scholarly journals Synchronous Ovarian and Breast Cancers with a Novel Variant in BRCA2 Gene: A Case Report

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Néstor Llinás-Quintero ◽  
Eduardo Cabrera-Florez ◽  
Gustavo Mendoza-Fandiño ◽  
Gustavo Matute-Turizo ◽  
Elsa M. Vasquez-Trespalacios ◽  
...  

We report a case of a 52-year-old female with a family history of pancreatic and colon cancers who presented with a right breast mass positive for high-grade medullar carcinoma with triple-negative biomolecular profile. Further workup was performed finding a left ovarian mass. The patient underwent laparotomy performing optimal cytoreduction on bilateral ovarian tumors; the pathology and immunohistochemistry confirmed bilateral ovary adenocarcinoma with positive peritoneal malignancy. Due to her synchronic breast and ovarian cancers, a genetic profile was performed detecting a new pathogenic variant in the BRCA2 gene: c.3606_3607del (p.Ser1203Cysfs). She was given chemotherapy with carboplatin and paclitaxel obtaining complete clinical response. Regarding her breast cancer, she had a right modified radical mastectomy and prophylactic left mastectomy obtaining complete clinical response. This case presents with an unusual subtype and difficult histologic diagnosis of a synchronic medullar breast cancer and ovary carcinoma associated with a new mutation of the BRCA2 gene.

2014 ◽  
Vol 8 ◽  
pp. BCBCR.S13727 ◽  
Author(s):  
Michael J. Toole ◽  
Kelley M. Kidwell ◽  
Catherine Van Poznak

Purpose To determine whether multiple primary breast cancers have similar genetic profiles, specifically Oncotype Dx Recurrence Scores, and whether obtaining Oncotype Dx on each primary breast cancer affects chemotherapy recommendations. Methods A database of patients with hormone receptor-positive, lymph node-negative, breast cancer was created for those tumors that were sent for Oncotype Dx testing from the University of Michigan Health System from 1/24/2005 to 2/25/2013. Retrospective chart review abstracted details of tumor location, histopathology, distance between tumors, Oncotype Dx results, and chemotherapy recommendations. Results Six hundred and sixty-six patients for whom Oncotype Dx testing was sent were identified, with 22 patients having multiple breast tumor specimens sent. Of the 22 patients who had multiple samples sent for analysis, chemotherapy recommendations were changed in 6 of 22 patients (27%) based on significant differences in Oncotype Dx Recurrence Scores. Qualitatively, there seems to be a greater difference in genetic profile in tumors appearing simultaneously on different breasts when compared to multiple tumors on the same breast. There was no association between distance between tumors and difference in Oncotype Dx scores for tumors on the same breast. Conclusions Oncotype Dx testing on multiple primary breast cancers altered management in regards to chemotherapy recommendations and should be considered for multiple primary breast cancers.


2020 ◽  
pp. 000313482095633
Author(s):  
Christopher W. Mangieri ◽  
Julia Ruffo ◽  
Akiko Chiba ◽  
Marissa Howard-McNatt

Advances in breast cancer research have made breast cancer a treatable disease. However, there is a population of women who present with large, advanced, or sometimes neglected breast cancers who can prove difficult to treat. These women often require multiple modality treatment including chemotherapy, surgery, and radiation. The purpose of our study is to examine the treatment and outcomes on women with large, locally advanced breast cancers (LABCs). We identified 8 individuals who presented with LABCs requiring extensive treatment. Patients with inflammatory or metastatic cancer at the time of presentation were excluded. These patients’ charts were reviewed and analyzed. Patient demographics, hormone receptor status, stage, types of treatment, presence of metastasis, survival, and presence of barriers for seeking treatment sooner were identified. The median age at presentation was 65 years old. The patients were equally African American and Caucasian. All patients presented with T4 or stage 3 tumors involving the skin and/or pectoralis muscle. Half of the patients were found to have triple-negative (estrogen receptor, progesterone receptor, Her-2/neu negative) tumors. 87% of the patients received chemotherapy; 1 refused. All 8 patients, either neoadjuvantly or adjuvantly, underwent a modified radical or radical mastectomy. Skin graft or flap coverage was necessary in half of the patients. Postmastectomy radiation was received in 87% of the patients; 1 patient refused the treatment. Half of the patients developed metastatic disease. Thirty-seven percent of the patients have since died with a median survival of 44 months. Reasons for delay in seeking care were monetary or social barriers. Many of the patients finally sought care via the emergency room due to symptoms they could no longer ignore. Women who present with LABC require complex multidisciplinary treatment consisting of chemotherapy, surgery, and radiation treatments. Many of these patients faced economic and social challenges to accessing care. Better access to care and more prompt connection to breast surgeons are required to assist this patient population.


1991 ◽  
Vol 77 (6) ◽  
pp. 468-471 ◽  
Author(s):  
Enrico Gallo ◽  
Emanuele Galante ◽  
Gabriele Martelli ◽  
Marco Stanzani ◽  
Grazia Landi ◽  
...  

The aim of the study was to ascertain the reliability of a Doppler signal in the diagnosis of breast cancer. Computerized blood flow analysis was performed on 117 patients who presented with a breast lump at the Division of Diagnostic Oncology of the Istituto Nazionale Tumori of Milan. The values of systolic peak and diastolic frequency were evaluated in relation to the histologic diagnosis. Ten patients had a spontaneous regression of the lump and were excluded from the study. The number of evaluable cases with histologic confirmation was 107: 69 carcinomas and 38 benign lesions. Systolic peak values for the 69 carcinomas ranged from 1500 to 7400 Hz, with a mean value of 3243.4 Hz; diastolic frequency ranged from 200 to 3700 Hz, with mean value of 1413.9 Hz. No diagnostic signals were found in 4 breast cancers (false negatives). Twenty-three of 38 benign lesions (60.5 %) and 65 of 69 malignant nodes (94.2 %) were correctly diagnosed. The Doppler signal with computerized spectral analysis in addition to more specific ultrasonographic parameters could be considered a useful tool in the diagnosis of breast cancer.


2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Adamu Ahmed ◽  
Yahaya Ukwenya ◽  
Adamu Abdullahi ◽  
Iliyasu Muhammad

Male breast cancer is an uncommon disease accounting for only 1% of all breast cancers. We present the evaluation, treatment and outcome of male patients seen with breast cancer in our institution. Male patients that had histological diagnosis of breast cancer from 2001 to 2010 were retrospectively evaluated. After evaluation patients were treated with modified radical mastectomy. Combination chemotherapy was given to patients with positive axillary lymph nodes. Radiotherapy and hormonal therapy were also employed. There were 57 male patients with breast cancer which accounted for 9% of all breast cancers seen during the study period. Their mean age was 59 ± 2.3 years. The mean tumor diameter was 13 ± 2.5 cm. Fifty three (93%) patients presented with advanced disease including 15 with distant metastasis. Four patients with stage II disease were treated with modified radical mastectomy, chemotherapy and tamoxifen. Of the 30 patients with sage III disease that had modified radical mastectomy, complete axillary clearance and tumor free margins were achieved in 25. Overall 21 (36.8%) patients were tumor free at one year. Overall 5-year survival was 22.8%. In conclusion, male patients with breast cancer present with advanced disease which is associated with poor outcome of treatment.


2013 ◽  
Vol 02 (03) ◽  
pp. 56-59
Author(s):  
Grazia Artioli ◽  
Giuseppe Azzarello ◽  
Fabrizio Meggiolaro ◽  
Jacopo Wabersich ◽  
Lucia Borgato ◽  
...  

1981 ◽  
Vol 67 (5) ◽  
pp. 443-445 ◽  
Author(s):  
Mario Cappellini ◽  
Stefano Ciatto ◽  
Raffaello Mungai

The role of postoperative radiotherapy in N- breast cancer with centrally or medially located tumors is still controversial. The authors report the results of a retrospective non-randomized case-control study of T1–2 N- breast cancer patients with centrally or medially located tumors, treated or not with postoperative radiotherapy after radical mastectomy. Sixty-four patients were treated with postoperative radiotherapy (Co-60) to the internal mammary chain and supraclavicular nodes. Sixty-four control cases, matched by T size and site, N status, age and menstrual status and simply followed-up after radical mastectomy were selected. No significant differences in actuarial recurrence and NED survival rates were observed at 5 years in the 2 compared groups, thus indicating that postoperative radiotherapy for patients with N- centrally or medially located breast cancers is not worthwhile treatment policy.


