Prevalence of germline TP53 p.R337H mutation in Brazilian young breast cancer patients.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e13101-e13101
Author(s):  
Fernanda Paschoal Fortes ◽  
Renata Tonhosolo ◽  
Rima Jbili ◽  
Karina Miranda Santiago ◽  
Kelvin Andrade ◽  
...  

e13101 Background: Germline TP53 mutations are associated with Li-Fraumeni syndrome (LFS), a disease that predisposes carriers to a wide variety of early onset tumors. Pre-menopausal breast cancer is the most frequent tumor found in carriers. In Southern and Southeastern Brazil, a germline TP53 mutation in exon 10, p.R337H, was diagnosed in 0,3% of the population due to a founder effect, a prevalence that is substantially higher than other LFS mutations. Methods: In this study we investigated the prevalence of the p.R337H TP53 germline mutation in 287 young female breast cancer patients (diagnosed before the age of 40) at A. C. Camargo Cancer Center, Sao Paulo, Brazil. DNA was extracted from saliva and Sanger sequencing of exon 10 was performed. All patients were consented. Results: The p.R337H TP53 mutation was present in 1.74% (5/287). Family history of cancer was present in three cases although it did not fulfill LFS clinical criteria. Conclusions: The identification of germline p.R337H mutation in this cohort strengthen the role of TP53 mutations in the early onset of breast cancer in pre-menopausal cancer in Brazil.

2020 ◽  
Vol 19 ◽  
pp. 153473542098391
Author(s):  
Chieh-Ying Chin ◽  
Yung-Hsiang Chen ◽  
Shin-Chung Wu ◽  
Chien-Ting Liu ◽  
Yun-Fang Lee ◽  
...  

Background Complementary and alternative medicine (CAM) is becoming more common in medical practice, but little is known about the concurrent use of CAM and conventional treatment. Therefore, the aim was to investigate the types of CAM used and their prevalence in a regional patient cohort with breast cancer (BC). Methods BC patients were interviewed with a structured questionnaire survey on the use of CAM in southern Taiwan at an Integrative Breast Cancer Center (IBCC). The National Centre for Complementary and Integrative Health (NCCIH) classification was used to group responses. Over a period of 8 months, all patients receiving treatment for cancer at the IBCC were approached. Results A total of 106 BC patients completed the survey (response rate: 79.7%). The prevalence of CAM use was 82.4%. Patients who were employed, were receiving radiotherapy and hormone therapy, and had cancer for a longer duration were more likely to use CAM ( P < .05). Multivariate analysis identified employment as an independent predictor of CAM use (OR = 6.92; 95% CI = 1.33-36.15). Dietary supplementation (n = 69, 82.1%) was the type of CAM most frequently used, followed by exercise (n = 48, 57.1%) and traditional Chinese medicine (n = 29, 34.5%). The main reason for using CAM was to ameliorate the side effects of conventional therapies. Almost half (46.4%) of these CAM users did not disclose that they were using it in medical consultations with their physicians. Most chose to use CAM due to recommendations from family and friends. Conclusion A large portion of BC patients at the IBCC undergoing anti-cancer treatment courses used CAM, but less than half discussed it with their physicians. Given the high prevalence of CAM, it would be justifiable to direct further resources toward this service so that cancer patients can benefit from a holistic approach to their treatment.


Author(s):  
Muhammad Usman Rashid ◽  
Noor Muhammad ◽  
Faiz Ali Khan ◽  
Umara Shehzad ◽  
Humaira Naeemi ◽  
...  

Abstract Background The RecQ Like Helicase (RECQL) gene has previously been shown to predispose to breast cancer mainly in European populations, in particular to estrogen receptor (ER) and/or progesterone receptor (PR) positive tumor. Here, we investigated the contribution of pathogenic RECQL germline variants to hereditary breast cancer in early-onset and familial breast cancer patients from Pakistan. Methods Comprehensive RECQL variant analysis was performed in 302 BRCA1 and BRCA2 negative patients with ER and/or PR positive breast tumors using denaturing high-performance liquid chromatography followed by DNA sequencing. Novel variants were classified using Sherloc guidelines. Results One novel pathogenic protein-truncating variant (p.W75*) was identified in a 37-year-old familial breast cancer patient. The pathogenic variant frequencies were 0.3% (1/302) in early-onset and familial breast cancer patients and 0.8% (1/133) in familial patients. Further, three novel variants of unknown significance, p.I141F, p.S182S, and p.C475C, were identified in familial breast cancer patients at the age of 47, 68, and 47 respectively. All variants were absent in 250 controls. Conclusions Our data suggest that the RECQL gene plays a negligible role in breast cancer predisposition in Pakistan.


