Surgical and Systemic Treatment of Hereditary Breast Cancer: A Mini-Review With a Focus on BRCA1 and BRCA2 Mutations

Abstract

Hereditary breast cancer accounts for 5%-10% of breast cancer cases. The majority of familial cases have been linked to germline mutations in BRCA1 and BRCA2 genes, though other high penetrance susceptibility genes have also been identified through genomic testing advances. Optimal surgical treatment for these patients, who are of a younger age, has several challenges as it usually involves aggressive therapeutic and risk reducing interventions. At the same time, the therapeutic armamentarium for BRCA1/2 mutation carriers apart from platinum salts, has been enriched with the addition of poly-ADP ribose polymerase (PARP) inhibitors with promising outcomes. In this review we provide a succinct and comprehensive overview of the surgical and systemic treatment options for patients with BRCA1/2 mutation related breast cancer and an update on the most recent systemic treatment advances.

Identification of New Genes Involved in Germline Predisposition to Early-Onset Gastric Cancer

“…The identification of germline variants associated to gastric cancer will help not only identify GC-high risk populations in order to establish preventive strategies and early diagnosis, but also it could help to tailored treatment strategies. During the last years, there is increasing evidence of the benefit of personalized medicine based on the presence of germline mutations, as it is already demonstrated in other tumors (such as breast, ovary and pancreas) in association with BRCA [ 49 , 50 , 51 ]. For example, focusing on GC, it would be interesting to analyze if specific germline mutations have influence in the response to capecitabine as adjuvant therapy in advanced GC patients [ 52 ].…”

Editorial: Hereditary Breast and Ovarian Cancer: Current Concepts of Prevention and Treatment

“…In addition to PARP inhibitors, HR-deficient tumor cells can be sensitive to platinum compounds. In their mini-review, Pouptsis et al describe the most recent systemic treatment advances and clinical outcomes of hereditary breast cancer patients treated with platinum-based regimens and PARP inhibitors (8). In addition, they discuss risk-reducing surgical management options and challenges associated with such interventions in young patients.…”

The immune microenvironment and relation to outcome in patients with advanced breast cancer treated with docetaxel with or without gemcitabine

“…1 The basal-like/triple-negative (TNBC) subtype of breast cancer remains the most challenging, as there are currently few treatment options beyond conventional chemotherapy. 12,3 In recent years, the importance of the immune microenvironment surrounding cancer cells has gained increasing interest with the advent of immunotherapy and the discovery of the significance of an activated immune system for the prognosis of cancer. [4][5][6] In breast cancer, most research has been centered around basal-like/TNBC or HER2 positive subtypes, as these are often characterized by a pronounced inflammatory infiltrate that has shown clear positive prognostic significance.…”