nach oben

Erschienen in:

14.06.2021 | Review

First international workshop of the ATM and cancer risk group (4-5 December 2019)

verfasst von: Fabienne Lesueur, Douglas F. Easton, Anne-Laure Renault, Sean V. Tavtigian, Jonine L. Bernstein, Zsofia Kote-Jarai, Rosalind A. Eeles, Dijana Plaseska-Karanfia, Lidia Feliubadaló, Banu Arun, Natalie Herold, Beatrix Versmold, Rita Katharina Schmutzler, Tú Nguyen-Dumont, Melissa C. Southey, Leila Dorling, Alison M. Dunning, Paola Ghiorzo, Bruna Samia Dalmasso, Eve Cavaciuti, Dorothée Le Gal, Nicholas J. Roberts, Mev Dominguez-Valentin, Matti Rookus, Alexander M. R. Taylor, Alisa M. Goldstein, David E. Goldgar, Dominique Stoppa-Lyonnet, Nadine Andrieu, Spanish ATM working group, GC-HBOC, CARRIERS and Ambry Groups

Erschienen in: Familial Cancer | Ausgabe 2/2022

Einloggen, um Zugang zu erhalten

Abstract

The first International Workshop of the ATM and Cancer Risk group focusing on the role of Ataxia-Telangiectasia Mutated (ATM) gene in cancer was held on December 4 and 5, 2019 at Institut Curie in Paris, France. It was motivated by the fact that germline ATM pathogenic variants have been found to be associated with different cancer types. However, due to the lack of precise age-, sex-, and site-specific risk estimates, no consensus on management guidelines for variant carriers exists, and the clinical utility of ATM variant testing is uncertain. The meeting brought together epidemiologists, geneticists, biologists and clinicians to review current knowledge and on-going challenges related to ATM and cancer risk. This report summarizes the meeting sessions content that covered the latest results in family-based and population-based studies, the importance of accurate variant classification, the effect of radiation exposures for ATM variant carriers, and the characteristics of ATM-deficient tumors. The report concludes that ATM variant carriers outside of the context of Ataxia-Telangiectasia may benefit from effective cancer risk management and therapeutic strategies and that efforts to set up large-scale studies in the international framework to achieve this goal are necessary.

Nur mit Berechtigung zugänglich

Boder E, Sedgwick RP (1958) Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 21(4):526–554CrossRef

Taylor AM, Edwards MJ (1982) Malignancy, DNA damage and chromosomal aberrations in ataxia telangiectasia. IARC Sci Publ 39:119–126

Enns L, Barley RD, Paterson MC, Mirzayans R (1998) Radiosensitivity in ataxia telangiectasia fibroblasts is not associated with deregulated apoptosis. Radiat Res 150(1):11–16CrossRef

Gatei M, Young D, Cerosaletti KM, Desai-Mehta A, Spring K, Kozlov S, Lavin MF, Gatti RA, Concannon P, Khanna K (2000) ATM-dependent phosphorylation of nibrin in response to radiation exposure. Nat Genet 25(1):115–119. https://doi.org/10.1038/75508CrossRefPubMed

Micol R, Ben Slama L, Suarez F, Le Mignot L, Beaute J, Mahlaoui N, Dubois d’Enghien C, Lauge A, Hall J, Couturier J, Vallee L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debre M, Fischer A, Stoppa-Lyonnet D, Investigators CN (2011) Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. J Allergy Clin Immunol 128(2):382–389. https://doi.org/10.1016/j.jaci.2011.03.052CrossRefPubMed

Suarez F, Mahlaoui N, Canioni D, Andriamanga C, Dubois d’Enghien C, Brousse N, Jais JP, Fischer A, Hermine O, Stoppa-Lyonnet D (2015) Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. J Clin Oncol: Off J Am Soc Clin Oncol 33(2):202–208. https://doi.org/10.1200/JCO.2014.56.5101CrossRef

Taylor AM, Metcalfe JA, Thick J, Mak YF (1996) Leukemia and lymphoma in ataxia telangiectasia. Blood 87(2):423–438CrossRef

Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NG, Taylor AM, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y (1995) A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268(5218):1749–1753CrossRef

Shiloh Y, Ziv Y (2013) The ATM protein kinase: regulating the cellular response to genotoxic stress, and more. Nat Rev Mol Cell Biol 14(4):197–210CrossRef

10.

Woods CG, Bundey SE, Taylor AM (1990) Unusual features in the inheritance of ataxia telangiectasia. Hum Genet 84(6):555–562. https://doi.org/10.1007/BF00210809CrossRefPubMed

11.

Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT (1986) The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Human Genet 39(5):573–583

12.

Pippard EC, Hall AJ, Barker DJ, Bridges BA (1988) Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain. Cancer Res 48(10):2929–2932PubMed

13.

Andrieu N, Cavaciuti E, Lauge A, Ossian K, Janin N, Hall J, Stoppa-Lyonnet D (2005) Ataxia-telangiectasia genes and breast cancer risk in a French family study. J Dairy Res. https://doi.org/10.1017/s0022029905001147CrossRefPubMed

14.

Renault AL, Mebirouk N, Cavaciuti E, Le Gal D, Lecarpentier J, d’Enghien CD, Lauge A, Dondon MG, Labbe M, Lesca G, Leroux D, Gladieff L, Adenis C, Faivre L, Gilbert-Dussardier B, Lortholary A, Fricker JP, Dahan K, Bay JO, Longy M, Buecher B, Janin N, Zattara H, Berthet P, Combes A, Coupier I, Co FATsc, Hall J, Stoppa-Lyonnet D, Andrieu N, Lesueur F (2017) Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families. Carcinogenesis 38(10):994–1003. https://doi.org/10.1093/carcin/bgx074CrossRefPubMedPubMedCentral

15.

Borresen AL, Andersen TI, Tretli S, Heiberg A, Moller P (1990) Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia. Genes, Chromosomes Cancer 2(4):339–340CrossRef

16.

Swift M, Chase CL, Morrell D (1990) Cancer predisposition of ataxia-telangiectasia heterozygotes. Cancer Genet Cytogenet 46(1):21–27CrossRef

17.

Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF (2005) Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Instit 97(11):813–822. https://doi.org/10.1093/jnci/dji141CrossRef

18.

Swift M, Reitnauer PJ, Morrell D, Chase CL (1987) Breast and other cancers in families with ataxia-telangiectasia. New England J Med 316(21):1289–1294. https://doi.org/10.1056/NEJM198705213162101CrossRef

19.

Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ (2007) ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science 316(5828):1160–1166. https://doi.org/10.1126/science.1140321CrossRefPubMed

20.

Bensimon A, Schmidt A, Ziv Y, Elkon R, Wang SY, Chen DJ, Aebersold R, Shiloh Y (2010) ATM-dependent and -independent dynamics of the nuclear phosphoproteome after DNA damage. Sci Signal 3(151):3. https://doi.org/10.1126/scisignal.2001034CrossRef

21.

Athma P, Rappaport R, Swift M (1996) Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 92(2):130–134CrossRef

22.