2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e18687-e18687
Author(s):  
Maya Leiva ◽  
Angela Pennisi ◽  
Kathleen Kiernan Harnden ◽  
Patricia Conrad Rizzo ◽  
Lauren Ann Mauro

e18687 Background: The long-acting injectable G-CSF, pegfilgrastim and its biosimilars have historically been given to patients 24 hours following the administration of myelosuppressive chemotherapy for either primary or secondary prophylaxis of febrile neutropenia (FN). Previous literature has indicated that pegfilgrastim administration prior to 24 hours post chemotherapy, may result in a deepened and prolonged neutropenia due to the increase in circulating granulocytes exposed to chemotherapy. With the onset of the COVID-19 pandemic and to reduce potential SAR-CoV-2 exposure to cancer patients on therapy, we implemented same day administration of injectable pegfilgrastim-cbqv among select breast cancer patients receiving myelosuppressive chemotherapy regimens from March 2020 – February 2021. Methods: Utilizing retrospective EHR chart reviews, 55 patients among 4 medical oncologists in our breast cancer group were identified as meeting the criteria of same day pegfilgrastim-cbqv administration. Inclusion was based on completion of at least 2 consecutive cycles of same day pegfilgrastim-cbqv 6 mg subcutaneous injection for primary or secondary prophylaxis. The selected patient charts were reviewed for the incidence and severity of FN. Among the patients who had documented FN, further subgroup analyses were done regarding baseline characteristics, timing of neutropenia, regimens, regimen sequence, and reported ADRs associated with pegfilgrastim-cbqv. Results: 9 (16.4%) of the 55 patients experienced FN (Grades 3-4) and 6 (10.9%) patients were hospitalized. There were no Grade 5 events and none had therapy discontinued due to FN. 8 (88.9%) of the patients experienced FN between cycles 1 and 2. Of note, there were no cases of COVID-19 among the 9 patients who had an episode of FN. 52 (94.5%) of the 55 patients received treatment with curative intent and 3 (5.5%) had metastatic disease on a subsequent line of therapy. The median age was 49.1 years (range 29-71) and patients were 56.4% Caucasian, 18.1% Black or African American, 12.7% Asian, and 12.7% Hispanic/Latina. Conclusions: Based on the retrospective data analysis, same day pegfilgrastim-cbqv appears to be a safe and effective option in the primary and secondary prophylaxis of FN with myelosuppressive standard of care chemotherapy used in breast cancer treatment. Though our review was limited by a relatively small sample size and confined to younger (49.1 median age) breast cancer patients, this opens the door to further re-evaluation of same day pegfilgrastim-cbqv administration in other patient populations. In a post pandemic treatment world, this slight change in practice has the potential to reduce patient financial toxicity associated with multiple medical visits, provide an alternative to on-body injector formulations, and ensure treatment adherence.


2018 ◽  
Vol 9 (3) ◽  
pp. 374-380 ◽  
Author(s):  
Bhagwan M. Nene ◽  
Farida Selmouni ◽  
Manoj Lokhande ◽  
Sanjay J. Hingmire ◽  
Richard Muwonge ◽  
...  

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e18682-e18682
Author(s):  
Anannya Patwari ◽  
Vineel Bhatlapenumarthi ◽  
Courtnery Brann ◽  
Jackson Waldrip ◽  
Victoria Caruso ◽  
...  

e18682 Background: Reducing ED visits in patients with cancer is cost saving and is particularly relevant during the COVID pandemic. Methods: We analyzed the number of ED visits occurred in our breast cancer population between July 1 2019 and August 31 2020 including demographics, stage distribution, treatment type within the month of ED visit, reason, time of the day, day of the week the visit occurred. Results: A total of 101 patients had 162 visits. 38 (38%) had more than 1 ED visit. Majority (36%) had stage 4 disease at the time of ED visit. The top 5 reasons for ED visits were fall and injury (N=30), GI (N=24), cardiac (N=17), respiratory symptoms (N=14) and cancer related pain (N=11). The median age in patients with ED visit due to fall injury/pain was 75 and non-fall injury/pain was 55 years. The most common reasons for chemotherapy induced ED visits were GI related (N=8) and Neutropenic fever (N=7). Cyclophosphamide/doxorubicin was the common regimen associated with neutropenic fever. A total of 72 (44%) visits resulted in hospital admissions. Most common symptom categories requiring hospital admissions were cardiac (82.3%), sepsis/cellulitis (81.8%), respiratory (64%), cancer related pain (54.5%) and GI (50%). Most were on endocrine therapy at the time of their visit (N= 59) and 31 were on no treatment at all. Falls were unrelated to disease or treatment and occurred in patients above age 70. Visits occurred during working hours from 6AM to 5PM, with peak incidence on Mondays and Fridays. Conclusions: Reducing ED visit in cancer patients is a worthwhile endeavor particularly in the context of the COVID pandemic. The main reason for ED visits were falls and injuries that were unrelated to disease or treatment in breast cancer patients. As a result, we are implementing systematic physical therapy assessment for our breast cancer population over age of 60 at our cancer center and call us first campaign, to get an opportunity to intervene prior to going to the ED as majority of the ED visits occurred during working hours.[Table: see text]


2020 ◽  
Vol 190 (8) ◽  
pp. 1643-1656
Author(s):  
Ayla Koçak ◽  
Kerstin Heselmeyer-Haddad ◽  
Annette Lischka ◽  
Daniela Hirsch ◽  
David Fiedler ◽  
...  

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