calin G, Tibiletti MG, Vorechovsky I, Benediktsson KP, Taramelli R, Barbanti-Brodano G, Negrini M. Refinement of the LOH region 1 at 11q23.1 deleted in human breast carcinomas and sublocalization of 11 expressed sequence tags within the refined region. Oncogene. 1999;18(8):1635–8.
Article
CAS
PubMed
Google Scholar
Rio PG, Pernin D, Bay JO, Albuisson E, Kwiatkowski F, De Latour M, Bernard-Gallon DJ, Bignon YJ. Loss of heterozygosity of BRCA1, BRCA2 and ATM genes in sporadic invasive ductal breast carcinoma. Int J Oncol. 1998;13(4):849–53.
CAS
PubMed
Google Scholar
Knudsen ES, Knudsen KE. Tailoring to RB: tumour suppressor status and therapeutic response. Nat Rev Cancer. 2008;8(9):714–24.
Article
CAS
PubMed
PubMed Central
Google Scholar
Koide N, Kasamatsu A, Endo-Sakamoto Y, Ishida S, Shimizu T, Kimura Y, Miyamoto I, Yoshimura S, Shiiba M, Tanzawa H, et al. Evidence for critical role of lymphocyte cytosolic protein 1 in oral cancer. Sci Rep. 2017;7:43379.
Article
CAS
PubMed
PubMed Central
Google Scholar
Cho JS, Park MH, Lee JS, Yoon JH. Reduced MUC4 expression is a late event in breast carcinogenesis and is correlated with increased infiltration of immune cells as well as promoter hypermethylation in invasive breast carcinoma. Appl Immunohistochem Mol Morphol. 2015;23(1):44–53.
Article
CAS
PubMed
Google Scholar
Marchio C, Geyer FC, Ng CK, Piscuoglio S, De Filippo MR, Cupo M, Schultheis AM, Lim RS, Burke KA, Guerini-Rocco E, et al. The genetic landscape of breast carcinomas with neuroendocrine differentiation. J Pathol. 2017;241(3):405–19.
Article
CAS
PubMed
Google Scholar
Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S, Biankin AV, Bignell GR, Bolli N, Borg A, Borresen-Dale AL, et al. Signatures of mutational processes in human cancer. Nature. 2013;500(7463):415–21.
Article
CAS
PubMed
PubMed Central
Google Scholar