Translational advances regarding hereditary breast cancer syndromes

@article{Gage2012TranslationalAR,
  title={Translational advances regarding hereditary breast cancer syndromes},
  author={Michele M. Gage and Daniel J Wattendorf and L Henry},
  journal={Journal of Surgical Oncology},
  year={2012},
  volume={105}
}
Approximately 5–10% of breast cancers may be inheritable, up to 90% of which are due to mutations in BRCA1 and BRCA2. A substantial minority are caused by non‐BRCA mutations, such as TP53, PTEN, STK11, CHEK2, ATM, BRIP1, and PALB2 mutations. This review highlights translational research advances with regard to the development of probabilistic models for hereditary breast cancer syndromes, the identification of specific genetic mutations responsible for these syndromes, as well as their testing… 
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114 Citations
Highly Influential Citations
4
Background Citations
47
Methods Citations
1

114 Citations

Beyond BRCA: new hereditary breast cancer susceptibility genes.
Familial Breast Cancer and Genetic Predisposition in Breast Cancer
TLDR
BRCA1, BRCA2, and TP53 genes are associated with a high risk of developing breast cancer in carriers and hence are referred to as high-penetrance genes, while single nucleotide polymorphisms (SNPs) are considered low penetrance.
Breast cancer risk associated with CHEK2 mutations.
  • S. Mahon
  • Medicine
    Oncology nursing forum
  • 2014
TLDR
Increasingly, oncology nurses will encounter patients and families affected with mutations on this gene and need to understand the implications it has for screening and treatment.
A review of inherited cancer susceptibility syndromes.
TLDR
Signs and symptoms of the more common cancer syndromes, including hereditary breast and ovarian cancer, Li-Fraumeni, Lynch, familial adenomatous polyposis, retinoblastoma, multiple endocrine neoplasia, and von Hippel-Lindau are described.
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer
TLDR
These patients had a much higher percentage of bilateral breast cancer (BBC) and a lower rate of OC than BRCA-mutated patients and patients with no pathogenic mutations: as a consequence, the surveillance protocol should be customized to the patient genetic characteristics.
Hereditary Breast Cancer Genetics and Risk Prediction Techniques
TLDR
Increased familial breast cancer risk is also observed in families testing negative for high-risk germline mutations, suggesting that polygenic interactions of multiple lower-penetrance susceptibility alleles, in addition to traditional breast cancerrisk factors, are important causes of familial Breast cancer.
Biomarkers for Early Detection of Familial Breast Cancer
TLDR
Known genetic biomarkers are summarized and testing for well-characterized mutations in blood based on a clinical suspicion of familial cancer is a well-known approach for genetic testing in cancer susceptibility.
Considerations in Testing for Inherited Breast Cancer Predisposition in the Era of Personalized Medicine.
First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer
TLDR
An Italian family with a high number of cases of breast cancer and other types of tumour subjected to the MLPA test to verify the presence of BRC a1, BRCA2 and CHEK2 deletions and duplications was described, and a new 23-kb duplication in the CHEk2 gene extending from intron 5 to 13 was identified that was associated with breast cancer in the family.
Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?
TLDR
The past and more recent findings in the field of cancer predisposition genes are summarized, with insights into the role of the encoded proteins and the associated genetic disorders.
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TLDR
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