Inskip HM, Kinlen LJ, Taylor AM, Woods CG, Arlett CF (1999) Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia. Br J Cancer 79(7–8):1304–1307. https://doi.org/10.1038/sj.bjc.6690209CrossRefPubMedPubMedCentral

23.

Janin N, Andrieu N, Ossian K, Lauge A, Croquette MF, Griscelli C, Debre M, Bressac-de-Paillerets B, Aurias A, Stoppa-Lyonnet D (1999) Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families. Br J Cancer 80(7):1042–1045. https://doi.org/10.1038/sj.bjc.6690460CrossRefPubMedPubMedCentral

24.

Olsen JH, Hahnemann JM, Borresen-Dale AL, Brondum-Nielsen K, Hammarstrom L, Kleinerman R, Kaariainen H, Lonnqvist T, Sankila R, Seersholm N, Tretli S, Yuen J, Boice JD Jr, Tucker M (2001) Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. J Natl Cancer Instit 93(2):121–127CrossRef

25.

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

26.

d'Almeida AK, Cavaciuti E, Dondon MG, Lauge A, Janin N, Stoppa-Lyonnet D, Andrieu N (2005) Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship? Br J Cancer 93(6):730-732; author reply 732. https://doi.org/https://doi.org/10.1038/sj.bjc.6602786

27.

Balleine RL, Murali R, Bilous AM, Farshid G, Waring P, Provan P, Byth K, Thorne H, Kirk JA (2006) Histopathological features of breast cancer in carriers of ATM gene variants. Histopathology 49(5):523–532. https://doi.org/10.1111/j.1365-2559.2006.02538.xCrossRefPubMed

28.

Geoffroy-Perez B, Janin N, Ossian K, Lauge A, Croquette MF, Griscelli C, Debre M, Bressac-de-Paillerets B, Aurias A, Stoppa-Lyonnet D, Andrieu N (2001) Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer 93(2):288–293. https://doi.org/10.1002/ijc.1329CrossRefPubMed

29.

Zurück zum Zitat Breast Cancer Association C, Dorling L, Carvalho S, Allen J, Gonzalez-Neira A, Luccarini C, Wahlstrom C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Alvarez N, Herraez B, Fernandez V, Nunez-Torres R, Osorio A, Valcich J, Li M, Torngren T, Harrington PA, Baynes C, Conroy DM, Decker B, Fachal L, Mavaddat N, Ahearn T, Aittomaki K, Antonenkova NN, Arnold N, Arveux P, Ausems M, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bialkowska K, Blomqvist C, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Bonanni B, Borresen-Dale AL, Brauch H, Bremer M, Briceno I, Bruning T, Burwinkel B, Cameron DA, Camp NJ, Campbell A, Carracedo A, Castelao JE, Cessna MH, Chanock SJ, Christiansen H, Collee JM, Cordina-Duverger E, Cornelissen S, Czene K, Dork T, Ekici AB, Engel C, Eriksson M, Fasching PA, Figueroa J, Flyger H, Forsti A, Gabrielson M, Gago-Dominguez M, Georgoulias V, Gil F, Giles GG, Glendon G, Garcia EBG, Alnaes GIG, Guenel P, Hadjisavvas A, Haeberle L, Hahnen E, Hall P, Hamann U, Harkness EF, Hartikainen JM, Hartman M, He W, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Hollestelle A, Ho WK, Hooning MJ, Howell A, Humphreys K, Idris F, Jakubowska A, Jung A, Kapoor PM, Kerin MJ, Khusnutdinova E, Kim SW, Ko YD, Kosma VM, Kristensen VN, Kyriacou K, Lakeman IMM, Lee JW, Lee MH, Li J, Lindblom A, Lo WY, Loizidou MA, Lophatananon A, Lubinski J, MacInnis RJ, Madsen MJ, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Maurer T, Mavroudis D, McLean C, Meindl A, Mensenkamp AR, Michailidou K, Miller N, Mohd Taib NA, Muir K, Mulligan AM, Nevanlinna H, Newman WG, Nordestgaard BG, Ng PS, Oosterwijk JC, Park SK, Park-Simon TW, Perez JIA, Peterlongo P, Porteous DJ, Prajzendanc K, Prokofyeva D, Radice P, Rashid MU, Rhenius V, Rookus MA, Rudiger T, Saloustros E, Sawyer EJ, Schmutzler RK, Schneeweiss A, Schurmann P, Shah M, Sohn C, Southey MC, Surowy H, Suvanto M, Thanasitthichai S, Tomlinson I, Torres D, Truong T, Tzardi M, Valova Y, van Asperen CJ, Van Dam RM, van den Ouweland AMW, van der Kolk LE, van Veen EM, Wendt C, Williams JA, Yang XR, Yoon SY, Zamora MP, Evans DG, de la Hoya M, Simard J, Antoniou AC, Borg A, Andrulis IL, Chang-Claude J, Garcia-Closas M, Chenevix-Trench G, Milne RL, Pharoah PDP, Schmidt MK, Spurdle AB, Vreeswijk MPG, Benitez J, Dunning AM, Kvist A, Teo SH, Devilee P, Easton DF (2021) Breast cancer risk genes - association analysis in more than 113,000 women. New Engl J Med. https://doi.org/10.1056/NEJMoa1913948CrossRef Breast Cancer Association C, Dorling L, Carvalho S, Allen J, Gonzalez-Neira A, Luccarini C, Wahlstrom C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Alvarez N, Herraez B, Fernandez V, Nunez-Torres R, Osorio A, Valcich J, Li M, Torngren T, Harrington PA, Baynes C, Conroy DM, Decker B, Fachal L, Mavaddat N, Ahearn T, Aittomaki K, Antonenkova NN, Arnold N, Arveux P, Ausems M, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bialkowska K, Blomqvist C, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Bonanni B, Borresen-Dale AL, Brauch H, Bremer M, Briceno I, Bruning T, Burwinkel B, Cameron DA, Camp NJ, Campbell A, Carracedo A, Castelao JE, Cessna MH, Chanock SJ, Christiansen H, Collee JM, Cordina-Duverger E, Cornelissen S, Czene K, Dork T, Ekici AB, Engel C, Eriksson M, Fasching PA, Figueroa J, Flyger H, Forsti A, Gabrielson M, Gago-Dominguez M, Georgoulias V, Gil F, Giles GG, Glendon G, Garcia EBG, Alnaes GIG, Guenel P, Hadjisavvas A, Haeberle L, Hahnen E, Hall P, Hamann U, Harkness EF, Hartikainen JM, Hartman M, He W, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Hollestelle A, Ho WK, Hooning MJ, Howell A, Humphreys K, Idris F, Jakubowska A, Jung A, Kapoor PM, Kerin MJ, Khusnutdinova E, Kim SW, Ko YD, Kosma VM, Kristensen VN, Kyriacou K, Lakeman IMM, Lee JW, Lee MH, Li J, Lindblom A, Lo WY, Loizidou MA, Lophatananon A, Lubinski J, MacInnis RJ, Madsen MJ, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Maurer T, Mavroudis D, McLean C, Meindl A, Mensenkamp AR, Michailidou K, Miller N, Mohd Taib NA, Muir K, Mulligan AM, Nevanlinna H, Newman WG, Nordestgaard BG, Ng PS, Oosterwijk JC, Park SK, Park-Simon TW, Perez JIA, Peterlongo P, Porteous DJ, Prajzendanc K, Prokofyeva D, Radice P, Rashid MU, Rhenius V, Rookus MA, Rudiger T, Saloustros E, Sawyer EJ, Schmutzler RK, Schneeweiss A, Schurmann P, Shah M, Sohn C, Southey MC, Surowy H, Suvanto M, Thanasitthichai S, Tomlinson I, Torres D, Truong T, Tzardi M, Valova Y, van Asperen CJ, Van Dam RM, van den Ouweland AMW, van der Kolk LE, van Veen EM, Wendt C, Williams JA, Yang XR, Yoon SY, Zamora MP, Evans DG, de la Hoya M, Simard J, Antoniou AC, Borg A, Andrulis IL, Chang-Claude J, Garcia-Closas M, Chenevix-Trench G, Milne RL, Pharoah PDP, Schmidt MK, Spurdle AB, Vreeswijk MPG, Benitez J, Dunning AM, Kvist A, Teo SH, Devilee P, Easton DF (2021) Breast cancer risk genes - association analysis in more than 113,000 women. New Engl J Med. https://doi.org/10.1056/NEJMoa1913948CrossRef

