{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T21:36:44Z","timestamp":1762033004980},"reference-count":10,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["PED"],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:p>The fact that <jats:italic>BRCA<\/jats:italic> genes operate as tumor suppressors is evident from the genetics of the different human disorders caused by inherited mutations. Germline mutations affecting 1 allele of either <jats:italic>BRCA1<\/jats:italic> or <jats:italic>BRCA2<\/jats:italic> confer susceptibility to different types of cancers such as breast cancer and medulloblastoma. A family with a history of cancer was identified in Eastern Turkey in which one of the family members (a 13-year-old boy) had medulloblastoma. Venous blood was collected from available family members. The <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> genes were sequenced in the patient with medulloblastoma and the healthy father. An Asn372His homozygous variation was noted in the <jats:italic>BRCA2<\/jats:italic> gene in the patient with medulloblastoma whereas the variation was heterozygous in the healthy father. A biallelic homozygous variation was demonstrated in the <jats:italic>BRCA2<\/jats:italic> gene, which is important in medulloblastoma suppression, and may have caused medulloblastoma formation in the 13-year-old boy. Further investigations in large human populations with medulloblastoma are necessary for further delineation of <jats:italic>BRCA<\/jats:italic> gene malfunctions and their relationship to medulloblastoma formation, and to clarify the therapeutic implications of these malfunctions.<\/jats:p>","DOI":"10.3171\/2011.8.peds11210","type":"journal-article","created":{"date-parts":[[2011,11,1]],"date-time":"2011-11-01T14:58:56Z","timestamp":1320159536000},"page":"476-478","source":"Crossref","is-referenced-by-count":8,"title":["Variation in the BRCA2 gene in a child with medulloblastoma and a family history of breast cancer"],"prefix":"10.3171","volume":"8","author":[{"given":"Fatih","family":"Bayrakli","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Cumhuriyet University School of Medicine, Sivas; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bekir","family":"Akgun","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Firat University School of Medicine, Elazig, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burcak","family":"Soylemez","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Cumhuriyet University School of Medicine, Sivas; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Metin","family":"Kaplan","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Firat University School of Medicine, Elazig, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa","family":"Gurelik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"key":"b1-0080476","series-title":"Pediatr Blood Cancer","doi-asserted-by":"publisher","first-page":"1140","DOI":"10.1002\/pbc.22139","article-title":"Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor","volume":"53","author":"Dewire","year":"2009"},{"key":"b2-0080476","series-title":"J Child Neurol","doi-asserted-by":"publisher","first-page":"1418","DOI":"10.1177\/0883073809341668","article-title":"Medulloblastoma","volume":"24","author":"Dhall","year":"2009"},{"key":"b3-0080476","series-title":"EMBO J","doi-asserted-by":"publisher","first-page":"2732","DOI":"10.1038\/sj.emboj.7601703","article-title":"BRCA2 is required for neurogenesis and suppression of medulloblastoma","volume":"26","author":"Frappart","year":"2007"},{"key":"b4-0080476","series-title":"Cell Cycle","doi-asserted-by":"publisher","first-page":"2453","DOI":"10.4161\/cc.6.20.4785","article-title":"BRCA2 function and the central nervous system","volume":"6","author":"Frappart","year":"2007"},{"key":"b5-0080476","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1038\/81691","article-title":"A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability","volume":"26","author":"Healey","year":"2000"},{"key":"b6-0080476","series-title":"Blood","doi-asserted-by":"publisher","first-page":"2554","DOI":"10.1182\/blood-2003-06-1970","article-title":"Association of biallelic BRCA2\/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood","volume":"103","author":"Hirsch","year":"2004"},{"key":"b7-0080476","series-title":"J Med Genet","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1136\/jmg.2004.022673","article-title":"Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour","volume":"42","author":"Reid","year":"2005"},{"key":"b8-0080476","series-title":"Childs Nerv Syst","article-title":"Combination chemotherapy with ifosfamide, cisplatin, and etoposide for medulloblastoma: singleinstitute experience and differences in efficacy for subgroups of medulloblastoma","author":"Saito","year":"2011"},{"key":"b9-0080476","series-title":"Oncogene","doi-asserted-by":"publisher","first-page":"7720","DOI":"10.1038\/sj.onc.1210870","article-title":"BRCA2: a universal recombinase regulator","volume":"26","author":"Thorslund","year":"2007"},{"key":"b10-0080476","series-title":"Annu Rev Pathol","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1146\/annurev.pathol.3.121806.151422","article-title":"Linking the cellular functions of BRCA genes to cancer pathogenesis and treatment","volume":"4","author":"Venkitaraman","year":"2009"}],"container-title":["Journal of Neurosurgery: Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/8\/5\/article-p476.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/8\/5\/article-p476.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/8\/5\/article-p476.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,15]],"date-time":"2023-04-15T15:57:27Z","timestamp":1681574247000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/8\/5\/article-p476.xml"}},"subtitle":["Case report"],"short-title":[],"issued":{"date-parts":[[2011,11]]},"references-count":10,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.3171\/2011.8.peds11210","relation":{},"ISSN":["1933-0707","1933-0715"],"issn-type":[{"value":"1933-0707","type":"print"},{"value":"1933-0715","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11]]}}}