ArticleBritish journal of cancer2004
BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.
Article in British journal of cancer, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
- Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.NPJ precision oncology · 2024Article
- A BRCA2 germline mutation and high expression of immune checkpoints in a TNBC patient.Cell death discovery · 2023Article
- Article
- Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.Cancers · 2021Article
- Recurrent Mutations inCancers · 2021Article
- Performance evaluation of an amplicon-based next-generation sequencing panel for BRCA1 and BRCA2 variant detection.Journal of clinical laboratory analysis · 2020Article
- Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.BMC cancer · 2020Article
- Metastatic Thymoma Harboring a Deleterious BRCA2 Mutation Derives Durable Clinical Benefit from Olaparib.The oncologist · 2020Review
- BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific.Colombia medica (Cali, Colombia) · 2019Article
- BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.PloS one · 2018Article
- New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.BMC medical genomics · 2015Article
- Functional assays for analysis of variants of uncertain significance in BRCA2.Human mutation · 2014Review
- A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.BioMed research international · 2013Review
- Article
- Article
- Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.The EPMA journal · 2010Article
- Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals.BMC cancer · 2008Article
- Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.BMC cancer · 2008Article
- Characterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese family.Familial cancer · 2008Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Worldwide variation in the distribution of BRCA1 and BRCA2 mutations is well recognised, and for the Belgian population no comprehensive studies about BRCA1/2 mutation spectra or frequencies have been published. We screened the complete coding region of both genes in 451 individuals from 349 Belgian families referred to a family cancer clinic and identified 49 families with a BRCA1 and 26 families with a BRCA2 mutation. Six major recurrent mutations (BRCA1 IVS5+3A>G, 2478-2479insG, E1221X and BRCA2 IVS6+1G>A, 6503-6504delTT, 9132delC) accounted for nearly 60% of all mutations identified. Besides 75 true pathogenic mutations, we identified several variants of unknown clinical significance. In combination with a family history, an early average age of female breast cancer diagnosis (P<0.001), and the presence of a relative with ovarian cancer (P<0.0001) or multiple primary breast cancers (P=0.002), increased the chance for finding a mutation. Male breast cancer was indicative of a BRCA2 mutation segregating in the family (P=0.002). Mutations in the 5'-end of BRCA1 and BRCA2 were associated with a significantly increased risk for ovarian cancer relative to the central portion of the gene. Our study suggests a role for additional breast cancer susceptibility genes in the Belgian population, since mutation detection ratios were low in high-risk breast cancer-only families as compared to breast-ovarian cancer families. Given the large proportion of recurring mutations, molecular testing can now be organised in a more cost-effective way. Our data allow optimisation of genetic counselling and disease prevention in Belgian breast/ovarian cancer families.
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