Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

European Journal of Human Genetics

Volumn 8, Issue 11, 2000, Pages 900-902

  Varon, Raymonda ^a   Seemanova, Eva ^b   Chrzanowska, Krystyna ^c   Hnateyko, Oleg ^d   Piekutowska Abramczuk, Dorota ^c   Krajewska Walasek, Malgorzata ^c   Sykut Cegielska, Jolanta ^c   Sperling, Karl ^a   Reis, André ^a,e  

^a HUMBOLDT UNIVERSITY   (Germany)

^b CHARLES UNIVERSITY   (Czech Republic)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^d Institute of Hereditary Pathology   (Ukraine)

^e MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

Author keywords

657del5; Carrier frequency; NBS; Slav populations

Indexed keywords

ARTICLE; CANCER SUSCEPTIBILITY; CHILD; CHROMOSOME DISORDER; CLINICAL FEATURE; CONTROLLED STUDY; CZECH REPUBLIC; DISEASE CARRIER; EXON; FREQUENCY ANALYSIS; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; HUMAN; IMMUNE DEFICIENCY; LYMPHATIC SYSTEM DISEASE; MAJOR CLINICAL STUDY; MALIGNANT NEOPLASTIC DISEASE; MICROCEPHALY; NEWBORN; NIJMEGEN BREAKAGE SYNDROME; POLAND; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; RADIOSENSITIVITY; UKRAINE;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CZECH REPUBLIC; GENE FREQUENCY; GENETIC SCREENING; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MICROCEPHALY; MUTATION; POLAND; PREVALENCE; SEQUENCE DELETION; SEVERE COMBINED IMMUNODEFICIENCY; SYNDROME; UKRAINE;

EID: 0033710938     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200554     Document Type: Article

References (11)

1. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
2. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
3. An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability
4. Breast and other cancers in families with ataxia-telangiectasia
5. Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia
6. Genetics and B-cell leukaemia
7. Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia
8. Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: No association with risk of breast cancer
9. First-trimester chromosomal analysis of chorionic villi obtained by direct vision technique
10. Therapy for non-Hodgkin lymphoma in children with primary immunodeficiency: Analysis of 19 patients from the BFM trials
11. Mutations in the nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL)