Breast disease最新文献_第4页

Lectins as a promising therapeutic agent for breast cancer: A review. 作为乳腺癌治疗剂前景看好的凝集素：综述。

Breast disease Pub Date : 2024-01-01 DOI: 10.3233/BD-230047

Keerti Singh, Lokita Agrawal, Rhea Gupta, Divyam Singh, Meghavi Kathpalia, Navkiran Kaur

{"title":"Lectins as a promising therapeutic agent for breast cancer: A review.","authors":"Keerti Singh, Lokita Agrawal, Rhea Gupta, Divyam Singh, Meghavi Kathpalia, Navkiran Kaur","doi":"10.3233/BD-230047","DOIUrl":"10.3233/BD-230047","url":null,"abstract":"Efficient treatment of cancer has been a subject of research by scientists for many years. Current treatments for cancer, such as radiotherapy, chemotherapy and surgery have been used in traditional combination therapy, but they have major setbacks like non-specificity, non-responsiveness in certain cancer types towards treatment, tumor recurrence, etc. Epidemiological data has shown that breast cancer accounts for 14% of cancer cases occurring in Indian women. In recent years, scientists have started to focus on the use of natural compounds like lectins obtained from various sources to counter the side effects of traditional therapy. Lectins like Sambucus nigra Agglutinin, Maackia amurensis lectin, Okra lectins, Haliclona caerulea lectin, Sclerotium rolfsii lectin, etc., have been discovered to have both diagnostic and therapeutic potential for breast cancer patients. Lectins have been found to have inhibitory effects on various cancer cell activities such as neo-angiogenesis, causing cell cycle arrest at the G1 phase, and inducing apoptosis. The major idea behind the use of lectins in cancer diagnostics and therapeutics is their capability to bind to glycosylated proteins that are expressed on the cell surface. This review focuses on an exploration of the roles of post-translational modification in cancer cells, especially glycosylation, and the potential of lectins in cancer diagnosis and therapeutics.","PeriodicalId":9224,"journal":{"name":"Breast disease","volume":"43 1","pages":"193-211"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11307042/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141436392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Development of neuro-Behcet's disease in a patient with operable HER2-positive breast cancer during neoadjuvant chemotherapy: A case report. 一名可手术的 HER2 阳性乳腺癌患者在新辅助化疗期间出现神经性贝赫切特病：病例报告。

Breast disease Pub Date : 2024-01-01 DOI: 10.3233/BD-230026

Taketo Nakai, Hirohito Seki, Akitsugu Makino, Yoshie Kadota, Takuji Kaburagi, Takehiro Okumura, Tsuyoshi Karahashi

{"title":"Development of neuro-Behcet's disease in a patient with operable HER2-positive breast cancer during neoadjuvant chemotherapy: A case report.","authors":"Taketo Nakai, Hirohito Seki, Akitsugu Makino, Yoshie Kadota, Takuji Kaburagi, Takehiro Okumura, Tsuyoshi Karahashi","doi":"10.3233/BD-230026","DOIUrl":"10.3233/BD-230026","url":null,"abstract":"Background: Neuro-Behcet's disease (NBD) is a variant of Behcet's disease (BD). To our knowledge, there have been no previous reports on concurrent NBD in breast cancer patients undergoing chemotherapy.Case presentation: Our patient had a history of BD and was asymptomatic. She was diagnosed with human epidermal growth factor receptor 2-positive breast cancer by core needle biopsy and was administered neoadjuvant chemotherapy. After four courses, in addition to the aggravation of the existing adverse events, headache, fever, dysarthria, and muscle weakness in the upper left and lower extremities appeared. On admission, she was diagnosed with acute NBD, and steroid therapy was initiated. After her symptoms improved gradually, she was discharged. Then, she underwent mastectomy and axillary lymph node dissection for breast cancer. Trastuzumab and pertuzumab plus tamoxifen were administered postoperatively. Two years postoperatively, no recurrence of breast cancer and NBD was noted.Conclusion: When chemotherapy is administered to breast cancer patients with a history of BD, it is necessary to select chemotherapy with as few adverse events as possible and to continue with treatment while paying attention to the risk of NBD.","PeriodicalId":9224,"journal":{"name":"Breast disease","volume":"43 1","pages":"223-229"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11307018/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141537627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genomic signatures in breast cancer in a real-world setting: Experience in a Brazilian Northeastern Center. 现实世界中乳腺癌的基因组特征：巴西东北部中心的经验。

