Genetics of breast cancer: management strategies and risk-reducing surgery.

  title={Genetics of breast cancer: management strategies and risk-reducing surgery.},
  author={Rajeshkumar Balasubramanian and Rachel C. Rolph and Catrin Morgan and Hisham Hamed},
  journal={British journal of hospital medicine},
  volume={80 12},
The last two decades have witnessed major advances in genetic sequencing which have led to more accurate identification of women at risk of developing breast cancer and calculating the associated cancer risk. This review discusses the current genetic mutations conferring risk of developing breast cancer and the management pathway for these women with identifiable mutations as well as those with a strong family history for breast cancer. Management of these individuals is complex and should… 

A narrative review of sociodemographic risk and disparities in screening, diagnosis, treatment, and outcomes of the most common extrathoracic malignancies in the United States

A narrative review of current disparities in screening, treatment, and outcomes for patients with breast, prostate, and colorectal malignancies is provided.

Bioinformatics analysis on enrichment analysis of potential hub genes in breast cancer

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Study of Additional Interactions of Heterodimeric GW7604 Derivatives at the Coactivator Binding Site through Pharmacophore Modeling

  • Nilesh S. Kadu
  • Biology, Chemistry
    International Journal for Research in Applied Science and Engineering Technology
  • 2021
An attempt is made to develop consensus pharmacophore model of heterodimeric GW7604 derivatives using alignment approach, which revealed the importance of structural features and their correlation with the biological activity.

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The case of two patients who developed diffuse large B cell lymphoma after a long course of hairy cell leukaemia and the occurrence of a third malignant disease are presented.

LncRNA ST7-AS1 is a Potential Novel Biomarker and Correlated With Immune Infiltrates for Breast Cancer

Low expression of lncRNA ST7-AS1 indicates poor prognosis and has an impact on cell cycle, DNA repair, and proportion of infiltrating immune cells in the BRC microenvironment, which can be used as a protective prognostic marker and a potential treatment target for BRC.

Green Tea Epigallocatechin-3-Gallate Regulates Autophagy in Male and Female Reproductive Cancer

An overview of the current knowledge of EGCG in targeting autophagy and its related signaling mechanism in reproductive cancers is provided to shed light on the significance of green tea as a potential therapeutic treatment for reproductive cancers through regulating Autophagy.

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New 1,3,4-Thiadiazole Derivatives with Anticancer Activity

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Synthesis, Molecular Docking Study, and Cytotoxic Activity against MCF Cells of New Thiazole–Thiophene Scaffolds

Investigating novel compounds that may be useful in designing new, less toxic, selective, and potent breast anticancer agents is still the main challenge for medicinal chemists. Thus, in the present



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Among a cohort of women with BRCa1 and BRCA2 mutations, the use of risk-reducing mastectomy was associated with a lower risk of breast cancer, first diagnosis of breastcancer, all-cause mortality, breast cancer-specific mortality, and ovarian cancer- specific mortality.

Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

Prospective risk estimates for breast cancer, ovarian cancer, and contralateral breast cancer in a prospective series of mutation carriers confirm findings from retrospective studies that common breast cancer susceptibility alleles in combination are predictive of breast cancer risk for BRCA2 carriers.

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

HGC syndrome may be best defined by mutations in CDH1 and closely related genes, rather than through clinical criteria that capture families with heterogeneous susceptibility profiles, providing more precise estimates of age-associated risks of gastric and breast cancer that will improve counseling of unaffected carriers.

Tamoxifen for the prevention of breast cancer: current status of the National Surgical Adjuvant Breast and Bowel Project P-1 study.

Despite the potential bias caused by the unblinding of the P-1 trial, the magnitudes of all beneficial and undesirable treatment effects of tamoxifen were similar to those initially reported, with notable reductions in breast cancer and increased risks of thromboembolic events and endometrial cancer.

Breast-cancer risk in families with mutations in PALB2.

The data suggest the breast-cancer risk for PALB2 mutation carriers may overlap with that for BRCA1 mutation carriers, and loss-of-function mutations in PALB1 are an important cause of hereditary breast cancer.

Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence.

The results suggest that the majority of breast cancer families with less than four cases and no ovarian cancer are not due to rare highly penetrant genes such as BRCA1 but are more likely to be due either to chance or to more common genes of lower penetrance.

Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome

Patients with germline PTEN mutations, particularly females, have a substantial risk of developing one or more tumours from a broad tumour spectrum and major genotype–phenotype associations could not be identified.

High Cancer Risk in Peutz–Jeghers Syndrome: A Systematic Review and Surveillance Recommendations

A systematic review to assess cancer risks in PJS patients and developed a surveillance recommendation to detect malignancies in an early phase and to remove polyps that may be premalignant and may cause complications, so as to improve the outcome.