ReviewCellular oncology (Dordrecht, Netherlands)2014
Etiology of familial breast cancer with undetected BRCA1 and BRCA2 mutations: clinical implications.
Review in Cellular oncology (Dordrecht, Netherlands), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 22 citations in OpenAlex.
- SMC6 expression & outcome of breast cancer.The Indian journal of medical research · 2025Article
- Detection of genomic variants in BRCA1 and BRCA2 across gastric cancer patients using next generation sequencing.American journal of translational research · 2024Article
- Relationship between homologous recombination deficiency and clinical features of breast cancer based on genomic scar score.Breast (Edinburgh, Scotland) · 2023Article
- BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso.Journal of public health in Africa · 2018Article
- A novel loss-of-function heterozygous BRCA2 c.8946_8947delAG mutation found in a Chinese woman with family history of breast cancer.Journal of cancer research and clinical oncology · 2017Article
- Genomic rearrangement screening of theJournal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2016Article
- Decreased CDK10 expression correlates with lymph node metastasis and predicts poor outcome in breast cancer patients - a short report.Cellular oncology (Dordrecht, Netherlands) · 2015Article
- Identification of miR-10b, miR-26a, miR-146a and miR-153 as potential triple-negative breast cancer biomarkers.Cellular oncology (Dordrecht, Netherlands) · 2015Article
- Article
- The cancer genome: from structure to function.Cellular oncology (Dordrecht, Netherlands) · 2014Article
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1 author at 1 institution in 1 country.
Funding
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Abstract
backgroundFamilial breast cancer accounts for 20-30 % of all breast cancer cases. Mutations in the BRCA1 and BRCA2 genes account for the majority of high risk families with both early onset breast cancer and ovarian cancer. Most of the families with less than six breast cancer cases and no ovarian cancer do not carry BRCA1 or BRCA2 mutations that can be detected using routine sequencing protocols. Here, we aimed to review the etiology of familial breast cancer in cases without BRCA1 and BRCA2 mutations.
resultsAfter excluding BRCA1 and BRCA2 mutations, factors proposed to contribute to familial breast cancer include: chance clustering of apparently sporadic cases, shared lifestyle, monogenic inheritance, i.e., dominant gene mutations associated with a high risk (TP53, PTEN, STK11), dominant gene mutations associated with a relatively low risk (ATM, BRIP1, RLB2), recessive gene mutations associated with horizontal inheritance patterns (sister-sister), and polygenic inheritance where susceptibility to familial breast cancer is thought to be conferred by a large number of low risk alleles.
conclusionsCurrent evidence suggests that in the majority of cases with BRCA1 and BRCA2 negative familial breast cancer the etiology is due to interactions of intermediate or low risk alleles with environmental and lifestyle factors. Thus, a careful selection of patients submitted to genetic testing is needed. Clearly, further research is required to fully elucidate the etiology of non-BRCA familial breast cancer.
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