30.

Hu C, Hart SN, Gnanaolivu R, Huang H, Lee KY, Na J, Gao C, Lilyquist J, Yadav S, Boddicker NJ, Samara R, Klebba J, Ambrosone CB, Anton-Culver H, Auer P, Bandera EV, Bernstein L, Bertrand KA, Burnside ES, Carter BD, Eliassen H, Gapstur SM, Gaudet M, Haiman C, Hodge JM, Hunter DJ, Jacobs EJ, John EM, Kooperberg C, Kurian AW, Le Marchand L, Lindstroem S, Lindstrom T, Ma H, Neuhausen S, Newcomb PA, O’Brien KM, Olson JE, Ong IM, Pal T, Palmer JR, Patel AV, Reid S, Rosenberg L, Sandler DP, Scott C, Tamimi R, Taylor JA, Trentham-Dietz A, Vachon CM, Weinberg C, Yao S, Ziogas A, Weitzel JN, Goldgar DE, Domchek SM, Nathanson KL, Kraft P, Polley EC, Couch FJ (2021) A population-based study of genes previously implicated in breast cancer. New Engl J Med. https://doi.org/10.1056/NEJMoa2005936CrossRefPubMed

31.

Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38(8):873–875CrossRef

32.

Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallee MP, Voegele C, Webb PM, Whiteman DC, Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G (2009) Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Human Genet 85(4):427–446CrossRef

33.

Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Nogues C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F (2019) 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 144(8):1962–1974. https://doi.org/10.1002/ijc.31921CrossRefPubMed

34.

Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, Goldgar DE, Evans DG, Chenevix-Trench G, Rahman N, Robson M, Domchek SM, Foulkes WD (2015) Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med 372(23):2243–2257. https://doi.org/10.1056/NEJMsr1501341CrossRefPubMedPubMedCentral

35.

Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallee MP, Voegele C, Webb PM, Whiteman DC, Australian Cancer S, Breast Cancer Family R, Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast C, Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G (2009) Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Human Genet 85(4):427–446. https://doi.org/10.1016/j.ajhg.2009.08.018CrossRef

36.

Castera L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, Brault B, Fouillet R, Goardon N, Letac O, Baert-Desurmont S, Tinat J, Bera O, Dugast C, Berthet P, Polycarpe F, Layet V, Hardouin A, Frebourg T, Vaur D (2014) Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur J Hum Genet 22(11):1305–1313. https://doi.org/10.1038/ejhg.2014.16CrossRefPubMedPubMedCentral

37.

Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, McGuire V, Ladabaum U, Kobayashi Y, Lincoln SE, Cargill M, Ford JM (2014) Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol: Off J Am Soc Clin Oncol 32(19):2001–2009. https://doi.org/10.1200/JCO.2013.53.6607CrossRef

38.

Schroeder C, Faust U, Sturm M, Hackmann K, Grundmann K, Harmuth F, Bosse K, Kehrer M, Benkert T, Klink B, Mackenroth L, Betcheva-Krajcir E, Wimberger P, Kast K, Heilig M, Nguyen HP, Riess O, Schrock E, Bauer P, Rump A (2015) HBOC multi-gene panel testing: comparison of two sequencing centers. Breast Cancer Res Treat 152(1):129–136. https://doi.org/10.1007/s10549-015-3429-9CrossRefPubMed

39.

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR (2015) Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 121(1):25–33. https://doi.org/10.1002/cncr.29010CrossRefPubMed

40.

Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, Hallberg E, Moore R, Thomas A, Lilyquist J, Feng B, McFarland R, Pesaran T, Huether R, LaDuca H, Chao EC, Goldgar DE, Dolinsky JS (2017) Associations between cancer predisposition testing panel genes and breast cancer. JAMA Oncol 3(9):1190–1196. https://doi.org/10.1001/jamaoncol.2017.0424CrossRefPubMedPubMedCentral

41.

Castera L, Harter V, Muller E, Krieger S, Goardon N, Ricou A, Rousselin A, Paimparay G, Legros A, Bruet O, Quesnelle C, Domin F, San C, Brault B, Fouillet R, Abadie C, Bera O, Berthet P, French Exome Project C, Frebourg T, Vaur D (2018) Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families. Genet Med 20(12):1677–1686. https://doi.org/10.1038/s41436-018-0005-9CrossRefPubMed

42.

Nielsen SM, Eccles DM, Romero IL, Al-Mulla F, Balmana J, Biancolella M, Bslok R, Caligo MA, Calvello M, Capone GL, Cavalli P, Chan TLC, Claes KBM, Cortesi L, Couch FJ, de la Hoya M, De Toffol S, Diez O, Domchek SM, Eeles R, Efremidis A, Fostira F, Goldgar D, Hadjisavvas A, Hansen TVO, Hirasawa A, Houdayer C, Kleiblova P, Krieger S, Lazaro C, Loizidou M, Manoukian S, Mensenkamp AR, Moghadasi S, Monteiro AN, Mori L, Morrow A, Naldi N, Nielsen HR, Olopade OI, Pachter NS, Palmero EI, Pedersen IS, Piane M, Puzzo M, Robson M, Rossing M, Sini MC, Solano A, Soukupova J, Tedaldi G, Teixeira M, Thomassen M, Tibiletti MG, Toland A, Torngren T, Vaccari E, Varesco L, Vega A, Wallis Y, Wappenschmidt B, Weitzel J, Spurdle AB, De Nicolo A, Gomez-Garcia EB (2018) Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes: an international survey by the evidence-based network for the interpretation of germline mutant alleles (ENIGMA) clinical working group. JCO Precis Oncol. https://doi.org/10.1200/PO.18.00091CrossRefPubMedPubMedCentral

43.