Breast disease Pub Date : 2024-01-01 DOI: 10.3233/BD-230044

Sabas Carlos Vieira, Cristiane Amaral Dos Reis, Mariana Elvas Feitosa Holanda, Danilo Rafael da Silva Fontinele, Alessandro Igor Cavalcanti Leal, Fernanda Teresa de Lima

{"title":"Genomic signatures in breast cancer in a real-world setting: Experience in a Brazilian Northeastern Center.","authors":"Sabas Carlos Vieira, Cristiane Amaral Dos Reis, Mariana Elvas Feitosa Holanda, Danilo Rafael da Silva Fontinele, Alessandro Igor Cavalcanti Leal, Fernanda Teresa de Lima","doi":"10.3233/BD-230044","DOIUrl":"10.3233/BD-230044","url":null,"abstract":"Objective: We aim to evaluate the indication and use of genomic signatures in breast cancer patients and outcomes who in patients undergoing adjuvant chemotherapy or not.Methods: This is a retrospective study of breast cancer patients managed in a private oncology clinic in Teresina, from November 2014 to February 2021. All patients with an indication of genomic signature were included. Clinical and pathological variables, use of genomic signatures, treatment and follow-up were obtained. The nomogram to predict Oncotype DX results (University of Tennessee Medical Center) was also calculated. Clinical risk calculation was based on MINDACT, using the modified version of Adjuvant Online. The genetic signatures performed were: the Oncotype, MammaPrint and EndoPredict.Results: Fifty (50) female patients were included in the study. The mean age of the participants was 57.1 years. Among the patients receiving a genomic signature (26-52.0%), there was a change in treatment in 8 (30.7%) cases. Chemotherapy was indicated in four patients, It was contraindicated in another four patients. Treatment changed in 30.7% of the tested patients. Chemotherapy was indicated for those who would not receive it before. It was contraindicated in patients who would previously undergo chemotherapy.","PeriodicalId":9224,"journal":{"name":"Breast disease","volume":"43 1","pages":"237-242"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11307088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141598439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Expression and promoter methylation of mitogen-activated protein kinase 1 in tumor and marginal cells of breast cancer 乳腺癌肿瘤细胞和边缘细胞中丝裂原活化蛋白激酶 1 的表达和启动子甲基化情况

Breast disease Pub Date : 2023-12-22 DOI: 10.3233/bd-230001

Solmaz Goldoost, H. Zarredar, M. Asadi, Milad Shirvaliloo, M. Raeisi

{"title":"Expression and promoter methylation of mitogen-activated protein kinase 1 in tumor and marginal cells of breast cancer","authors":"Solmaz Goldoost, H. Zarredar, M. Asadi, Milad Shirvaliloo, M. Raeisi","doi":"10.3233/bd-230001","DOIUrl":"https://doi.org/10.3233/bd-230001","url":null,"abstract":"AIM: In the present study, we sought to explore potential differences in the expression and promoter methylation of mitogen-activated protein kinase 1 (MAPK1) between tumor and marginal cells of breast cancer lesions. METHODS: A total of 50 randomly selected patients with breast cancer (BCa) undergoing needle biopsy were enrolled. Clinical specimens containing both tumor and marginal cells were collected and preserved. After DNA extraction using specific primers, MAPK1 mRNA and promoter methylation were measured with spectrophotometry at 260/280 nm absorption wavelengths. To deliver a comparative analysis, data from The Cancer Genome Atlas (TCGA) program regarding breast cancer (BRCA), were downloaded from Xena Functional Genomics Explorer and separately analyzed. The suitability of MAPK1 expression and promoter methylation as biomarkers for BCa was analyzed with receiver operating characteristic (ROC) curves. RESULTS: We found a positive correlation between tumor stage and MAPK1 expression (P-value: 0.029) in BCa. Likewise, MAPK1 expression was significantly associated with lymph node metastasis (P-value: 0.018). There was a significant difference in the expression of MAPK1 mRNA between tumor and marginal cells of BCa and BRCA (P-value < 0.001). However, we did not find any statistically significant difference in MAPK1 promoter methylation between tumor and marginal cells of both BCa and BRCA. With an area under the curve (AUC) of 0.71, the diagnostic accuracy of MAPK1 expression in BCa and BRCA was validated. However, MAPK1 promoter methylation was not found to be a suitable biomarker. CONCLUSION: Our findings suggest that while MAPK1 expression, might be a promising biomarker for evaluating oncogenic activity in patients suspected of BCa. We were not able to detect a prognostic/diagnostic role for MAPK1 promoter methylation.","PeriodicalId":9224,"journal":{"name":"Breast disease","volume":"4 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138944204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Course of objectively measured physical activity and sleep in postmenopausal breast cancer survivors during the COVID-19 pandemic: A 1-year follow-up COVID-19 大流行期间绝经后乳腺癌幸存者客观测量的体力活动和睡眠情况：为期一年的随访

Breast disease Pub Date : 2023-12-20 DOI: 10.3233/bd-230049

Sandra J M van Cappellen-van Maldegem, M. Hoedjes, Michiel R. de Boer, Inge Nijman, Henrike M.W. van Valenberg, Jacob C. Seidell, L. V. van de Poll-Franse, L. Buffart, F. Mols, B. D. de Rooij

{"title":"Course of objectively measured physical activity and sleep in postmenopausal breast cancer survivors during the COVID-19 pandemic: A 1-year follow-up","authors":"Sandra J M van Cappellen-van Maldegem, M. Hoedjes, Michiel R. de Boer, Inge Nijman, Henrike M.W. van Valenberg, Jacob C. Seidell, L. V. van de Poll-Franse, L. Buffart, F. Mols, B. D. de Rooij","doi":"10.3233/bd-230049","DOIUrl":"https://doi.org/10.3233/bd-230049","url":null,"abstract":"BACKGROUND: As physical inactivity and poor sleep quality may impose additional risk for cancer recurrence and overall mortality in postmenopausal breast cancer (PMBC) survivors, it is important to gain insight into the effect of the COVID-19 pandemic on their physical activity (PA) and sleep level. OBJECTIVE: This study aimed to assess the course of their physical activity (PA) and sleep throughout governmental measures against COVID-19 during 12 months of the COVID-19 pandemic. METHODS: PMBC survivors (n = 96) wore an ActiGraph wGT3X-BT for seven consecutive days at 12 and 18 months after diagnosis and additional measurements were taken after onset of the second (partial) COVID-19 lockdown. Longitudinal data was categorized into four timepoints: before onset of COVID-19 (T1), during the initial lockdown (T2), in between initial and second lockdown (T3), and during the second lockdown (T4). General linear mixed effects models assessed differences in moderate-to-vigorous physical activity (MVPA) per day, total minutes of PA per day, average acceleration, intensity gradient, sleep efficiency, and sleep duration over time. RESULTS: Levels of MVPA per day before COVID-19 were low (Median = 20.9 min/day (IQR = 10.8;36.2)), and time spent physically active was most often in light intensity, which remained stable throughout the pandemic. Sleep duration (Median = 442.8 min/night (IQR = 418.3;478.0)) and efficiency (85.9% (IQR = 79.6;88.4)) was sufficient before COVID-19 and showed stability over time. CONCLUSIONS: Low levels of PA with mostly light intensity, and adequate sleep efficiency and duration were observed before COVID in PMBC survivors. This was not further affected by COVID-19 governmental measures.","PeriodicalId":9224,"journal":{"name":"Breast disease","volume":"120 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138953766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Conventional standard-sized bra with prosthesis or patient’s bra with customized hand-knitted external prosthesis after mastectomy: Mixed-methods evaluation of patients’ preferences 乳房切除术后使用带假体的传统标准尺寸胸罩还是带定制手工编织外部假体的患者胸罩：对患者偏好的混合方法评估

