{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T11:18:49Z","timestamp":1761995929152,"version":"build-2065373602"},"reference-count":84,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2017,4,1]],"date-time":"2017-04-01T00:00:00Z","timestamp":1491004800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,4,1]],"date-time":"2017-04-01T00:00:00Z","timestamp":1491004800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Seminars in Hematology"],"published-print":{"date-parts":[[2017,4]]},"DOI":"10.1053\/j.seminhematol.2017.04.003","type":"journal-article","created":{"date-parts":[[2017,4,7]],"date-time":"2017-04-07T08:00:20Z","timestamp":1491552020000},"page":"115-122","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Cancer predisposition syndromes associated with myeloid malignancy"],"prefix":"10.1053","volume":"54","author":[{"given":"Emily","family":"Quinn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim E.","family":"Nichols","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4985","key":"10.1053\/j.seminhematol.2017.04.003_bib1","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1126\/science.1978757","article-title":"Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms","volume":"250","author":"Malkin","year":"1990","journal-title":"Science"},{"issue":"9363","key":"10.1053\/j.seminhematol.2017.04.003_bib2","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1016\/S0140-6736(03)12856-5","article-title":"Prediction of pathogenic mutations in patients with early-onset breast cancer by family history","volume":"361","author":"Lalloo","year":"2003","journal-title":"Lancet"},{"issue":"16","key":"10.1053\/j.seminhematol.2017.04.003_bib3","doi-asserted-by":"crossref","first-page":"9330","DOI":"10.1073\/pnas.161479898","article-title":"An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma","volume":"98","author":"Ribeiro","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"10","key":"10.1053\/j.seminhematol.2017.04.003_bib4","doi-asserted-by":"crossref","first-page":"4970","DOI":"10.1210\/jcem.86.10.7957","article-title":"An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors","volume":"86","author":"Latronico","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"10.1053\/j.seminhematol.2017.04.003_bib5","doi-asserted-by":"crossref","first-page":"1250","DOI":"10.1200\/JCO.2008.16.6959","article-title":"Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations","volume":"27","author":"Gonzalez","year":"2009","journal-title":"J Clin Oncol"},{"issue":"4901","key":"10.1053\/j.seminhematol.2017.04.003_bib6","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1126\/science.2649981","article-title":"Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas","volume":"244","author":"Baker","year":"1989","journal-title":"Science"},{"issue":"7","key":"10.1053\/j.seminhematol.2017.04.003_bib7","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1016\/0092-8674(89)90045-7","article-title":"The p53 proto-oncogene can act as a suppressor of transformation","volume":"57","author":"Finlay","year":"1989","journal-title":"Cell"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib8","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.cell.2009.04.037","article-title":"Blinded by the light: the growing complexity of p53","volume":"137","author":"Vousden","year":"2009","journal-title":"Cell"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib9","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.tig.2011.12.002","article-title":"The p53 network: cellular and systemic DNA damage responses in aging and cancer","volume":"28","author":"Reinhardt","year":"2012","journal-title":"Trends Genet"},{"issue":"6250","key":"10.1053\/j.seminhematol.2017.04.003_bib10","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1038\/342705a0","article-title":"Mutations in the p53 gene occur in diverse human tumour types","volume":"342","author":"Nigro","year":"1989","journal-title":"Nature"},{"issue":"6381","key":"10.1053\/j.seminhematol.2017.04.003_bib11","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/358015a0","article-title":"Cancer. p53, guardian of the genome","volume":"358","author":"Lane","year":"1992","journal-title":"Nature"},{"issue":"6","key":"10.1053\/j.seminhematol.2017.04.003_bib12","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1002\/humu.20495","article-title":"Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database","volume":"28","author":"Petitjean","year":"2007","journal-title":"Hum Mutat"},{"issue":"1","key":"10.1053\/j.seminhematol.2017.04.003_bib13","first-page":"12","article-title":"Tumor suppressor p53: analysis of wild-type and mutant p53 complexes","volume":"11","author":"Milner","year":"1991","journal-title":"Mol Cell Biol"},{"issue":"2","key":"10.1053\/j.seminhematol.2017.04.003_bib14","doi-asserted-by":"crossref","first-page":"a001107","DOI":"10.1101\/cshperspect.a001107","article-title":"Mutant p53 gain-of-function in cancer","volume":"2","author":"Oren","year":"2010","journal-title":"Cold Spring Harbor Perspect Biol"},{"year":"1993","series-title":"Li-Fraumeni syndrome","author":"Schneider","key":"10.1053\/j.seminhematol.2017.04.003_bib15"},{"issue":"18","key":"10.1053\/j.seminhematol.2017.04.003_bib16","first-page":"5358","article-title":"A cancer family syndrome in twenty-four kindreds","volume":"48","author":"Li","year":"1988","journal-title":"Cancer Res"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib17","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/humu.10185","article-title":"Germline TP53 mutations and Li-Fraumeni syndrome","volume":"21","author":"Varley","year":"2003","journal-title":"Hum Mutat"},{"issue":"6","key":"10.1053\/j.seminhematol.2017.04.003_bib18","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1002\/humu.10081","article-title":"The IARC TP53 database: new online mutation analysis and recommendations to users","volume":"19","author":"Olivier","year":"2002","journal-title":"Hum Mutat"},{"issue":"1","key":"10.1053\/j.seminhematol.2017.04.003_bib19","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1136\/jmg.38.1.43","article-title":"Sensitivity and predictive value of criteria for p53 germline mutation screening","volume":"38","author":"Chompret","year":"2001","journal-title":"J Med Genet"},{"issue":"26","key":"10.1053\/j.seminhematol.2017.04.003_bib20","doi-asserted-by":"crossref","first-page":"e108","DOI":"10.1200\/JCO.2009.22.7967","article-title":"2009 version of the Chompret criteria for Li Fraumeni syndrome","volume":"27","author":"Tinat","year":"2009","journal-title":"J Clin Oncol"},{"issue":"23","key":"10.1053\/j.seminhematol.2017.04.003_bib21","doi-asserted-by":"crossref","first-page":"3673","DOI":"10.1002\/cncr.30248","article-title":"Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort","volume":"122","author":"Mai","year":"2016","journal-title":"Cancer"},{"issue":"21","key":"10.1053\/j.seminhematol.2017.04.003_bib22","doi-asserted-by":"crossref","first-page":"2345","DOI":"10.1200\/JCO.2014.59.5728","article-title":"Revisiting Li-Fraumeni syndrome from TP53 mutation carriers","volume":"33","author":"Bougeard","year":"2015","journal-title":"J Clin Oncol"},{"issue":"4","key":"10.1053\/j.seminhematol.2017.04.003_bib23","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1177\/2040620713498161","article-title":"Genetic predispositions to childhood leukemia","volume":"4","author":"Stieglitz","year":"2013","journal-title":"Ther Adv Hematol"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib24","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1038\/ng.2532","article-title":"The genomic landscape of hypodiploid acute lymphoblastic leukemia","volume":"45","author":"Holmfeldt","year":"2013","journal-title":"Nat Genet"},{"issue":"7","key":"10.1053\/j.seminhematol.2017.04.003_bib25","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.5858\/2009-0015-OA.1","article-title":"Myelodysplastic syndromes arising in patients with germline TP53 mutation and Li-Fraumeni syndrome","volume":"134","author":"Talwalkar","year":"2010","journal-title":"Arch Pathol Lab Med"},{"issue":"6","key":"10.1053\/j.seminhematol.2017.04.003_bib26","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/S1470-2045(11)70119-X","article-title":"Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study","volume":"12","author":"Villani","year":"2011","journal-title":"Lancet Oncol"},{"issue":"9","key":"10.1053\/j.seminhematol.2017.04.003_bib27","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.1016\/S1470-2045(16)30249-2","article-title":"Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study","volume":"17","author":"Villani","year":"2016","journal-title":"Lancet Oncol"},{"issue":"12","key":"10.1053\/j.seminhematol.2017.04.003_bib28","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1001\/jama.296.12.1479","article-title":"Prediction