Moretta J, Berthet P, Bonadona V, Caron O, Cohen-Haguenauer O, Colas C, Corsini C, Cusin V, De Pauw A, Delnatte C, Dussart S, Jamain C, Longy M, Luporsi E, Maugard C, Nguyen TD, Pujol P, Vaur D, Andrieu N, Lasset C, Nogues C (2018) The french genetic and cancer consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition. Bull du Cancer 105(10):907–917. https://doi.org/10.1016/j.bulcan.2018.08.003CrossRef

44.

Daly MB, Pilarski R, Berry M, Buys SS, Farmer M, Friedman S, Garber JE, Kauff ND, Khan S, Klein C, Kohlmann W, Kurian A, Litton JK, Madlensky L, Merajver SD, Offit K, Pal T, Reiser G, Shannon KM, Swisher E, Vinayak S, Voian NC, Weitzel JN, Wick MJ, Wiesner GL, Dwyer M, Darlow S (2017) NCCN Guidelines insights: genetic/familial high-risk assessment: breast and ovarian, version 2.2017. J Natl Compr Canc Netw 15(1):9–20CrossRef

45.

Jerzak KJ, Mancuso T, Eisen A (2018) Ataxia-telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review. Curr Oncol 25(2):e176–e180. https://doi.org/10.3747/co.25.3707CrossRefPubMedPubMedCentral

46.

Stankovic T, Kidd AM, Sutcliffe A, McGuire GM, Robinson P, Weber P, Bedenham T, Bradwell AR, Easton DF, Lennox GG, Haites N, Byrd PJ, Taylor AM (1998) ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Human Genet. 62(2):334–345CrossRef

47.

Bernstein JL, Teraoka S, Southey MC, Jenkins MA, Andrulis IL, Knight JA, John EM, Lapinski R, Wolitzer AL, Whittemore AS, West D, Seminara D, Olson ER, Spurdle AB, Chenevix-Trench G, Giles GG, Hopper JL, Concannon P (2006) Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066–6T>G (IVS10-6T>G) from the breast cancer family registry. Human Mutat 27(11):1122–1128. https://doi.org/10.1002/humu.20415CrossRef

48.

Goldgar DE, Healey S, Dowty JG, Da Silva L, Chen X, Spurdle AB, Terry MB, Daly MJ, Buys SM, Southey MC, Andrulis I, John EM, Khanna KK, Hopper JL, Oefner PJ, Lakhani S, Chenevix-Trench G (2011) Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Res: BCR 13(4):R73. https://doi.org/10.1186/bcr2919CrossRefPubMedPubMedCentral

49.

van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA (2016) Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. Clin Genet 90(2):105–117. https://doi.org/10.1111/cge.12710CrossRefPubMed

50.

Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, Donn K, Cummings M, Nyholt D, Jenkins MA, Scott C, Pupo GM, Dork T, Bendix R, Kirk J, Tucker K, McCredie MR, Hopper JL, Sambrook J, Mann GJ, Khanna KK (2002) Dominant negative ATM mutations in breast cancer families. J Natl Cancer Instit 94(3):205–215CrossRef

51.

Waddell N, Jonnalagadda J, Marsh A, Grist S, Jenkins M, Hobson K, Taylor M, Lindeman GJ, Tavtigian SV, Suthers G, Goldgar D, Oefner PJ, Taylor D, Grimmond S, Khanna KK, Chenevix-Trench G (2006) Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. Genes, Chromosom Cancer 45(12):1169–1181. https://doi.org/10.1002/gcc.20381CrossRef

52.

Tavera-Tapia A, Perez-Cabornero L, Macias JA, Ceballos MI, Roncador G, de la Hoya M, Barroso A, Felipe-Ponce V, Serrano-Blanch R, Hinojo C, Miramar-Gallart MD, Urioste M, Caldes T, Santillan-Garzon S, Benitez J, Osorio A (2017) Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. Breast Cancer Res Treat 161(3):597–604. https://doi.org/10.1007/s10549-016-4058-7CrossRefPubMed

53.

Antoniou AC, Easton DF (2003) Polygenic inheritance of breast cancer: Implications for design of association studies. Genet Epidemiol 25(3):190–202. https://doi.org/10.1002/gepi.10261CrossRefPubMed

54.

Gallagher S, Hughes E, Wagner S, Tshiaba P, Rosenthal E, Roa BB, Kurian AW, Domchek SM, Garber J, Lancaster J, Weitzel JN, Gutin A, Lanchbury JS, Robson M (2020) Association of a polygenic risk score with breast cancer among women carriers of high- and moderate-risk breast cancer genes. JAMA Netw Open 3(7):e208501. https://doi.org/10.1001/jamanetworkopen.2020.8501CrossRefPubMedPubMedCentral

55.

Lee A, Mavaddat N, Wilcox AN, Cunningham AP, Carver T, Hartley S, Babb de Villiers C, Izquierdo A, Simard J, Schmidt MK, Walter FM, Chatterjee N, Garcia-Closas M, Tischkowitz M, Pharoah P, Easton DF, Antoniou AC (2019) BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors. Genet Med 21(8):1708–1718. https://doi.org/10.1038/s41436-018-0406-9CrossRefPubMedPubMedCentral

56.

Swift M, Morrell D, Massey RB, Chase CL (1991) Incidence of cancer in 161 families affected by ataxia-telangiectasia. New Engl J Med 325(26):1831–1836. https://doi.org/10.1056/NEJM199112263252602CrossRefPubMed

57.

Roberts NJ, Jiao Y, Yu J, Kopelovich L, Petersen GM, Bondy ML, Gallinger S, Schwartz AG, Syngal S, Cote ML, Axilbund J, Schulick R, Ali SZ, Eshleman JR, Velculescu VE, Goggins M, Vogelstein B, Papadopoulos N, Hruban RH, Kinzler KW, Klein AP (2012) ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov 2(1):41–46. https://doi.org/10.1158/2159-8290.CD-11-0194CrossRefPubMed

58.

Roberts NJ, Norris AL, Petersen GM, Bondy ML, Brand R, Gallinger S, Kurtz RC, Olson SH, Rustgi AK, Schwartz AG, Stoffel E, Syngal S, Zogopoulos G, Ali SZ, Axilbund J, Chaffee KG, Chen YC, Cote ML, Childs EJ, Douville C, Goes FS, Herman JM, Iacobuzio-Donahue C, Kramer M, Makohon-Moore A, McCombie RW, McMahon KW, Niknafs N, Parla J, Pirooznia M, Potash JB, Rhim AD, Smith AL, Wang Y, Wolfgang CL, Wood LD, Zandi PP, Goggins M, Karchin R, Eshleman JR, Papadopoulos N, Kinzler KW, Vogelstein B, Hruban RH, Klein AP (2016) Whole genome sequencing defines the genetic heterogeneity of familial pancreatic cancer. Cancer Discov 6(2):166–175. https://doi.org/10.1158/2159-8290.CD-15-0402CrossRefPubMed

59.

Chaffee KG, Oberg AL, McWilliams RR, Majithia N, Allen BA, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Petersen GM (2018) Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history. Genet Med 20(1):119–127. https://doi.org/10.1038/gim.2017.85CrossRefPubMed

60.

Shindo K, Yu J, Suenaga M, Fesharakizadeh S, Cho C, Macgregor-Das A, Siddiqui A, Witmer PD, Tamura K, Song TJ, Navarro Almario JA, Brant A, Borges M, Ford M, Barkley T, He J, Weiss MJ, Wolfgang CL, Roberts NJ, Hruban RH, Klein AP, Goggins M (2017) Deleterious germline mutations in patients with apparently sporadic pancreatic adenocarcinoma. J Clin Oncol: Off J Am Soc Clin Oncol 35(30):3382–3390. https://doi.org/10.1200/JCO.2017.72.3502CrossRef

61.

Hu C, Hart SN, Polley EC, Gnanaolivu R, Shimelis H, Lee KY, Lilyquist J, Na J, Moore R, Antwi SO, Bamlet WR, Chaffee KG, DiCarlo J, Wu Z, Samara R, Kasi PM, McWilliams RR, Petersen GM, Couch FJ (2018) Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. JAMA 319(23):2401–2409. https://doi.org/10.1001/jama.2018.6228CrossRefPubMedPubMedCentral

62.

Singhi AD, George B, Greenbowe JR, Chung J, Suh J, Maitra A, Klempner SJ, Hendifar A, Milind JM, Golan T, Brand RE, Zureikat AH, Roy S, Schrock AB, Miller VA, Ross JS, Ali SM, Bahary N (2019) Real-time targeted genome profile analysis of pancreatic ductal adenocarcinomas identifies genetic alterations that might be targeted with existing drugs or used as biomarkers. Gastroenterology 156(8):2242–2253. https://doi.org/10.1053/j.gastro.2019.02.037CrossRefPubMed

63.

Skaro M, Nanda N, Gauthier C, Felsenstein M, Jiang Z, Qiu M, Shindo K, Yu J, Hutchings D, Javed AA, Beckman R, He J, Wolfgang CL, Thompson E, Hruban RH, Klein AP, Goggins M, Wood LD, Roberts NJ (2019) Prevalence of germline mutations associated with cancer risk in patients with intraductal papillary mucinous neoplasms. Gastroenterology 156(6):1905–1913. https://doi.org/10.1053/j.gastro.2019.01.254CrossRefPubMed

64.

Nguyen-Dumont T, MacInnis RJ, Steen JA, Theys D, Tsimiklis H, Hammet F, Mahmoodi M, Pope BJ, Park DJ, Mahmood K, Severi G, Bolton D, Milne RL, Giles GG, Southey MC (2020) Rare germline genetic variants and risk of aggressive prostate cancer. Int J Cancer 147(8):2142–2149. https://doi.org/10.1002/ijc.33024CrossRefPubMed

65.

Karlsson Q, Brook MN, Dadaev T, Wakerell S, Saunders EJ, Muir K, Neal DE, Giles GG, MacInnis RJ, Thibodeau SN, McDonnell SK, Cannon-Albright L, Teixeira MR, Paulo P, Cardoso M, Huff C, Li D, Yao Y, Scheet P, Permuth JB, Stanford JL, Dai JY, Ostrander EA, Cussenot O, Cancel-Tassin G, Hoegel J, Herkommer K, Schleutker J, Tammela TLJ, Rathinakannan V, Sipeky C, Wiklund F, Gronberg H, Aly M, Isaacs WB, Dickinson JL, FitzGerald LM, Chua MLK, Nguyen-Dumont T, Consortium P, Schaid DJ, Southey MC, Eeles RA, Kote-Jarai Z (2021) Rare germline variants in ATM predispose to prostate cancer: a PRACTICAL consortium study. Eur Urol Oncol. https://doi.org/10.1016/j.euo.2020.12.001CrossRefPubMedPubMedCentral

66.

Giri VN, Knudsen KE, Kelly WK, Cheng HH, Cooney KA, Cookson MS, Dahut W, Weissman S, Soule HR, Petrylak DP, Dicker AP, AlDubayan SH, Toland AE, Pritchard CC, Pettaway CA, Daly MB, Mohler JL, Parsons JK, Carroll PR, Pilarski R, Blanco A, Woodson A, Rahm A, Taplin ME, Polascik TJ, Helfand BT, Hyatt C, Morgans AK, Feng F, Mullane M, Powers J, Concepcion R, Lin DW, Wender R, Mark JR, Costello A, Burnett AL, Sartor O, Isaacs WB, Xu J, Weitzel J, Andriole GL, Beltran H, Briganti A, Byrne L, Calvaresi A, Chandrasekar T, Chen DYT, Den RB, Dobi A, Crawford ED, Eastham J, Eggener S, Freedman ML, Garnick M, Gomella PT, Handley N, Hurwitz MD, Izes J, Karnes RJ, Lallas C, Languino L, Loeb S, Lopez AM, Loughlin KR, Lu-Yao G, Malkowicz SB, Mann M, Mille P, Miner MM, Morgan T, Moreno J, Mucci L, Myers RE, Nielsen SM, O’Neil B, Pinover W, Pinto P, Poage W, Raj GV, Rebbeck TR, Ryan C, Sandler H, Schiewer M, Scott EMD, Szymaniak B, Tester W, Trabulsi EJ, Vapiwala N, Yu EY, Zeigler-Johnson C, Gomella LG (2020) Implementation of germline testing for prostate cancer: philadelphia prostate cancer consensus conference 2019. J Clin Oncol: Off J Am Soc Clin Oncol 38(24):2798–2811. https://doi.org/10.1200/JCO.20.00046CrossRef

67.

de Bono J, Mateo J, Fizazi K, Saad F, Shore N, Sandhu S, Chi KN, Sartor O, Agarwal N, Olmos D, Thiery-Vuillemin A, Twardowski P, Mehra N, Goessl C, Kang J, Burgents J, Wu W, Kohlmann A, Adelman CA, Hussain M (2020) Olaparib for metastatic castration-resistant prostate cancer. New Engl J Med 382(22):2091–2102. https://doi.org/10.1056/NEJMoa1911440CrossRefPubMed

68.

Hussain M, Mateo J, Fizazi K, Saad F, Shore N, Sandhu S, Chi KN, Sartor O, Agarwal N, Olmos D, Thiery-Vuillemin A, Twardowski P, Roubaud G, Ozguroglu M, Kang J, Burgents J, Gresty C, Corcoran C, Adelman CA, de Bono J, Investigators PRT (2020) Survival with olaparib in metastatic castration-resistant prostate cancer. New Engl J Med. https://doi.org/10.1056/NEJMoa2022485CrossRefPubMed

69.