Breast disease Pub Date : 2023-12-08 DOI: 10.3233/bd-230040

R. P. Ng, John C. Allen, Yen-Yen Chia, Geok Hoon Lim

{"title":"Conventional standard-sized bra with prosthesis or patient’s bra with customized hand-knitted external prosthesis after mastectomy: Mixed-methods evaluation of patients’ preferences","authors":"R. P. Ng, John C. Allen, Yen-Yen Chia, Geok Hoon Lim","doi":"10.3233/bd-230040","DOIUrl":"https://doi.org/10.3233/bd-230040","url":null,"abstract":"INTRODUCTION: In breast cancer patients undergoing mastectomy without reconstruction, an external breast prosthesis could aid patients’ recovery, improve body image and confidence by helping to regain a symmetrical chest appearance when dressed. However, external breast prosthesis preferences among Asian breast cancer patients were not widely studied. We aimed to compare patients’ experience with the conventional commercially manufactured standard-sized (small, medium, large, extra-large) bra and prosthesis versus customized hand-knitted external breast prosthesis with patient’s bra after unilateral mastectomy at a tertiary hospital. This is the first such study in Asian women, to our knowledge. METHODS: In this prospective study, participants used the conventional bra-prosthesis followed by the customized one consecutively, each for at least 3 months before they were administered an identical questionnaire at 3 and 6 months respectively. The questionnaire assessed the patients’ experience with the prosthesis on the aspects of comfort, body image and satisfaction etc. Patients were also invited for in-depth interviews. RESULTS: Of 155 eligible patients, 148 patients participated with a response rate of 95.5%. 99 (67%) participants preferred the customized prosthesis, while 38 (25.7%) did not. 11 (7.4%) participants were undecided. Seventeen participants underwent in-depth interviews until data saturation on major qualitative themes was achieved. More patients experienced excessive sweating (p < 0.0001), greater discomfort (p = 0.0195) and higher rates of prosthesis dislodgement (p = 0.0269) with the conventional bra-prosthesis. CONCLUSION: Customized external breast prostheses could be an alternative to the conventional ones for breast cancer patients with mastectomy, with additional benefits of less sweating, more comfort and less dislodgement perceived.","PeriodicalId":9224,"journal":{"name":"Breast disease","volume":"25 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138589492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Can paternal environmental experiences affect the breast cancer risk in offspring? A systematic review 父亲的环境经历会影响后代患乳腺癌的风险吗？系统回顾

Breast disease Pub Date : 2023-12-06 DOI: 10.3233/bd-220062

Najmeh Bagher Hosseini, Sara Moosapour, Haniyeh Bashi Zadeh Fakhar, Afshin Ryan Nazari, Maryam Omrani Hasehmi, Fatemeh Hadavand, Mohammad Seraj, M. Akbari

{"title":"Can paternal environmental experiences affect the breast cancer risk in offspring? A systematic review","authors":"Najmeh Bagher Hosseini, Sara Moosapour, Haniyeh Bashi Zadeh Fakhar, Afshin Ryan Nazari, Maryam Omrani Hasehmi, Fatemeh Hadavand, Mohammad Seraj, M. Akbari","doi":"10.3233/bd-220062","DOIUrl":"https://doi.org/10.3233/bd-220062","url":null,"abstract":"INTRODUCTION: Studies in recent years have shown that parental environmental experiences can affect their offspring’s risk of breast cancer (BC). We assessed the effect of different paternal factors on BC risk in offspring by reviewing the existing literature. METHOD: This systematic review followed the Joanna Briggs Institute’s (JBI) method for systematic reviews of qualitative evidence. The primary keywords were searched in reliable databases such as PubMed, Google Scholar, Elsevier, SID, and Wiley in English until 31 December 2021. Two authors independently examined the articles in terms of inclusion criteria and quality assessment of the articles. RESULTS: Of the 438 studies, 19 met the inclusion criteria of this systematic review and were included in the study. Paternal factors investigated in these studies included age at delivery, diet, occupational exposures, occupation type and education. The reported relationships between these factors and breast cancer varied among different studies. CONCLUSION: Studies considered in this article show that fathers’ age at the time of delivery of the child, dietary habits, overweight and occupational factors can affect the incidence of BC risk in the next generation.","PeriodicalId":9224,"journal":{"name":"Breast disease","volume":"52 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138595078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Eribulin in metastatic breast cancer: Real world data 转移性乳腺癌中的 Eribulin：真实世界数据

Breast disease Pub Date : 2023-12-05 DOI: 10.3233/bd-230031

C. L. Fernández-Laguna, I. Maray, Lola Macia-Rivas, Cristina Álvarez-Asteinza, Sergio Fernández-Lastras, Veronica Velasco Durántez, Mónica Carbajales Álvarez, Ana Lozan-Blázquez