of germline mutations and cancer risk in the Lynch syndrome","volume":"296","author":"Chen","year":"2006","journal-title":"Jama"},{"issue":"10","key":"10.1053\/j.seminhematol.2017.04.003_bib29","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1056\/NEJMra012242","article-title":"Hereditary colorectal cancer","volume":"348","author":"Lynch","year":"2003","journal-title":"N Engl J Med"},{"issue":"1","key":"10.1053\/j.seminhematol.2017.04.003_bib30","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/S0959-437X(99)80013-6","article-title":"Eukaryotic DNA mismatch repair","volume":"9","author":"Kolodner","year":"1999","journal-title":"Curr Opin Genet Dev"},{"issue":"10","key":"10.1053\/j.seminhematol.2017.04.003_bib31","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1016\/S0960-9822(95)00218-1","article-title":"DNA-mismatch repair. The intricacies of eukaryotic spell-checking","volume":"5","author":"Kunkel","year":"1995","journal-title":"Curr Biol"},{"key":"10.1053\/j.seminhematol.2017.04.003_bib32","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1146\/annurev.bi.65.070196.000533","article-title":"Mismatch repair in replication fidelity, genetic recombination, and cancer biology","volume":"65","author":"Modrich","year":"1996","journal-title":"Ann Rev Biochem"},{"issue":"6","key":"10.1053\/j.seminhematol.2017.04.003_bib33","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1136\/jmedgenet-2014-102284","article-title":"Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium \u05f3care for CMMRD\u05f3 (C4CMMRD)","volume":"51","author":"Wimmer","year":"2014","journal-title":"J Med Genet"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib34","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1097\/PAS.0b013e31820a091d","article-title":"Immunohistochemical staining for DNA mismatch repair proteins in intestinal tract carcinoma: how reliable are biopsy samples?","volume":"35","author":"Shia","year":"2011","journal-title":"Am J Surg Pathol"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib35","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1038\/nrclinonc.2009.237","article-title":"Microsatellite instability in colorectal cancer-the stable evidence","volume":"7","author":"Vilar","year":"2010","journal-title":"Nat Rev Clin Oncol"},{"issue":"5","key":"10.1053\/j.seminhematol.2017.04.003_bib36","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1016\/j.ejca.2013.12.005","article-title":"Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium","volume":"50","author":"Bakry","year":"2014","journal-title":"Eur J Cancer"},{"issue":"5","key":"10.1053\/j.seminhematol.2017.04.003_bib37","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1136\/jmedgenet-2013-102238","article-title":"Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium \"Care for CMMR-D\" (C4CMMR-D)","volume":"51","author":"Vasen","year":"2014","journal-title":"J Med Genet"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib38","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.ejmg.2015.12.014","article-title":"Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome","volume":"59","author":"Ripperger","year":"2016","journal-title":"Eur J Med Genet"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib39","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1038\/ng.3202","article-title":"Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers","volume":"47","author":"Shlien","year":"2015","journal-title":"Nat Genet"},{"issue":"19","key":"10.1053\/j.seminhematol.2017.04.003_bib40","doi-asserted-by":"crossref","first-page":"2206","DOI":"10.1200\/JCO.2016.66.6552","article-title":"Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency","volume":"34","author":"Bouffet","year":"2016","journal-title":"J Clin Oncol"},{"issue":"8","key":"10.1053\/j.seminhematol.2017.04.003_bib41","first-page":"1010","article-title":"Genetic\/familial high-risk assessment: colorectal version 1.2016, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Cancer","volume":"14","author":"Provenzale","year":"2016","journal-title":"Network"},{"issue":"4","key":"10.1053\/j.seminhematol.2017.04.003_bib42","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1002\/pbc.24019","article-title":"Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred","volume":"59","author":"Durno","year":"2012","journal-title":"Pediatr