Sabas Carlos Vieira, Cristiane Amaral Dos Reis, Mariana Elvas Feitosa Holanda, Danilo Rafael da Silva Fontinele, Alessandro Igor Cavalcanti Leal, Fernanda Teresa de Lima
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.
{"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":"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p>","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}
Solmaz Goldoost, H. Zarredar, M. Asadi, Milad Shirvaliloo, M. Raeisi
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.
{"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}
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
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.
{"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}
R. P. Ng, John C. Allen, Yen-Yen Chia, Geok Hoon Lim
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.
{"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}
Najmeh Bagher Hosseini, Sara Moosapour, Haniyeh Bashi Zadeh Fakhar, Afshin Ryan Nazari, Maryam Omrani Hasehmi, Fatemeh Hadavand, Mohammad Seraj, M. Akbari
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.
{"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}
C. L. Fernández-Laguna, I. Maray, Lola Macia-Rivas, Cristina Álvarez-Asteinza, Sergio Fernández-Lastras, Veronica Velasco Durántez, Mónica Carbajales Álvarez, Ana Lozan-Blázquez
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.
{"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}
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.
{"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}
Standard operative management for breast carcinoma has significantly shifted from extensive procedures to minor interventions.Although axillary dissection was a fundamental component of operative management, sentinel biopsy is an actual process for axillary staging. Axillary dissection may be postponed for cases that have negative SLNs or 1 or 2 infiltrated lymph nodes undergoing breast or axillary radiation. Contrarily, axillary dissection is still the conventional management for patients with clinically positive nodes.Arm lymphedema is a frequent and overwhelming complication of axillary dissection, with a worse impact on the patient's life.Axillary reverse mapping was recently introduced to map and conserve the lymph drain of the upper limb throughout axillary dissection or sentinel biopsy. A technique based on the theory that the breast's lymphatic drainage differs from those that drain the arm, so preserving lymphatic drainage of the upper limb can prevent lymphedema, thereby not raising the risk of axillary recurrence.Therefore, this technique is the reverse of sentinel biopsy, which remove the lymph nodes that drain the breast.
{"title":"Axillary reverse mapping in breast cancer: An overview.","authors":"Yara Abbas, Omar Hamdy","doi":"10.3233/BD-220040","DOIUrl":"https://doi.org/10.3233/BD-220040","url":null,"abstract":"<p><p>Standard operative management for breast carcinoma has significantly shifted from extensive procedures to minor interventions.Although axillary dissection was a fundamental component of operative management, sentinel biopsy is an actual process for axillary staging. Axillary dissection may be postponed for cases that have negative SLNs or 1 or 2 infiltrated lymph nodes undergoing breast or axillary radiation. Contrarily, axillary dissection is still the conventional management for patients with clinically positive nodes.Arm lymphedema is a frequent and overwhelming complication of axillary dissection, with a worse impact on the patient's life.Axillary reverse mapping was recently introduced to map and conserve the lymph drain of the upper limb throughout axillary dissection or sentinel biopsy. A technique based on the theory that the breast's lymphatic drainage differs from those that drain the arm, so preserving lymphatic drainage of the upper limb can prevent lymphedema, thereby not raising the risk of axillary recurrence.Therefore, this technique is the reverse of sentinel biopsy, which remove the lymph nodes that drain the breast.</p>","PeriodicalId":9224,"journal":{"name":"Breast disease","volume":"42 1","pages":"137-146"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9431293","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}
Afsaneh Alikhassi, Mia Skarpathiotakis, Fang-L Lu, Belinda Curpen
Pseudoangiomatous stromal hyperplasia (PASH) is a benign breast pathology, which most commonly presents incidentally along with other breast pathologies. The etiology and pathogenesis of PASH are still unknown; however, there is some evidence suggesting PASH is hormone dependent. The clinical history, presentation, and imaging appearance of PASH are variable. Clinically, PASH has a wide spectrum of presentations, from being silent to gigantomastia. On imaging, PASH demonstrates various benign to suspicious features. Here we summarize PASH's clinical presentation, histopathology, imaging features, and management.