{"title":"Eribulin in metastatic breast cancer: Real world data","authors":"C. L. Fernández-Laguna, I. Maray, Lola Macia-Rivas, Cristina Álvarez-Asteinza, Sergio Fernández-Lastras, Veronica Velasco Durántez, Mónica Carbajales Álvarez, Ana Lozan-Blázquez","doi":"10.3233/bd-230031","DOIUrl":"https://doi.org/10.3233/bd-230031","url":null,"abstract":"BACKGROUND: Metastatic breast cancer (MBC) is incurable. Systemic therapy is the standard treatment; however, an optimal sequence of chemotherapy has not been established. OBJECTIVE: Evaluating effectiveness and safety of eribulin in MBC treatment and comparing the results obtained with published literature. METHODS: Observational, descriptive and retrospective study of patients with MBC treated with eribulin from 01/12/2015 to 30/10/2021. Effectiveness was analysed using Kaplan–Meier-survival-curves, for the overall number of patients treated and stratified by treatment line. Safety was measured according to adverse events (AE) based on CTCAE v5.0. Data analysis was performed using R v4.0.1. RESULTS: They were included in this study 53 women who received eribulin (median age 58 years). Comparison of median survival from this study versus published data were: progression-free-survival (PFS) 3 (IC95%: 3–4) versus 3.7 months and overall-survival (OS) 8 (IC95%: 3–4) versus 13.2 months for the overall number of patients. For the 1–3 line treatment group, PFS was 6 (IC95%: 3-NA) and OS was 15 (IC95%: 6-NA). There were 322 AEs, the most frequent being blood disorders 16% (52), general disorders 12% (38), and gastrointestinal disorders 12% (38). CONCLUSIONS: The median PFS was similar to that reported previously, with lower OS. There was a tendency to achieve better results when eribulin was used earlier. Eribulin is a less well-tolerated drug than published literature.","PeriodicalId":9224,"journal":{"name":"Breast disease","volume":"113 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138599587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genomic analysis of breast cancer patients from Kerala: A novel BRCA1 mutation detected 喀拉拉邦乳腺癌患者的基因组分析:检测到一种新的BRCA1突变

Breast disease Pub Date : 2023-11-10 DOI: 10.3233/bd-220002

Adarsh Dharmarajan, Vipin Gopinath, Sangeetha Keloth Nayanar, Sobhith Velandi Kunnummal, Satheesan Balasubramanian, Deepak Roshan Valiyaparambil Gopi

{"title":"Genomic analysis of breast cancer patients from Kerala: A novel BRCA1 mutation detected","authors":"Adarsh Dharmarajan, Vipin Gopinath, Sangeetha Keloth Nayanar, Sobhith Velandi Kunnummal, Satheesan Balasubramanian, Deepak Roshan Valiyaparambil Gopi","doi":"10.3233/bd-220002","DOIUrl":"https://doi.org/10.3233/bd-220002","url":null,"abstract":"BACKGROUND: Breast cancer is the most common cancer among females, with an incidence of 6,41,000 cases annually. The genetic makeup of the individuals, ethnicity, geographical location, lifestyle, and BMI are some well-described factors associated with breast cancer. It is well known that pathogenic variants in BRCA1 and BRCA2 are associated with a majority of hereditary breast cancer. Genome-wide association studies (GWAS) have identified more than 80 germline susceptibility loci responsible for hereditary breast cancer. METHODS: In the present study, analysis of 94 genes associated with hereditary cancer was performed using next generation sequencing (NGS) in twelve patients having breast cancer and suspected with hereditary association. RESULTS: Four out of twelve (33%) patients harbored pathogenic mutation of the BRCA1 gene. Two patients was identified p. E23Vfs*17 mutation in BRCA1, one patient had p.Glu1580Gln in BRCA1, and a novel frameshift variant p.T1456Ifs*9(c.4367Cdel) in one patient. CONCLUSION: In the present study, out of four detected mutations in the BRCA1 gene, three were known and one was a novel BRCA1 mutation. It is advised to perform NGS-based genome sequencing to identify the genetic predisposition in breast cancer patients.","PeriodicalId":9224,"journal":{"name":"Breast disease","volume":" 15","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135190959","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Axillary reverse mapping in breast cancer: An overview. 乳腺癌腋窝反向映射:综述。

Breast disease Pub Date : 2023-01-01 DOI: 10.3233/BD-220040

Yara Abbas, Omar Hamdy

引用次数: 0