ArticleFamilial cancer2013
Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
Article in Familial cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Case Report: Functional validation of a rare variantFrontiers in oncology · 2025Article
- Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants.Hereditary cancer in clinical practice · 2024Article
- Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer.Journal of human genetics · 2023Article
- Clinical characterization and genomic landscape of gynecological cancers among patients attending a Chinese hospital.Frontiers in oncology · 2023Article
- Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.Hereditary cancer in clinical practice · 2022Article
- Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.Molecular genetics and genomics : MGG · 2022Article
- A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel.Familial cancer · 2022Article
- Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants.Frontiers in oncology · 2022Article
- Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.PloS one · 2021Article
- BRCA2 c.8827C>T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancer.Molecular genetics & genomic medicine · 2020Article
- A Multi-Center Study ofCancers · 2019Article
- Non-Journal of global oncology · 2019Article
- Spectrum and prevalence ofHereditary cancer in clinical practice · 2019Article
- Hereditary breast and ovarian cancer in Andalusian families: a genetic population study.BMC cancer · 2018Article
- Article
- An elderly man with remote history of metastatic melanoma now with localized pancreas cancer and new liver masses.Journal of gastrointestinal oncology · 2017Article
- Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.Hereditary cancer in clinical practice · 2017Review
- Genomic Disparities in Breast Cancer Among Latinas.Cancer control : journal of the Moffitt Cancer Center · 2016Article
- Screening of the BRCA1 gene in Brazilian patients with breast and/or ovarian cancer via high-resolution melting reaction analysis.Familial cancer · 2016Article
- BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.Familial cancer · 2015Article
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16 authors.
Funding
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Abstract
During the first 6 years of the Program of Genetic Counselling in Cancer of Valencia (eastern Spain), 310 mutations (155 in BRCA1 and 155 in BRCA2) in 1,763 hereditary breast (BC) and ovarian cancer (OC) families were identified. Of the mutations found 105 were distinct (53 in BRCA1 and 52 in BRCA2), eight new and 37 recurrent. Two of the novel mutations were frame-shift placed in exons 2 and 11 of BRCA1 and the remaining six were placed in BRCA2; four frame-shift (three in exon 11 and one in exon 23), one deletion of the entire exon 19 and one in the intervening sequence of exon 22. The BRCA1 mutations with higher recurrence were c.66_68delAG, c.5123C > A, c.1961delA, c.3770_3771delAG and c.5152+5G > A that covered 45.2% of mutations of this gene. The age of onset of BCs of c.68_69delAG mutation carriers occurs later than for the other recurrent mutations of this gene (45 vs. 37 years; p = 0.008). The BRCA2 mutations with higher recurrence were c.9026_9030delATCAT, c.3264insT and c.8978_8991del14 which represented 43.2% of all mutations in this gene, being the most recurrent mutation by far c.9026_9030delATCAT that represents 21.3% of BRCA2 mutations and 10.6% of all mutations. Probands with family histories of BC and OC, or OC and/or BC in at least two first degree relatives, were the more likely to have BRCA1/BRCA2 mutations (35.2% of the total mutations). And that most BRCA1mutations (73.19% mutations) occurred in probands with early-onset BC or with family history of OC.
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