Clinical Case : Breast Cancer Associated with Early Pregnancy and Screening for BRCA 1 & 2 Mutations at the Panzi-Bukavu/Uea Hospital
Authors: Bigabwa Patrick  , Nyakio Olivier  , Chentwali Serge  , Bisimwa Patron  , Mulinganya Guy  , Mukanire Bercmans  , Chasinga  , Musafiri Justin  , Mukanga Omar  
Published: June 2023

Introduction: Breast Cancer Associated with Pregnancy( "BCAP" ) is one of the rare entities of breast tumor pathologies in senology. According to the literature, it has a low frequency. But it is characterized by a clinical picture often very severe.
The objective of this article is to illustrate the particularities of this type of cancer by the clinical cases diagnosed in 2022. In addition, to discuss and analyze the epidemio-clinical, histological, therapeutic aspects and short-term prognosis; consented genetic testing was initiated and justified by young age (less than 32 years).
Patients and methods: This is a 12-month cross-sectional study, for analytical purposes with prospective collection, conducted at the Department of Gynaecology and Anatomopathology of Panzi/UEA Hospital in 2022.
Two patients collected, after clinical examination, met the criteria for selecting BCAP definitions according to the "Journal of Gynaecological-Obstetrics" (36) [6]. Then, their biopsy and blood samples allowed histo-genetic diagnosis at the anatomopathology and molecular biology laboratories of the UEA with counter-expertise in Netherland-Amsterdam.
Results: Over a period of twelve months and in a sample of 28 patients with breast cancer, there were 2 cases of BCAP, or 7% incidence. The patients were Bukavu residents from South Kivu, married, under 32 years of age and all with higher education. They consulted late; more than a year, after discovery of breast nodules by self-palpation. All have re-acknowledged having undergone exposure to potential ionizing irradiation.
Risk factors were analyzed. For patient (A): menarche at 17 years, ages of marriage and 1st pregnancy at 31 years, primiparity, no breastfeeding, history of breast tumors and local treatment with indigenous products. For (B), obesity, shortened breastfeeding and taking hormonal con-traceptions were noted.
The clinic noted in common, advanced cancer, large adherent mass; but, for the patient (A) were associated cachexia, infectious syndrome, anemia and fetal distress ended by fetal death in utero. Anatomical pathology has found a common type "advanced invasive ductal carcinoma"; grade SBR III for (A) and SBR I for (B). The extension assessment noted more peculiarities for (A) with hyperleukocytosis, low hemoglobin, radiopulmonary images in favor of metastases.
Genetic testing, looking for BRCA 1&2 mutations, suspected the BRCA1 mutation for both patients, after PCR by presence of amplification of primers 185 and 187 at the UEA/HGRPanzi laboratory. However, sequencing done at the MACROGEN - Netherland laboratory, confirmed the presence of mutations at exon 2 of the objectified BRCA1 gene in the patient (B). Due to lack of resources, genetic analysis of other exons of the BRCA1 and BRCA2 genes has not been performed to exclude associated muta-tions.
Conclusion: BCAP, being classically rare, had a very high frequency (7%) in our series. It has affected patients of young age (less than 32 years), diagnosed with late-stage invasive ductal carcinoma with at least 50 percent genetic factor positivity (BRCA 1 mutation). These elements suggest the prospect of undertaking a large-scale study to investigate the most common breast cancer risk factors in Bukavu.