Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site

Meyer, Stefan; Kingston, Helen; Taylor, Alexander M.; Byrd, P. J.; Brennan, Bernadette; Trueman, Steve; Kelsey, Anna; Taylor, Geoffrey; Eden, O. B.

doi:10.1016/j.cancergencyto.2004.02.022

Cited by 34 publications

(25 citation statements)

References 20 publications

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“…Recent reports suggest a strong correlation between NBS and perineal region rhabdomyosarcoma (Meyer et al 2004) and medulloblastoma (Bakhshi et al 2003;Distel et al 2003), implying that mutations in the NBS1 gene predispose to a variety of childhood malignancies. Moreover, a high frequency of heterozygous mutations in the NBS1 gene was reported in otherwise healthy children who developed acute lymphoblastic leukemia .…”

Section: Family 3 -Mutation 900del25mentioning

confidence: 99%

Screening of Nijmegen Breakage Syndrome 1 Mutations in Four Unrelated Families by Polymerase Chain Reaction Using Sequence-Specific Primers

Masi

Antoccia²,

Spadoni³

et al. 2006

Genetic Testing

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Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by a marked predisposition to lymphoreticular malignancies. The rarity of the disease and the presence, in several cases, of a mild clinical phenotype make diagnosis difficult. The underlying gene, NBS1, consists of 16 exons and encodes nibrin, a member of the hMRE11/hRAD50/hNBS1 protein complex. In addition to the "Slavic mutation," 657del5, identified in more than 100 patients with NBS, 9 other mutations have been found in families of different ethnic origin. We have developed a polymerase chain reaction (PCR) method to rapidly detect the private mutations, 742insGG and 835del4, in exon 7 and the 900del25 mutation in exon 8 of the NBS1 gene. In particular, we designed NBS1-specific primers for wild-type and mutated alleles, and optimized a specific PCR protocol for each mutation. We used this method to analyze 4 unrelated NBS families, 3 from Italy and 1 from Morocco. We believe it could be a useful tool for: (1) confirming the NBS diagnosis in the presence of clinical signs of the disease; (2) identifying NBS heterozygotes and performing prenatal diagnosis in families with affected members; and (3) screening selected populations in which the frequency of NBS might be higher because of a founder effect.

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Section: Family 3 -Mutation 900del25mentioning

confidence: 99%

Screening of Nijmegen Breakage Syndrome 1 Mutations in Four Unrelated Families by Polymerase Chain Reaction Using Sequence-Specific Primers

Masi

Antoccia²,

Spadoni³

et al. 2006

Genetic Testing

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“…NBS patients, alongside with radiation hypersensitivity, display a dramatically reduced tolerance to several DNA-damaging drugs, [31][32][33][34] and it has been recently directly demonstrated that a functional NBS1 protein is essential for the recognition of different, drug-induced DNA lesions. 35 Defects of other genes involved in DSB repair, e.g.…”

Section: Discussionmentioning

confidence: 99%

Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland

Steffen

Nowakowska

Niwińska

et al. 2006

Intl Journal of Cancer

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Recent studies have demonstrated that heterozygous carriers of the NBS1 657del5 mutation have an increased risk for familial and bilateral breast cancer, but similar studies in consecutive breast cancer patients were inconclusive. Here, in a study of 562 nonselected breast cancer patients from Central Poland, we found 11 (1.96%) 657del5 mutation carriers vs. 3.47 expected (OR 3.21, 95%CI: 1.36-7.61, p 5 0.0107) and only 9 (1.6%) carriers of the 5382insC mutation of the BRCA1 gene, most frequently found among breast cancer patients in Poland. No carriers of R215W, another pathogenic mutation of the NBS1 gene, were found in the present study. All carriers of the 657del5 mutation had sporadic breast tumors while 5 of 9 5382insC carriers had a family history of breast/ovarian cancer or bilateral breast carcinoma. In the pooled group of patients from the present and our previous study, carried out also in patients from Central Poland, we obtained the following risk estimates (OR) for 657del5 carriers, as related to the age at breast cancer diagnosis: <40 years: 8.36; (95%CI: 2.57-27.27) p 5 0.0003; <50 years: 4.27 (95%CI: 1.67-10.89) p 5 0.003; 50 years: 2.40 (95%CI: 0.91-6.35) p 5 0.1250; all ages: 3.13 (95% CI: 1.40-7.00) p 5 0.0066. These findings demonstrate conclusively that NBS1 657del5 mutation carriers have a significantly, though moderately increased, age-related risk of breast cancer, and imply that in populations with a high 657del5 carrier frequency this mutation may contribute substantially to the overall incidence of breast cancer, particularly in younger age groups. ' 2006 Wiley-Liss, Inc.

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“…Owing to the early age of onset, in utero exposures have been suggested to have a role in its aetiology, including in utero X-ray exposure (Grufferman, 1991(Grufferman, , 2009, maternal drug use (Grufferman et al, 1993(Grufferman et al, , 1982, advanced maternal age (Grufferman, 1991) and stillbirths (Ghali et al, 1992). In addition, several familial syndromes (Diller et al, 1995;DeBaun and Tucker, 1998;Samuel et al, 1999;Tekin et al, 2002;Meyer et al, 2004;Aoki et al, 2005;Gripp, 2005;Ferrari et al, 2007;Moschovi et al, 2007;Trahair et al, 2007;Li and Fraumeni, 1969a, b) and a larger prevalence of congenital malformations (Ruymann et al, 1988) among affected children suggest that genetic predisposition may be important. However, collectively these factors account for only a small fraction of cases.…”

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confidence: 99%

Birth characteristics and the risk of childhood rhabdomyosarcoma based on histological subtype

et al. 2009

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BACKGROUND: Little is known about risk factors for childhood rhabdomyosarcoma (RMS) and the histology-specific details are rare. METHODS: Case -control studies formed by linking cancer and birth registries of California, Minnesota, New York, Texas and Washington, which included 583 RMS cases (363 embryonal and 85 alveolar RMS) and 57 966 randomly selected control subjects, were analysed using logistic regression. The associations of RMS (overall, and based on embryonal or alveolar histology) with birth weight across five 500 g categories (from 2000 to 4500 g) were examined using normal birth weight (2500 -3999 g) as a reference. Large (490th percentile) and small (o10th percentile) size for gestational age were calculated based on birth weight distributions in controls and were similarly examined. RESULTS: High birth weight increased the risk of embryonal RMS and RMS overall. Each 500 g increase in birth weight increased the risk of embryonal RMS (odds ratio (OR) ¼ 1.27, 95% confidence interval (CI) ¼ 1.14 -1.42) and RMS overall (OR ¼ 1.18, 95% CI ¼ 1.09 -1.29). Large size for gestational age also significantly increased the risk of embryonal RMS (OR ¼ 1.42, 95% CI ¼ 1.03 -1.96). CONCLUSIONS: These data suggest a positive association between accelerated in utero growth and embryonal RMS, but not alveolar RMS. These results warrant cautious interpretation owing to the small number of alveolar RMS cases.

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Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site

Cited by 34 publications

References 20 publications

Screening of Nijmegen Breakage Syndrome 1 Mutations in Four Unrelated Families by Polymerase Chain Reaction Using Sequence-Specific Primers

Screening of Nijmegen Breakage Syndrome 1 Mutations in Four Unrelated Families by Polymerase Chain Reaction Using Sequence-Specific Primers

Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland

Birth characteristics and the risk of childhood rhabdomyosarcoma based on histological subtype

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