Blood Cancer"},{"issue":"8","key":"10.1053\/j.seminhematol.2017.04.003_bib43","doi-asserted-by":"crossref","first-page":"e490","DOI":"10.1097\/MPH.0000000000000415","article-title":"Management of acute myeloblastic leukemia in a child with biallelic mismatch repair deficiency","volume":"37","author":"Elhasid","year":"2015","journal-title":"J Pediatr Hematol Oncol"},{"issue":"8","key":"10.1053\/j.seminhematol.2017.04.003_bib44","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1038\/bjc.2012.403","article-title":"Mismatch repair deficiency: a temozolomide resistance factor in medulloblastoma cell lines that is uncommon in primary medulloblastoma tumours","volume":"107","author":"von Bueren","year":"2012","journal-title":"Br J Cancer"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib45","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1111\/j.1399-0004.2011.01635.x","article-title":"Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations","volume":"80","author":"Johannesma","year":"2011","journal-title":"Clin Genet"},{"issue":"26","key":"10.1053\/j.seminhematol.2017.04.003_bib46","doi-asserted-by":"crossref","first-page":"2509","DOI":"10.1056\/NEJMoa1500596","article-title":"PD-1 blockade in tumors with mismatch-repair deficiency","volume":"372","author":"Le","year":"2015","journal-title":"N Engl J Med"},{"key":"10.1053\/j.seminhematol.2017.04.003_bib47","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1146\/annurev-genet-102209-163602","article-title":"The RecQ DNA helicases in DNA repair","volume":"44","author":"Bernstein","year":"2010","journal-title":"Ann Rev Genet"},{"issue":"21","key":"10.1053\/j.seminhematol.2017.04.003_bib48","doi-asserted-by":"crossref","first-page":"10809","DOI":"10.1093\/nar\/gks862","article-title":"The roles of WRN and BLM RecQ helicases in the alternative lengthening of telomeres","volume":"40","author":"Mendez-Bermudez","year":"2012","journal-title":"Nucleic Acids Res"},{"issue":"58","key":"10.1053\/j.seminhematol.2017.04.003_bib49","doi-asserted-by":"crossref","first-page":"9008","DOI":"10.1038\/sj.onc.1205959","article-title":"RecQ family helicases: roles as tumor suppressor proteins","volume":"21","author":"Nakayama","year":"2002","journal-title":"Oncogene"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib50","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1097\/00005792-196605000-00001","article-title":"Werner\u05f3s syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process","volume":"45","author":"Epstein","year":"1966","journal-title":"Medicine"},{"issue":"2","key":"10.1053\/j.seminhematol.2017.04.003_bib51","first-page":"330","article-title":"Mutations in the consensus helicase domains of the Werner syndrome gene. Werner\u05f3s Syndrome Collaborative Group","volume":"60","author":"Yu","year":"1997","journal-title":"Am J Hum Genet"},{"issue":"6","key":"10.1053\/j.seminhematol.2017.04.003_bib52","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1002\/humu.20337","article-title":"The spectrum of WRN mutations in Werner syndrome patients","volume":"27","author":"Huang","year":"2006","journal-title":"Hum Mutat"},{"issue":"9166","key":"10.1053\/j.seminhematol.2017.04.003_bib53","doi-asserted-by":"crossref","first-page":"1766","DOI":"10.1016\/S0140-6736(98)05869-3","article-title":"Prevalence of Werner\u05f3s syndrome heterozygotes in Japan","volume":"353","author":"Satoh","year":"1999","journal-title":"Lancet"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib54","first-page":"213","article-title":"Epidemiology and clinical aspects of Werner\u05f3s syndrome in North Sardinia: description of a cluster","volume":"17","author":"Masala","year":"2007","journal-title":"Eur J Dermatol"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib55","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1038\/nrc1012","article-title":"RecQ helicases: caretakers of the genome","volume":"3","author":"Hickson","year":"2003","journal-title":"Nat Rev Cancer"},{"issue":"10","key":"10.1053\/j.seminhematol.2017.04.003_bib56","doi-asserted-by":"crossref","first-page":"2060","DOI":"10.1093\/hmg\/ddw079","article-title":"The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription","volume":"25","author":"Tang","year":"2016","journal-title":"Hum Mol Genet"},{"issue":"4","key":"10.1053\/j.seminhematol.2017.04.003_bib57","doi-asserted-by":"crossref","first-page":"e59709","DOI":"10.1371\/journal.pone.0059709","article-title":"Spectrum and risk of neoplasia in Werner syndrome: a systematic review","volume":"8","author":"Lauper","year":"2013","journal-title":"PloS One"},{"issue":"2","key":"10.1053\/j.seminhematol.2017.04.003_bib58","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1158\/1055-9965.EPI-06-0678","article-title":"Genetic variation in the premature aging gene WRN: a case-control study on breast cancer susceptibility","volume":"16","author":"Ding","year":"2007","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"issue":"2","key":"10.1053\/j.seminhematol.2017.04.003_bib59","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.canlet.2015.01.022","article-title":"Candidate gene analysis of BRCA1\/2 mutation-negative high-risk Russian breast cancer patients","volume":"359","author":"Sokolenko","year":"2015","journal-title":"Cancer Lett"},{"year":"1993","series-title":"Werner syndrome","author":"Oshima","key":"10.1053\/j.seminhematol.2017.04.003_bib60"},{"key":"10.1053\/j.seminhematol.2017.04.003_bib61","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.arr.2016.03.002","article-title":"Werner syndrome: clinical features, pathogenesis and potential therapeutic interventions","volume":"33","author":"Oshima","year":"2017","journal-title":"Ageing Res Rev"},{"issue":"6","key":"10.1053\/j.seminhematol.2017.04.003_bib62","first-page":"754","article-title":"Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity","volume":"88","author":"Bloom","year":"1954","journal-title":"Am J Dis Child"},{"issue":"4","key":"10.1053\/j.seminhematol.2017.04.003_bib63","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/0092-8674(95)90105-1","article-title":"The Bloom\u05f3s syndrome gene product is homologous to RecQ helicases","volume":"83","author":"Ellis","year":"1995","journal-title":"Cell"},{"year":"1993","series-title":"Bloom\u05f3s syndrome","author":"Sanz","key":"10.1053\/j.seminhematol.2017.04.003_bib64"},{"issue":"4","key":"10.1053\/j.seminhematol.2017.04.003_bib65","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1089\/gte.1998.2.293","article-title":"High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin","volume":"2","author":"Shahrabani-Gargir","year":"1998","journal-title":"Genet Test"},{"issue":"1","key":"10.1053\/j.seminhematol.2017.04.003_bib66","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1002\/mgg3.188","article-title":"Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM","volume":"4","author":"Shastri","year":"2016","journal-title":"Mol Genet Genom Med"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib67","first-page":"248","article-title":"Bloom\u05f3s syndrome. IV. Sister-chromatid exchanges in lymphocytes","volume":"29","author":"German","year":"1977","journal-title":"Am J Hum Genet"},{"issue":"6","key":"10.1053\/j.seminhematol.2017.04.003_bib68","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1097\/00005792-199311000-00003","article-title":"Bloom syndrome: a mendelian prototype of somatic mutational disease","volume":"72","author":"German","year":"1993","journal-title":"Medicine"},{"issue":"1","key":"10.1053\/j.seminhematol.2017.04.003_bib69","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/S0165-4608(01)00392-2","article-title":"Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies","volume":"128","author":"Poppe","year":"2001","journal-title":"Cancer Genet Cytogenet"},{"issue":"5589","key":"10.1053\/j.seminhematol.2017.04.003_bib70","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1126\/science.1074399","article-title":"BLM heterozygosity and the risk of colorectal cancer","volume":"297","author":"Gruber","year":"2002","journal-title":"Science"},{"issue":"12","key":"10.1053\/j.seminhematol.2017.04.003_bib71","doi-asserted-by":"crossref","first-page":"2867","DOI":"10.1002\/ijc.26342","article-title":"High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia","volume":"130","author":"Sokolenko","year":"2012","journal-title":"Int J Cancer"},{"issue":"1","key":"10.1053\/j.seminhematol.2017.04.003_bib72","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/S0165-4608(96)00336-6","article-title":"Bloom\u05f3s syndrome. XX. The first 100 cancers","volume":"93","author":"German","year":"1997","journal-title":"Cancer Genet Cytogenet"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib73","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/S0092-8674(00)81174-5","article-title":"Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome","volume":"93","author":"Varon","year":"1998","journal-title":"Cell"},{"year":"1993","series-title":"Nijmegen breakage syndrome","author":"Varon","key":"10.1053\/j.seminhematol.2017.04.003_bib74"},{"issue":"17","key":"10.1053\/j.seminhematol.2017.04.003_bib75","doi-asserted-by":"crossref","first-page":"3682","DOI":"10.1016\/j.febslet.2010.07.029","article-title":"The MRN complex in double-strand break repair and telomere maintenance","volume":"584","author":"Lamarche","year":"2010","journal-title":"FEBS Lett"},{"issue":"8-9","key":"10.1053\/j.seminhematol.2017.04.003_bib76","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1016\/j.dnarep.2004.03.004","article-title":"Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks","volume":"3","author":"Digweed","year":"2004","journal-title":"DNA Repair"},{"key":"10.1053\/j.seminhematol.2017.04.003_bib77","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1750-1172-7-13","article-title":"Nijmegen breakage syndrome (NBS)","volume":"7","author":"Chrzanowska","year":"2012","journal-title":"Orphanet J Rare Dis"},{"issue":"7","key":"10.1053\/j.seminhematol.2017.04.003_bib78","doi-asserted-by":"crossref","first-page":"3133","DOI":"10.1210\/jc.2009-2628","article-title":"High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study","volume":"95","author":"Chrzanowska","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"10.1053\/j.seminhematol.2017.04.003_bib79","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1067\/mpd.2002.122724","article-title":"Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families","volume":"140","author":"Resnick","year":"2002","journal-title":"J Pediatr"},{"issue":"5","key":"10.1053\/j.seminhematol.2017.04.003_bib80","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1136\/adc.82.5.400","article-title":"The International Nijmegen Breakage Syndrome Study Group","volume":"82","year":"2000","journal-title":"Arch Dis Child"},{"issue":"6","key":"10.1053\/j.seminhematol.2017.04.003_bib81","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1007\/s10875-015-0186-9","article-title":"Nijmegen breakage syndrome: clinical and immunological features, long-term outcome and treatment options - a retrospective analysis","volume":"35","author":"Wolska-Kusnierz","year":"2015","journal-title":"J Clin Immunol"},{"issue":"8","key":"10.1053\/j.seminhematol.2017.04.003_bib82","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1093\/carcin\/bgi360","article-title":"RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability","volume":"27","author":"Heikkinen","year":"2006","journal-title":"Carcinogenesis"},{"issue":"2","key":"10.1053\/j.seminhematol.2017.04.003_bib83","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1002\/pbc.21789","article-title":"Non-Hodgkin lymphoma (NHL) in children with Nijmegen breakage syndrome (NBS)","volume":"52","author":"Dembowska-Baginska","year":"2009","journal-title":"Pediatr Blood Cancer"},{"issue":"4","key":"10.1053\/j.seminhematol.2017.04.003_bib84","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1038\/bmt.2009.207","article-title":"Successful SCT for Nijmegen breakage syndrome","volume":"45","author":"Albert","year":"2010","journal-title":"Bone Marrow Transplant"}],"container-title":["Seminars in Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0037196317300446?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0037196317300446?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T06:26:00Z","timestamp":1758522360000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0037196317300446"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4]]},"references-count":84,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["S0037196317300446"],"URL":"https:\/\/doi.org\/10.1053\/j.seminhematol.2017.04.003","relation":{},"ISSN":["0037-1963"],"issn-type":[{"type":"print","value":"0037-1963"}],"subject":[],"published":{"date-parts":[[2017,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cancer predisposition syndromes associated with myeloid malignancy","name":"articletitle","label":"Article Title"},{"value":"Seminars in Hematology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.seminhematol.2017.04.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}