ReviewJournal of mammary gland biology and neoplasia2011
Inherited mutations in breast cancer genes--risk and response.
Review in Journal of mammary gland biology and neoplasia, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed.
- The Role of Genetic Mutations in Mitochondrial-Driven Cancer Growth in Selected Tumors: Breast and Gynecological Malignancies.Life (Basel, Switzerland) · 2023Review
- Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes.JAMA network open · 2020Article
- BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature.BMC medical genetics · 2019Review
- Epidemiology of Moderate Alcohol Consumption and Breast Cancer: Association or Causation?Cancers · 2018Review
- Multicenter cross-sectional screening of theOncology letters · 2018Article
- Breast cancer in young women: an overview.Updates in surgery · 2017Review
- Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer.Familial cancer · 2016Article
- Is there an association between invasive lobular carcinoma of the breast and a family history of gastric cancer?Familial cancer · 2016Article
- Article
- An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.Breast cancer research : BCR · 2015Article
- Association of survivin splice variants with prognosis and treatment of breast cancer.World journal of clinical oncology · 2014Review
- Biology of breast cancer in young women.Breast cancer research : BCR · 2014Review
- Review
- Growing recognition of the role for rare missense substitutions in breast cancer susceptibility.Biomarkers in medicine · 2014Review
- ATM-depletion in breast cancer cells confers sensitivity to PARP inhibition.Journal of experimental & clinical cancer research : CR · 2013Article
- Genome-wide sequencing to identify the cause of hereditary cancer syndromes: with examples from familial pancreatic cancer.Cancer letters · 2013Review
- Hereditary breast cancer: ever more pieces to the polygenic puzzle.Hereditary cancer in clinical practice · 2013Article
- The complex genetic landscape of familial breast cancer.Human genetics · 2013Review
- Mitochondria and familial predisposition to breast cancer.Current genomics · 2013Article
- Developmental reprogramming of cancer susceptibility.Nature reviews. Cancer · 2012Review
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germ-line mutations in BRCA1 and BRCA2 confer a high risk of developing breast cancer. They account, however, for only 40% of strongly familial breast cancer cases. Intensive genome-wide searches for other highly-penetrant BRCA genes that, individually account for a sizeable fraction of the remaining heritability has not identified any plausible candidates. The "missing heritability" is thought to be due to cumulative effects of susceptibility alleles associated with low to moderate penetrance, in accordance with a polygenic model of inheritance. In addition, a large number of individually very rare, highly penetrant variants could account for part of the gap. Meanwhile, an understanding of the function of BRCA1 and BRCA2 in the DNA damage response pathway has lead to the identification of a number of breast cancer susceptibility genes including PALB2, CHEK2, ATM and BRIP1, all of which interact directly or indirectly with BRCA1 or BRCA2. Knowledge of how BRCA1 and BRCA2 maintain genomic integrity has also led the development of novel targeted therapies. Here we summarize the recent advances made in the understanding of the functions of these two genes, as well as the risks and responses associated with mutations in these and other breast cancer susceptibility genes.
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Registered trials
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