Landi MT, Bishop DT, MacGregor S, Machiela MJ, Stratigos AJ, Ghiorzo P, Brossard M, Calista D, Choi J, Fargnoli MC, Zhang T, Rodolfo M, Trower AJ, Menin C, Martinez J, Hadjisavvas A, Song L, Stefanaki I, Scolyer R, Yang R, Goldstein AM, Potrony M, Kypreou KP, Pastorino L, Queirolo P, Pellegrini C, Cattaneo L, Zawistowski M, Gimenez-Xavier P, Rodriguez A, Elefanti L, Manoukian S, Rivoltini L, Smith BH, Loizidou MA, Del Regno L, Massi D, Mandala M, Khosrotehrani K, Akslen LA, Amos CI, Andresen PA, Avril MF, Azizi E, Soyer HP, Bataille V, Dalmasso B, Bowdler LM, Burdon KP, Chen WV, Codd V, Craig JE, Debniak T, Falchi M, Fang S, Friedman E, Simi S, Galan P, Garcia-Casado Z, Gillanders EM, Gordon S, Green A, Gruis NA, Hansson J, Harland M, Harris J, Helsing P, Henders A, Hocevar M, Hoiom V, Hunter D, Ingvar C, Kumar R, Lang J, Lathrop GM, Lee JE, Li X, Lubinski J, Mackie RM, Malt M, Malvehy J, McAloney K, Mohamdi H, Molven A, Moses EK, Neale RE, Novakovic S, Nyholt DR, Olsson H, Orr N, Fritsche LG, Puig-Butille JA, Qureshi AA, Radford-Smith GL, Randerson-Moor J, Requena C, Rowe C, Samani NJ, Sanna M, Schadendorf D, Schulze HJ, Simms LA, Smithers M, Song F, Swerdlow AJ, van der Stoep N, Kukutsch NA, Visconti A, Wallace L, Ward SV, Wheeler L, Sturm RA, Hutchinson A, Jones K, Malasky M, Vogt A, Zhou W, Pooley KA, Elder DE, Han J, Hicks B, Hayward NK, Kanetsky PA, Brummett C, Montgomery GW, Olsen CM, Hayward C, Dunning AM, Martin NG, Evangelou E, Mann GJ, Long G, Pharoah PDP, Easton DF, Barrett JH, Cust AE, Abecasis G, Duffy DL, Whiteman DC, Gogas H, De Nicolo A, Tucker MA, Newton-Bishop JA, Geno MELC, Group SDHS, Investigators IBD, Essen-Heidelberg I, Investigators A, MelaNostrum C, Peris K, Chanock SJ, Demenais F, Brown KM, Puig S, Nagore E, Shi J, Iles MM, Law MH (2020) Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. Nat Gen 52(5):494–504. https://doi.org/10.1038/s41588-020-0611-8CrossRef

70.

Goldstein AM, Xiao Y, Sampson J, Zhu B, Rotunno M, Bennett H, Wen Y, Jones K, Vogt A, Burdette L, Luo W, Zhu B, Yeager M, Hicks B, Han J, De Vivo I, Koutros S, Andreotti G, Beane-Freeman L, Purdue M, Freedman ND, Chanock SJ, Tucker MA, Yang XR (2017) Rare germline variants in known melanoma susceptibility genes in familial melanoma. Human Mol Genet 26(24):4886–4895. https://doi.org/10.1093/hmg/ddx368CrossRef

71.

Read J, Wadt KA, Hayward NK (2016) Melanoma genetics. J Med Genet 53(1):1–14. https://doi.org/10.1136/jmedgenet-2015-103150CrossRefPubMed

72.

Dalmasso B, Ghiorzo P (2020) Evolution of approaches to identify melanoma missing heritability. Exp Rev Mol Diagn 20(5):523–531. https://doi.org/10.1080/14737159.2020.1738221CrossRef

73.

Dombernowsky SL, Weischer M, Allin KH, Bojesen SE, Tybjaerg-Hansen A, Nordestgaard BG (2008) Risk of cancer by ATM missense mutations in the general population. J Clin Oncol: Off J Am Soc Clin Oncol 26(18):3057–3062. https://doi.org/10.1200/JCO.2007.14.6613CrossRef

74.

Barrett JH, Iles MM, Harland M, Taylor JC, Aitken JF, Andresen PA, Akslen LA, Armstrong BK, Avril MF, Azizi E, Bakker B, Bergman W, Bianchi-Scarra G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Corda E, Cust AE, Debniak T, Duffy D, Dunning AM, Easton DF, Friedman E, Galan P, Ghiorzo P, Giles GG, Hansson J, Hocevar M, Hoiom V, Hopper JL, Ingvar C, Janssen B, Jenkins MA, Jonsson G, Kefford RF, Landi G, Landi MT, Lang J, Lubinski J, Mackie R, Malvehy J, Martin NG, Molven A, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Pastorino L, Puig S, Puig-Butille JA, Randerson-Moor J, Snowden H, Tuominen R, Van Belle P, van der Stoep N, Whiteman DC, Zelenika D, Han J, Fang S, Lee JE, Wei Q, Lathrop GM, Gillanders EM, Brown KM, Goldstein AM, Kanetsky PA, Mann GJ, Macgregor S, Elder DE, Amos CI, Hayward NK, Gruis NA, Demenais F, Bishop JA, Bishop DT, Geno MELC (2011) Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet 43(11):1108–1113. https://doi.org/10.1038/ng.959CrossRefPubMedPubMedCentral

75.

Law MH, Bishop DT, Lee JE, Brossard M, Martin NG, Moses EK, Song F, Barrett JH, Kumar R, Easton DF, Pharoah PDP, Swerdlow AJ, Kypreou KP, Taylor JC, Harland M, Randerson-Moor J, Akslen LA, Andresen PA, Avril MF, Azizi E, Scarra GB, Brown KM, Debniak T, Duffy DL, Elder DE, Fang S, Friedman E, Galan P, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Helsing P, Hocevar M, Hoiom V, Ingvar C, Kanetsky PA, Chen WV, Geno MELC, Essen-Heidelberg I, Group SDHS, Q M, Investigators, Investigators A, Group AMS, Landi MT, Lang J, Lathrop GM, Lubinski J, Mackie RM, Mann GJ, Molven A, Montgomery GW, Novakovic S, Olsson H, Puig S, Puig-Butille JA, Qureshi AA, Radford-Smith GL, van der Stoep N, van Doorn R, Whiteman DC, Craig JE, Schadendorf D, Simms LA, Burdon KP, Nyholt DR, Pooley KA, Orr N, Stratigos AJ, Cust AE, Ward SV, Hayward NK, Han J, Schulze HJ, Dunning AM, Bishop JAN, Demenais F, Amos CI, MacGregor S, Iles MM (2015) Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nat Genet 47(9):987–995. https://doi.org/10.1038/ng.3373CrossRefPubMedPubMedCentral

76.

Pastorino L, Andreotti V, Dalmasso B, Vanni I, Ciccarese G, Mandala M, Spadola G, Pizzichetta MA, Ponti G, Tibiletti MG, Sala E, Genuardi M, Chiurazzi P, Maccanti G, Manoukian S, Sestini S, Danesi R, Zampiga V, La Starza R, Stanganelli I, Ballestrero A, Mastracci L, Grillo F, Sciallero S, Cecchi F, Tanda ET, Spagnolo F, Queirolo P, Italian Melanoma I, Goldstein AM, Bruno W, Ghiorzo P (2020) Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1. Cancers (Basel). https://doi.org/10.3390/cancers12041007CrossRef

77.

Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE (2019) Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia. Ann Neurol 85(2):170–180. https://doi.org/10.1002/ana.25394CrossRefPubMedPubMedCentral

78.

Reiman A, Srinivasan V, Barone G, Last JI, Wootton LL, Davies EG, Verhagen MM, Willemsen MA, Weemaes CM, Byrd PJ, Izatt L, Easton DF, Thompson DJ, Taylor AM (2011) Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. Br J Cancer 105(4):586–591. https://doi.org/10.1038/bjc.2011.266CrossRefPubMedPubMedCentral

79.

Feliubadalo L, Moles-Fernandez A, Santamarina-Pena M, Sanchez AT, Lopez-Novo A, Porras LM, Blanco A, Capella G, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, de la Cruz X, Diez O, Ruiz-Ponte C, Gutierrez-Enriquez S, Vega A, Lazaro C (2020) A collaborative effort to define classification criteria for ATM variants in hereditary cancer patients. Clin Chem. https://doi.org/10.1093/clinchem/hvaa250CrossRef

80.

Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE (2007) A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Human Genet 81(5):873–883. https://doi.org/10.1086/521032CrossRef

81.

Li H, LaDuca H, Pesaran T, Chao EC, Dolinsky JS, Parsons M, Spurdle AB, Polley EC, Shimelis H, Hart SN, Hu C, Couch FJ, Goldgar DE (2020) Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort. Genet Med 22(4):701–708. https://doi.org/10.1038/s41436-019-0729-1CrossRefPubMed

82.

Feng BJ (2017) PERCH: a unified framework for disease gene prioritization. Human Mutat 38(3):243–251. https://doi.org/10.1002/humu.23158CrossRef

83.

Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE, Enigma (2012) ENIGMA–evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Human Mutat 33(1):2–7. https://doi.org/10.1002/humu.21628CrossRef

84.

Bernstein JL, Group WSC, Concannon P (2017) ATM, radiation, and the risk of second primary breast cancer. Int J Radiat Biol 93(10):1121–1127. https://doi.org/10.1080/09553002.2017.1344363CrossRefPubMedPubMedCentral

85.

Reiner AS, Robson ME, Mellemkjaer L, Tischkowitz M, John EM, Lynch CF, Brooks JD, Boice JD, Knight JA, Teraoka SN, Liang X, Woods M, Shen R, Shore RE, Stram DO, Thomas DC, Malone KE, Bernstein L, Riaz N, Woodward W, Powell S, Goldgar D, Concannon P, Group WSC, Bernstein JL (2020) Radiation treatment, ATM, BRCA1/2, and CHEK2*1100delC pathogenic variants, and risk of contralateral breast cancer. J Natl Cancer Instit. https://doi.org/10.1093/jnci/djaa031CrossRef

86.

Andreassen CN, Rosenstein BS, Kerns SL, Ostrer H, De Ruysscher D, Cesaretti JA, Barnett GC, Dunning AM, Dorling L, West CML, Burnet NG, Elliott R, Coles C, Hall E, Fachal L, Vega A, Gomez-Caamano A, Talbot CJ, Symonds RP, De Ruyck K, Thierens H, Ost P, Chang-Claude J, Seibold P, Popanda O, Overgaard M, Dearnaley D, Sydes MR, Azria D, Koch CA, Parliament M, Blackshaw M, Sia M, Fuentes-Raspall MJ, Ramon YCT, Barnadas A, Vesprini D, Gutierrez-Enriquez S, Molla M, Diez O, Yarnold JR, Overgaard J, Bentzen SM, International Radiogenomics C, Alsner J (2016) Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients. Radiother Oncol 121(3):431–439. https://doi.org/10.1016/j.radonc.2016.06.017CrossRefPubMedPubMedCentral

87.

Renault AL, Mebirouk N, Fuhrmann L, Bataillon G, Cavaciuti E, Le Gal D, Girard E, Popova T, La Rosa P, Beauvallet J, Eon-Marchais S, Dondon MG, d’Enghien CD, Lauge A, Chemlali W, Raynal V, Labbe M, Bieche I, Baulande S, Bay JO, Berthet P, Caron O, Buecher B, Faivre L, Fresnay M, Gauthier-Villars M, Gesta P, Janin N, Lejeune S, Maugard C, Moutton S, Venat-Bouvet L, Zattara H, Fricker JP, Gladieff L, Coupier I, Co FA, Genesis, kConFab, Chenevix-Trench G, Hall J, Vincent-Salomon A, Stoppa-Lyonnet D, Andrieu N, Lesueur F (2018) Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers. Breast Cancer Res: BCR 20(1):28. https://doi.org/10.1186/s13058-018-0951-9CrossRefPubMedPubMedCentral

88.

Weigelt B, Bi R, Kumar R, Blecua P, Mandelker DL, Geyer FC, Pareja F, James PA, kConFab I, Couch FJ, Eccles DM, Blows F, Pharoah P, Li A, Selenica P, Lim RS, Jayakumaran G, Waddell N, Shen R, Norton L, Wen WY, Powell SN, Riaz N, Robson ME, Reis-Filho JS, Chenevix-Trench G (2018) The landscape of somatic genetic alterations in breast cancers from ATM germline mutation carriers. J Natl Cancer Inst 110(9):1030–1034. https://doi.org/10.1093/jnci/djy028CrossRefPubMedPubMedCentral

89.

Mateo J, Carreira S, Sandhu S, Miranda S, Mossop H, Perez-Lopez R, Nava Rodrigues D, Robinson D, Omlin A, Tunariu N, Boysen G, Porta N, Flohr P, Gillman A, Figueiredo I, Paulding C, Seed G, Jain S, Ralph C, Protheroe A, Hussain S, Jones R, Elliott T, McGovern U, Bianchini D, Goodall J, Zafeiriou Z, Williamson CT, Ferraldeschi R, Riisnaes R, Ebbs B, Fowler G, Roda D, Yuan W, Wu YM, Cao X, Brough R, Pemberton H, A’Hern R, Swain A, Kunju LP, Eeles R, Attard G, Lord CJ, Ashworth A, Rubin MA, Knudsen KE, Feng FY, Chinnaiyan AM, Hall E, de Bono JS (2015) DNA-repair defects and olaparib in metastatic prostate cancer. New Engl J Med 373(18):1697–1708. https://doi.org/10.1056/NEJMoa1506859CrossRefPubMed

90.

