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Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. Online.
Hum Mutat. 1999; 13(3):256.HM

Abstract

Since the identification of the BRCA1 and BRCA2 genes (MIM#s 113705 and 600185), more than hundred different mutations throughout both genes have been reported. Recurrent mutations are rare and mainly due to founder effects. We analyzed 12 sporadic female patients with breast cancer before age 35, as well as 16 unrelated families, presenting with either (i) at least 3 first degree relatives with breast and/or ovarian cancer diagnosed at any age, or (ii) at least 2 first and/or second degree relatives with breast and/or ovarian cancer before age 45 years. We performed a protein truncation test for BRCA1 exon 11 and BRCA2 exons 10 and 11 and heteroduplex analysis for all the remaining exons of BRCA1 and 2. Presence of genomic deletions encompassing exons 13 or 22 of BRCA1, known to be Dutch founder mutations, was investigated by PCR. In 6/16 (37.5%) unrelated families the causal mutation in either the BRCA1 or BRCA2 gene was identified. Four different mutations were found in the BRCA1 gene: IVS5+3A>G (intron 5), 1191delC (exon 11), R1443X (exon 13), IVS22+5G>A (intron 22) and two in the BRCA2 gene: 6503delTT (exon 11), 6831delTG (exon 11). 1191delC (BRCA1) and 6831delTG (BRCA2) are novel mutations. IVS5+3A>G in exon 5 of BRCA1 published by Peelen et al. (1997) as a novel Belgian mutation, was identified in one additional family, not fulfilling our inclusion criteria. In the group of 12 sporadic female patients no mutations were found.

Authors+Show Affiliations

Center for Medical Genetics, University Hospital Gent, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10090482

Citation

Claes, K, et al. "Mutation Analysis of the BRCA1 and BRCA2 Genes Results in the Identification of Novel and Recurrent Mutations in 6/16 Flemish Families With Breast And/or Ovarian Cancer but Not in 12 Sporadic Patients With Early-onset Disease. Mutations in Brief No. 224. Online." Human Mutation, vol. 13, no. 3, 1999, p. 256.
Claes K, Machackova E, De Vos M, et al. Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. Online. Hum Mutat. 1999;13(3):256.
Claes, K., Machackova, E., De Vos, M., Mortier, G., De Paepe, A., & Messiaen, L. (1999). Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. Online. Human Mutation, 13(3), 256.
Claes K, et al. Mutation Analysis of the BRCA1 and BRCA2 Genes Results in the Identification of Novel and Recurrent Mutations in 6/16 Flemish Families With Breast And/or Ovarian Cancer but Not in 12 Sporadic Patients With Early-onset Disease. Mutations in Brief No. 224. Online. Hum Mutat. 1999;13(3):256. PubMed PMID: 10090482.
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TY - JOUR T1 - Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. Online. AU - Claes,K, AU - Machackova,E, AU - De Vos,M, AU - Mortier,G, AU - De Paepe,A, AU - Messiaen,L, PY - 1999/3/25/pubmed PY - 2000/6/22/medline PY - 1999/3/25/entrez SP - 256 EP - 256 JF - Human mutation JO - Hum Mutat VL - 13 IS - 3 N2 - Since the identification of the BRCA1 and BRCA2 genes (MIM#s 113705 and 600185), more than hundred different mutations throughout both genes have been reported. Recurrent mutations are rare and mainly due to founder effects. We analyzed 12 sporadic female patients with breast cancer before age 35, as well as 16 unrelated families, presenting with either (i) at least 3 first degree relatives with breast and/or ovarian cancer diagnosed at any age, or (ii) at least 2 first and/or second degree relatives with breast and/or ovarian cancer before age 45 years. We performed a protein truncation test for BRCA1 exon 11 and BRCA2 exons 10 and 11 and heteroduplex analysis for all the remaining exons of BRCA1 and 2. Presence of genomic deletions encompassing exons 13 or 22 of BRCA1, known to be Dutch founder mutations, was investigated by PCR. In 6/16 (37.5%) unrelated families the causal mutation in either the BRCA1 or BRCA2 gene was identified. Four different mutations were found in the BRCA1 gene: IVS5+3A>G (intron 5), 1191delC (exon 11), R1443X (exon 13), IVS22+5G>A (intron 22) and two in the BRCA2 gene: 6503delTT (exon 11), 6831delTG (exon 11). 1191delC (BRCA1) and 6831delTG (BRCA2) are novel mutations. IVS5+3A>G in exon 5 of BRCA1 published by Peelen et al. (1997) as a novel Belgian mutation, was identified in one additional family, not fulfilling our inclusion criteria. In the group of 12 sporadic female patients no mutations were found. SN - 1059-7794 UR - https://www.unboundmedicine.com/medline/citation/10090482/Mutation_analysis_of_the_BRCA1_and_BRCA2_genes_results_in_the_identification_of_novel_and_recurrent_mutations_in_6/16_flemish_families_with_breast_and/or_ovarian_cancer_but_not_in_12_sporadic_patients_with_early_onset_disease__Mutations_in_brief_no__224__Online_ L2 - https://doi.org/10.1002/(SICI)1098-1004(1999)13:3<256::AID-HUMU12>3.0.CO;2-M DB - PRIME DP - Unbound Medicine ER -