2009 ◽  
Vol 27 (24) ◽  
pp. 3894-3900 ◽  
Author(s):  
Patrice Watson ◽  
Rita Lieberman ◽  
Carrie Snyder ◽  
Vanessa J. Clark ◽  
Henry T. Lynch ◽  
...  

Purpose Mutations in the BRCA2 gene are dominantly inherited but cause cancers when the wild-type allele has loss of heterozygosity (LOH) within the cancer. Because most disease-associated BRCA2 mutations are protein-truncating mutations, a test for truncated BRCA2 proteins should identify most BRCA2 hereditary cancers. Methods We have developed a tissue truncation test to identify truncated BRCA2 proteins in breast cancer tissue biopsies in vivo that does not use amplification or genetic manipulations. N-terminal and C-terminal antibodies are used to visualize protein truncation by demonstrating that the beginning of the protein is present but the end (ie, terminus) is absent. Results A quantitative C-terminal immunostaining score or a C-terminal to N-terminal truncation ratio correctly classified 20 of 21 breast cancers arising in BRCA2 mutation carriers and 57 of 58 cancers arising outside the context of a multiple-case breast cancer family. This represents a sensitivity of 95% and a specificity of 98%. Because of the presence of C-terminal BRCA2 protein and atypical clinical features of the misclassified cancer in a BRCA2 mutation carrier, we performed polymerase chain reaction and sequence analyses on this cancer. The results showed continued presence of the BRCA2 wild-type allele in the cancer, which indicated that intact BRCA2 protein was present in this cancer. Conclusion This immunohistochemistry-based test (which takes only 4 hours) appears to identify BRCA2 hereditary cancer with high accuracy. The test also appears to diagnose the biochemical loss of BRCA2 protein in cancers (ie, BRCA2-mutant genotype), which will usually but not always agree with the presence of a germline BRCA2 mutation found by susceptibility testing by DNA sequencing of blood samples.


2011 ◽  
Vol 79 (5) ◽  
pp. 1452-1459 ◽  
Author(s):  
Caroline Daveau ◽  
Alexia Savignoni ◽  
Soumya Abrous-Anane ◽  
Jean-Yves Pierga ◽  
Fabien Reyal ◽  
...  

2019 ◽  
Vol 5 (1) ◽  
pp. 126-134
Author(s):  
Babatunde Adeteru Ayoade ◽  
Babatunde Abayomi Salami ◽  
Kolawole Sunday Oritogun ◽  
Omotola Toyin Ojo ◽  
Henry Okuchukwu Ebili ◽  
...  

Background: Breast cancer is the most common female malignancy in Nigeria. Neoadjuvant chemotherapy is the first line treatment for locally advanced breast cancer. The advancement of many cancers is accompanied by inflammation, and inflammatory cells play an essential role in the progression. Objective: To determine if haematological parameters can predict the responsiveness of breast cancer to neoadjuvant chemotherapy regime. Method: A prospective cohort study of all breast cancer patients who had neoadjuvant chemotherapy between July 2017 and December 2018 was carried out. Haematological parameters of red cell count (RCC), white cell count(WCC), neutrophil count (NC), lymphocyte count (LC), platelet count (PC), red cell distribution width (RCDW), mean platelet volume (MPV), neutrophil-lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR) were measured. Response to chemotherapy was assessed by measuring the longest diameter of the lump and largest lymph node and applying the UICC criteria. Results: Thirty-five females with breast cancer with the age range of 33-82 years and mean age of 48 ± 11 years were studied. The overall clinical response rate was 80% consisting of 40% complete clinical response, 40% partial clinical response, 8.6% stable disease and 11.4% progressive disease. Eleven (78.6%) with PLR values below average had good clinical response while 21.4% of those with PLR value above average had a good clinical response (χ2 = 8.4, p = 0.006) Conclusion:  The study showed that PLR is associated with complete clinical response to neoadjuvant chemotherapy and should be used as part of routine assessment before chemotherapy.


Sign in / Sign up

Export Citation Format

Share Document