Biankin AV, Waddell N, Kassahn KS, Gingras MC, Muthuswamy LB, Johns AL, Miller DK, Wilson PJ, Patch AM, Wu J, Chang DK, Cowley MJ, Gardiner BB, Song S, Harliwong I, Idrisoglu S, Nourse C, Nourbakhsh E, Manning S, Wani S, Gongora M, Pajic M, Scarlett CJ, Gill AJ, Pinho AV, Rooman I, Anderson M, Holmes O, Leonard C, Taylor D, Wood S, Xu Q, Nones K, Fink JL, Christ A, Bruxner T, Cloonan N, Kolle G, Newell F, Pinese M, Mead RS, Humphris JL, Kaplan W, Jones MD, Colvin EK, Nagrial AM, Humphrey ES, Chou A, Chin VT, Chantrill LA, Mawson A, Samra JS, Kench JG, Lovell JA, Daly RJ, Merrett ND, Toon C, Epari K, Nguyen NQ, Barbour A, Zeps N, Australian Pancreatic Cancer Genome I, Kakkar N, Zhao F, Wu YQ, Wang M, Muzny DM, Fisher WE, Brunicardi FC, Hodges SE, Reid JG, Drummond J, Chang K, Han Y, Lewis LR, Dinh H, Buhay CJ, Beck T, Timms L, Sam M, Begley K, Brown A, Pai D, Panchal A, Buchner N, De Borja R, Denroche RE, Yung CK, Serra S, Onetto N, Mukhopadhyay D, Tsao MS, Shaw PA, Petersen GM, Gallinger S, Hruban RH, Maitra A, Iacobuzio-Donahue CA, Schulick RD, Wolfgang CL, Morgan RA, Lawlor RT, Capelli P, Corbo V, Scardoni M, Tortora G, Tempero MA, Mann KM, Jenkins NA, Perez-Mancera PA, Adams DJ, Largaespada DA, Wessels LF, Rust AG, Stein LD, Tuveson DA, Copeland NG, Musgrove EA, Scarpa A, Eshleman JR, Hudson TJ, Sutherland RL, Wheeler DA, Pearson JV, McPherson JD, Gibbs RA, Grimmond SM (2012) Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature 491(7424):399–405. https://doi.org/10.1038/nature11547CrossRefPubMedPubMedCentral

91.

Waddell N, Pajic M, Patch AM, Chang DK, Kassahn KS, Bailey P, Johns AL, Miller D, Nones K, Quek K, Quinn MC, Robertson AJ, Fadlullah MZ, Bruxner TJ, Christ AN, Harliwong I, Idrisoglu S, Manning S, Nourse C, Nourbakhsh E, Wani S, Wilson PJ, Markham E, Cloonan N, Anderson MJ, Fink JL, Holmes O, Kazakoff SH, Leonard C, Newell F, Poudel B, Song S, Taylor D, Waddell N, Wood S, Xu Q, Wu J, Pinese M, Cowley MJ, Lee HC, Jones MD, Nagrial AM, Humphris J, Chantrill LA, Chin V, Steinmann AM, Mawson A, Humphrey ES, Colvin EK, Chou A, Scarlett CJ, Pinho AV, Giry-Laterriere M, Rooman I, Samra JS, Kench JG, Pettitt JA, Merrett ND, Toon C, Epari K, Nguyen NQ, Barbour A, Zeps N, Jamieson NB, Graham JS, Niclou SP, Bjerkvig R, Grutzmann R, Aust D, Hruban RH, Maitra A, Iacobuzio-Donahue CA, Wolfgang CL, Morgan RA, Lawlor RT, Corbo V, Bassi C, Falconi M, Zamboni G, Tortora G, Tempero MA, Australian Pancreatic Cancer Genome I, Gill AJ, Eshleman JR, Pilarsky C, Scarpa A, Musgrove EA, Pearson JV, Biankin AV, Grimmond SM (2015) Whole genomes redefine the mutational landscape of pancreatic cancer. Nature 518(7540):495–501. https://doi.org/10.1038/nature14169CrossRefPubMedPubMedCentral

92.

Witkiewicz AK, McMillan EA, Balaji U, Baek G, Lin WC, Mansour J, Mollaee M, Wagner KU, Koduru P, Yopp A, Choti MA, Yeo CJ, McCue P, White MA, Knudsen ES (2015) Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets. Nat Commun 6:6744. https://doi.org/10.1038/ncomms7744CrossRefPubMed

93.

Hutchings D, Jiang Z, Skaro M, Weiss MJ, Wolfgang CL, Makary MA, He J, Cameron JL, Zheng L, Klimstra DS, Brand RE, Singhi AD, Goggins M, Klein AP, Roberts NJ, Hruban RH (2019) Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants. Mod Pathol 32(12):1806–1813. https://doi.org/10.1038/s41379-019-0317-6CrossRefPubMedPubMedCentral

94.

Antoniou AC, Goldgar DE, Andrieu N, Chang-Claude J, Brohet R, Rookus MA, Easton DF (2005) A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes. Genet Epidemiol 29(1):1–11. https://doi.org/10.1002/gepi.20074CrossRefPubMed

95.

Hauke J, Horvath J, Gross E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmuller J, Volk AE, Thiele H, Hubbel V, Nurnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler RK, Hahnen E (2018) Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer Med 7(4):1349–1358. https://doi.org/10.1002/cam4.1376CrossRefPubMedPubMedCentral

Titel: First international workshop of the ATM and cancer risk group (4-5 December 2019)
verfasst von: Fabienne Lesueur
Douglas F. Easton
Anne-Laure Renault
Sean V. Tavtigian
Jonine L. Bernstein
Zsofia Kote-Jarai
Rosalind A. Eeles
Dijana Plaseska-Karanfia
Lidia Feliubadaló
Banu Arun
Natalie Herold
Beatrix Versmold
Rita Katharina Schmutzler
Tú Nguyen-Dumont
Melissa C. Southey
Leila Dorling
Alison M. Dunning
Paola Ghiorzo
Bruna Samia Dalmasso
Eve Cavaciuti
Dorothée Le Gal
Nicholas J. Roberts
Mev Dominguez-Valentin
Matti Rookus
Alexander M. R. Taylor
Alisa M. Goldstein
David E. Goldgar
Dominique Stoppa-Lyonnet
Nadine Andrieu
Spanish ATM working group
GC-HBOC
CARRIERS and Ambry Groups
Publikationsdatum: 14.06.2021
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 2/2022
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-021-00248-y

Neu im Fachgebiet Onkologie

24.04.2024 | DGIM 2024 | Nachrichten

Springer Medizin

First international workshop of the ATM and cancer risk group (4-5 December 2019)

Abstract

Neu im Fachgebiet Onkologie

Bei Senioren mit Prostatakarzinom auf Anämie achten!

ICI-Therapie in der Schwangerschaft wird gut toleriert

Krebspatienten impfen: Was? Wen? Und wann nicht?

Müde im Alter? Auch an die Nebenniere denken

Update Onkologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 2/2022

Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for lynch syndrome risk assessment in a diverse population

Questioning the validity of clinically available breast cancer polygenic risk scores: comparison of two labs reveals discrepancies

“I wish that there was more info”: characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants

The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management

Extended gene panel testing in lobular breast cancer

Pilot study of an online training program to increase genetic literacy and communication skills in oncology healthcare professionals discussing BRCA1/2 genetic testing with breast and ovarian cancer patients

Neu im Fachgebiet Onkologie

Bei Senioren mit Prostatakarzinom auf Anämie achten!

ICI-Therapie in der Schwangerschaft wird gut toleriert

Krebspatienten impfen: Was? Wen? Und wann nicht?

Müde im Alter? Auch an die Nebenniere denken

Update Onkologie