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Part Description

LP31855-7   BRCA2 gene
The BRCA2 gene (breast cancer 2, early onset) [HGNC Gene ID:1101] is located on chromosome 13q12.3. Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008] [NCBI Gene ID:675] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
BRCA2 gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
BRCA2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name
BRCA2 gene Mut Tested Bld/T
Display Name
BRCA2 gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
BRCA2 gene variants tested for, Blood or tissue specimen

Part Model Get Info

  • Component
    BRCA2 gene mutations tested for
    LP227832-5
    • Analyte
      BRCA2 gene mutations tested for
      LP227832-5
      • Component Numerator
        BRCA2 gene mutations tested for
        LP227832-5
        • Component Numerator Core
          BRCA2 gene
          LP31855-7
        • Component Numerator Core Suffix
          mutations tested for
          LP32421-7
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.14
Last Updated
Version 2.52 (MIN)
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen BRCA2 testované mutace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο BRCA2 εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: BRCA2 MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο BRCA2 εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-ARSpanish (Argentina)gen BRCA2.C.6174 DEL T:presencia o identidad:punto en el tiempo:tejido, no especificado:Nominal:genética molecular
es-ESSpanish (Spain)Gen BCRA2 Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Mutaciones del gen BRCA2 analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)BRCA2 gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)BRCA2, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene BRCA2 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
ko-KRKorean (Korea, Republic Of)BRCA2 유전자 돌연변이 분석용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (Netherlands)BRCA2-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: BRCA2 gen molgen
pl-PLPolish (Poland)BRCA2 gen badanie w kierunku mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen BRCA2 wynik kategorialny
pt-BRPortuguese (Brazil)BRCA2 teste para mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; BCRA2 gene; Ashkenazi jewish workup; Breast cancer 2, early onset; FANCB; FANCD1; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)BRCA2 ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)BRCA2 geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)BRCA2 基因 已测试的突变:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: Ashkenazi 犹太人群全面身体检查;Ashkenazi 犹太人群诊断检查;FANCB;FANCD1;乳腺癌 2, 早期发病;北欧犹太人群全面身体检查;北欧犹太人群诊断检查;阿肯纳西犹太人群全面身体检查;阿肯纳西犹太人群诊断检查 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 存在;存在与否;特征标识;身份;身份标识 已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的 已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 血;血液 遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=38531-0