Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers

The most common breast cancer (BC) susceptibility genes beyond BRCA1/2 are ATM and CHEK2. For the purpose of exploring the clinicopathologic characteristics of BC developed by ATM or CHEK2 mutation carriers, we reviewed the archive of our Family Cancer Clinic. Since 2018, 1185 multi-gene panel tests have been performed. Nineteen ATM and 17 CHEK2 mutation carriers affected by 46 different BCs were identified. A high rate of bilateral tumors was observed in ATM (26.3%) and CHEK2 mutation carriers (41.2%). While 64.3% of CHEK2 tumors were luminal A-like, 56.2% of ATM tumors were luminal B-like/HER2-negative. Moreover, 21.4% of CHEK2-related invasive tumors showed a lobular histotype. About a quarter of all ATM-related BCs and a third of CHEK2 BCs were in situ carcinomas and more than half of ATM and CHEK2-related BCs were diagnosed at stage I-II. Finally, 63.2% of ATM mutation carriers and 64.7% of CHEK2 mutation carriers presented a positive BC family history. The biological and clinical characteristics of ATM and CHEK2-related tumors may help improve diagnosis, prognostication and targeted therapeutic approaches. Contralateral mastectomy should be considered and discussed with ATM and CHEK2 mutation carriers at the first diagnosis of BC.

Inflammatory Breast Cancer in a Very Young Genetically Susceptible Woman: Case Presentation in a Tumour Board Session, Discussion and Decision-Making

Background: Inflammatory breast cancer is a very aggressive type of breast cancer which invades skin lymphatics. The standard treatment includes neoadjuvant chemotherapy followed by modified radical mastectomy and postsurgical radiation. Preserving the skin or nipple are not considered reasonable due to the involvement of the dermal lymphatics and therefore skin sparing or nipplesparing mastectomy are not usually carried out for this type of breast cancer. Case presentation: In this article, we present a case of inflammatory breast cancer in a very young woman who was positive for BRCA2 genes. Question: The possibility to perform nipple sparing or skin sparing mastectomy and immediate breast reconstruction, and the indication for prophylactic contralateral mastectomy as discussed in the tumor board are presented in this article. Conclusion: Neither of the more conservative techniques of mastectomy was appropriate for this case. Also, the prognosis of the patient mostly depends on the course of the ipsilateral tumor and prophylactic mastectomy would be wise only if the subsequent course of the disease is favourable.

Are there inequities in reconstruction after mastectomy in breast cancer patients related to race or insurance status?

e12615 Background: Patients with invasive or in-situ breast cancers may increasingly be offered bilateral mastectomy with reconstruction with a view towards achieving symmetry and risk reduction. We investigated whether this treatment option was offered equally based on race and insurance status. Methods: Rates of mastectomy and reconstruction were studied among 4703 patients diagnosed or treated at Ascension St John Hospital, Ascension Macomb Oakland Hospital, and Ascension Providence Hospital between 2005 and 2015. Data collected included demographics, tumor characteristics, insurance (primary payer), first course of surgical treatment, vital status, and cause of death. Cases coded as contralateral mastectomy and reconstruction were considered as representative of “bilateral mastectomy” and reconstruction. Results: Insurance status could be definitively categorized as HMO/PPO, fee for service (FFS), Medicare, or Medicaid in 2375 breast cancer patients. Medicaid HMO was categorized as Medicaid and Medicare with or without supplemental insurance was categorized as Medicare. For simplicity, cases coded as uninsured, other, and NOS were not analyzed further. A total of 406 of 2375 (17.0%) were coded as contralateral mastectomy with reconstruction. Smaller numbers of Medicare cases had contralateral mastectomy and reconstruction (7.3%) compared to 23.3% for HMO/PPO, 26.3% for FFS, and 16% for Medicaid, presumably related to older age. Within each insurance category, similar proportions of Caucasian and African American women were treated with contralateral mastectomy (Table) compared to all patients (Table). Conclusions: Patients having Medicaid insurance had lower rates of contralateral mastectomy and reconstruction compared to HMO/PPO and FFS cases. African American race did not appear to be associated with lower rates of this surgery within the Ascension St John, Ascension Macomb Oakland, and Ascension Providence hospitals. [Table: see text]

Risk reducing mastectomy in patients with brca mutation: initial experience

Introduction: There are no randomized studies that assess the role of risk-reducing mastectomy in decreasing the mortality of mutated patients; however, major prospective studies show a decrease in the incidence of breast cancer. The absolute reduction in the risk of breast cancer ranges from 2% to 7%, but the reduction of the risk of developing breast cancer is higher than 90%. The increasing mortality caused by contralateral breast cancer in the mutated patient is 1.7%, in 10 years, and 6.8%, in 20 years. Objectives: To analyze the cases of risk-reducing mastectomy in patients with BRCA mutation. Method: This is a retrospective study. We included all patients who had positive BRCA mutation test, assisted from 1999 to 2019. The study was approved by the Research Ethics Committee of Universidade Federal do Piauí, report n. 2.817.502. Results: We studied 23 patients who had a mutation in the BRCA gene, being 15 (65.2%) in BRCA 1, and 8 (34.8%) in BRCA 2. All participants were female, with mean age of 46 years, and mean of three cases of cancer in the family. Seven (30.4%) risk-reducing bilateral or contralateral mastectomy procedures were performed. The mean age at the performance of surgery was 38 years. There were six cases of previous breast carcinoma in one of the breasts, and one patient who had not been diagnosed with breast cancer. All of them were submitted to immediate reconstruction with inclusion of a silicone prosthesis. Laparoscopic bilateral salpingo-oophorectomy was performed in three patients. The histological type in the six patients with cancer was invasive carcinoma of no special type, being four triple negatives. Neoadjuvant chemotherapy was performed in four cases; in 6 cases, the mutation was in BRCA1. All patients remain without complains and free of disease, with mean follow-up of 29.5 months. Twelve (52.1%) patients are being followed-up with mammography, resonance and annual clinical examination, and did not accept risk-reducing mastectomy or salpingo-oophorectomy. Conclusions: Risk-reducing mastectomy was performed in 30.4% of the patients with deleterious mutation of BRCA. The main mutation was BRCA, and in 85.7% of the cases, the patient presented with previous breast cancer in one of the breasts.