Clinical Breast Cancer

Effect of Breast Surgery on Quality of Life in BRCA Mutation Carriers With Invasive Breast Cancer: A CANTO Database Study

Effective Surveillance of High-Risk Women

This study addresses the effectiveness of risk models and screening breast magnetic resonance imaging (MRI) in women who have atypical hyperplasia (AH), lobular carcinoma in situ (LCIS), or a family history of breast cancer, but not a genetic mutation. A retrospective review of 444 women who had 458 breast screening MRIs at a community teaching hospital over a 12-month period between March 25, 2014 and March 31, 2015 was performed. The patients underwent high risk screening with breast MRIs alternating with mammograms every 6 months. After excluding patients with prior breast or ovarian cancer, genetic mutations, and chest wall radiation, 200 remaining patients constituted the study cohort. Over the following 5 years, the patients were screened with MRIs alternating with mammograms every 6 months. A total of 961 total MRI screenings were performed over the entire 5-year period of the study. A total of 200 women fit the study criteria. Of these 103 had a prior history of AH or LCIS. Over the 5-year period, 60 women dropped out of the screening regimen, 6 patients were diagnosed with breast cancer on screening MRIs, and 2 additional patients were diagnosed with breast cancer on screening mammograms. Surprisingly, the highest Tyrer-Cuzick (T-C) scores did not correlate with increased development of breast cancers in our population. This study shows that there is wide variation in the results of risk assessment models. Risk models may overestimate breast cancer risk, suggesting that re-evaluation of current risk assessment and screening protocols is warranted.

Menopausal Symptom Burden in Premenopausal Breast Cancer Patients: Interaction of Chemotherapy and Ovarian Function Suppression on Tamoxifen Treatment

Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer

Breast cancer is the most common malignancy in women and thought to be hereditary in 10% of patients. Recent next-generation sequencing studies have increased the detection of pathogenic or likely pathogenic (P/LP) variants in genes other than BRCA1/2 in patients with breast cancer. This study evaluated pathogenic variants, likely pathogenic variants, and variants of unknown significance in 18 hereditary cancer susceptibility genes in patients with BRCA1/2-negative breast cancer. This retrospective study included 188 high-risk BRCA1/2-negative patients with breast cancer tested with a multigene cancer panel using next-generation sequencing. Among 188 proband cases, 18 variants in 21 patients (11.1%) were classified as P/LP in PALB2 (n = 6), CHEK2 (n = 5), MUTYH (n = 4), ATM (n = 3), TP53 (n = 2), BRIP1 (n = 1), and MSH2 (n = 1). Three novel P/LP variants were identified. An additional 28 variants were classified as variants of unknown significance and detected in 30 different patients (15.9%). This is one of the largest study from Turkey to investigate the mutation spectrum in non-BRCA hereditary breast cancer susceptibility genes. A multigene panel test increased the likelihood of identifying a molecular diagnosis in patients with BRCA 1/2-negative breast cancer at risk for a hereditary breast cancer syndrome. More studies are needed to enable the clinical interpretation of these P/LP variants in hereditary patients with breast cancer.

Distribution of HER2 Low in Tumors of Patients With Hereditary Breast Cancer According to Germline Pathogenic or Likely Pathogenic Genetic Variants

Impact of Anti-Estrogen Therapy on Early Cardiovascular Referrals, Tests and Medications in Premenopausal Women with Operable Breast Cancer

Cost-Effectiveness Analysis of Adjuvant Endocrine Therapy With Ovarian Suppression in Premenopausal Patients With Hormone Receptor-Positive Early Breast Cancer in China

A Retrospective Analysis of the Relationship Between the Result of BRCA1/2 Genetic Testing and Surgical Method Selection in Japan

We studied the extent of BRCA1/2 genetic testing to help select the surgical approach for patients with breast cancer in Japan remains unclear. The study subjects were female patients with primary unilateral invasive breast cancer considered as candidates for breast-conserving surgery who underwent preoperative BRCA1/2 genetic testing. A retrospective analysis was performed on the results of BRCA1/2 genetic testing and surgical method selection using national registration data from the Japanese Hereditary Breast and Ovarian Cancer Syndrome Consortium. Our study included 318 female patients. Among these patients, 23.7% of patients with BRCA1/2 mutations and 61.8% of patients without these variants underwent breast-conserving surgery (P < .01). Among the patients with BRCA1/2 mutations, those who chose breast-conserving surgery tended not to undergo risk-reducing salpingo-oophorectomy (P < .05). Among the patients with BRCA1/2 mutations who underwent mastectomy for the affected side, 31.8% received contralateral risk-reducing mastectomy. Patients diagnosed with breast cancer under the age of 50 years were more likely to have contralateral risk-reducing mastectomy than patients over the age 50 years (P < .05). Patients with BRCA1/2 mutations tend to choose mastectomy. However, it is speculated that the final surgical method selection is made in consideration of not only the test results but also with careful consideration of the patient, taking into account other factors including individual values for risk-reducing surgeries and the age of breast cancer onset.