{"title":"Pseudoangiomatous stromal hyperplasia of the breast, imaging and clinical perspective: A review.","authors":"Afsaneh Alikhassi, Mia Skarpathiotakis, Fang-L Lu, Belinda Curpen","doi":"10.3233/BD-220072","DOIUrl":"https://doi.org/10.3233/BD-220072","url":null,"abstract":"<p><p>Pseudoangiomatous stromal hyperplasia (PASH) is a benign breast pathology, which most commonly presents incidentally along with other breast pathologies. The etiology and pathogenesis of PASH are still unknown; however, there is some evidence suggesting PASH is hormone dependent. The clinical history, presentation, and imaging appearance of PASH are variable. Clinically, PASH has a wide spectrum of presentations, from being silent to gigantomastia. On imaging, PASH demonstrates various benign to suspicious features. Here we summarize PASH's clinical presentation, histopathology, imaging features, and management.</p>","PeriodicalId":9224,"journal":{"name":"Breast disease","volume":"42 1","pages":"147-153"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9431296","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}
Daniela Patino-Hernandez, Daniel G Fernández-Ávila, Óscar Mauricio Muñoz-Velandia, Isabel Del Socorro Moreno Luna
Background: The Delphi technique is a consensus method aiming to obtain statistical estimations from a qualitative approach, through an iterative process that leads to consensus within experts. The main characteristics of the technique include iteration, anonymity, feedback, and consensus reaching. When high-quality, quantitative evidence on a particular topic is insufficient, the Delphi technique can be used for making decisions in clinical scenarios. However, the quality of studies on breast cancer conducted with this technique, has not been assessed.
Objective: We aim to evaluate the quality of studies on breast cancer which used the Delphi technique as their method.
Methods: A quality assessment tool (Quali-D) was created through consensus among experts on the Delphi technique. Then, the tool was applied to studies on breast cancer which used the Delphi technique as their method.
Results: Studies conducted through the Delphi technique mainly assessed for quality indicators and expressed needs in patients with breast cancer. High-quality characteristics were reported in 63.89% of the studies. 98.61% used the Delphi technique due to lack of a more adequate method to solve their research question. 98.61% summarized and presented results in a clear way. In 91.67% of the studies, at least two rounds were conducted. 86.11% described the methods for expert selection in a complete manner. Only 54.17% of the studies reported an anonymous process and 4.17% of the studies disclosed conflicts of interest thoroughly.
Conclusions: A variety of topics were assessed through the Delphi technique in cases where no other technique would have been more appropriate for assessing these issues. Significant limitations are present in terms of anonymity and full disclosure of conflicts of interest. We found that the quality of studies conducted with the Delphi technique regarding breast cancer is overall good. However, the limitations of each study must be considered when applying their results to clinical practice.
{"title":"Quality assessment of breast cancer studies conducted with the Delphi technique.","authors":"Daniela Patino-Hernandez, Daniel G Fernández-Ávila, Óscar Mauricio Muñoz-Velandia, Isabel Del Socorro Moreno Luna","doi":"10.3233/BD-220079","DOIUrl":"https://doi.org/10.3233/BD-220079","url":null,"abstract":"<p><strong>Background: </strong>The Delphi technique is a consensus method aiming to obtain statistical estimations from a qualitative approach, through an iterative process that leads to consensus within experts. The main characteristics of the technique include iteration, anonymity, feedback, and consensus reaching. When high-quality, quantitative evidence on a particular topic is insufficient, the Delphi technique can be used for making decisions in clinical scenarios. However, the quality of studies on breast cancer conducted with this technique, has not been assessed.</p><p><strong>Objective: </strong>We aim to evaluate the quality of studies on breast cancer which used the Delphi technique as their method.</p><p><strong>Methods: </strong>A quality assessment tool (Quali-D) was created through consensus among experts on the Delphi technique. Then, the tool was applied to studies on breast cancer which used the Delphi technique as their method.</p><p><strong>Results: </strong>Studies conducted through the Delphi technique mainly assessed for quality indicators and expressed needs in patients with breast cancer. High-quality characteristics were reported in 63.89% of the studies. 98.61% used the Delphi technique due to lack of a more adequate method to solve their research question. 98.61% summarized and presented results in a clear way. In 91.67% of the studies, at least two rounds were conducted. 86.11% described the methods for expert selection in a complete manner. Only 54.17% of the studies reported an anonymous process and 4.17% of the studies disclosed conflicts of interest thoroughly.</p><p><strong>Conclusions: </strong>A variety of topics were assessed through the Delphi technique in cases where no other technique would have been more appropriate for assessing these issues. Significant limitations are present in terms of anonymity and full disclosure of conflicts of interest. We found that the quality of studies conducted with the Delphi technique regarding breast cancer is overall good. However, the limitations of each study must be considered when applying their results to clinical practice.</p>","PeriodicalId":9224,"journal":{"name":"Breast disease","volume":"42 1","pages":"155-161"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9431297","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}
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