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Genes and Environment : the Official... Dec 2023The number of breast cancer patients is increasing worldwide. Furthermore, breast cancer often develops in young people, even those only in their 30s, who play a central... (Review)
Review
The number of breast cancer patients is increasing worldwide. Furthermore, breast cancer often develops in young people, even those only in their 30s, who play a central role in their families and society. Results from many cohort studies suggest that dietary factors, alcohol consumption, lack of physical activity, obesity, nulliparity, breastfeeding, oral contraceptive use, fertility treatment and hormone replacement therapy are risk factors for breast cancer. However, the effects of lifestyle habits on the human body are complexly intertwined with various factors, and the effects vary from person to person depending on their constitution, etc., so there is no basis for this. Therefore, primary prevention of breast cancer is still not being implemented appropriately and efficiently. Furthermore, advances in genomic technology make it possible to assess the risk of developing breast cancer in some individuals. As a result, the establishment of breast cancer prevention methods has become a health priority for high-risk individuals.Drugs such as tamoxifen and raloxifene are known to prevent the development of breast cancer, based on the results of multiple randomized controlled trials, but there are concerns regarding the side effects of these powerful agents. In addition, several clinical studies have shown that prophylactic mastectomy for women who have BRCA mutations or who are identified as being at high risk reduces the incidence of breast cancer development. However, many issues, such as changes in long-term quality of life after preventive surgery, the optimal timing of surgery and the identification of women who are at high risk but will not develop breast cancer, remain uncertain. In other words, although many researchers have focused on chemoprevention and surgical prevention and clear preventive effects of these strategies have been confirmed, it cannot be said that they are widely accepted. Therefore, the current evidence for chemoprevention and surgical prevention, as well as highlights of several interesting lines of research currently underway, are summarized in this article.
PubMed: 38082340
DOI: 10.1186/s41021-023-00287-0 -
Cancers Dec 2023Germline pathogenic variants (PV) in and genes, which account for 20% of familial breast cancer (BC) cases, are highly penetrant and are associated with Hereditary...
BACKGROUND
Germline pathogenic variants (PV) in and genes, which account for 20% of familial breast cancer (BC) cases, are highly penetrant and are associated with Hereditary Breast/Ovarian Cancer Syndrome. Previous studies, mostly including higher numbers of BC patients, yielded conflicting results regarding BC outcomes. In the Portuguese population, BC is diagnosed more frequently than BC. We aimed to compare clinicopathological characteristics and prognosis between BC patients with and mutations and a control group without germline PV (). Furthermore, we explored the frequency and outcomes of risk-reducing surgeries in -mutated patients.
METHODS
Prospective follow-up was proposed for patients with a diagnosed PV. For this study, a matched control group (by age at diagnosis, by decade, and by stage at diagnosis) included BC patients without germline PV. We compared overall survival (OS) and invasive disease-free survival (iDFS) within the three groups, and the use of risk-reducing surgeries among the cohort.
RESULTS
For a mean follow-up time of 113.0 months, -wt patients showed longer time to recurrence ( = 0.002) and longer OS ( < 0.001). Among patients with mutations, no statistical differences were found, although patients with BC had longer iDFS and OS. Uptake of risk-reducing surgeries (contralateral prophylactic mastectomy and salpingo-oophorectomy) were negative predictors of invasive disease and death, respectively.
CONCLUSIONS
Testing positive for a PV is associated with a higher risk of relapse and death in patients with BC in the Portuguese population. Risk-reducing mastectomy and salpingo-oophorectomy were associated with lower incidence of relapse and longer median iDFS and OS, respectively.
PubMed: 38067403
DOI: 10.3390/cancers15235699 -
Breast (Edinburgh, Scotland) Feb 2024In women at high risk of developing breast cancer, bilateral prophylactic mastectomy (BPM) significantly reduces the risk; simultaneously, breast reconstruction... (Review)
Review
In women at high risk of developing breast cancer, bilateral prophylactic mastectomy (BPM) significantly reduces the risk; simultaneously, breast reconstruction preserves body integrity. Given the complex and personal nature of such surgical procedures, patient assessment of satisfaction and health-related quality of life (HRQoL) is essential in evaluation of surgical outcomes. With this review, we aim to organize the current knowledge on patient-reported outcomes (PROs) in bilateral prophylactic surgery. Literature search was conducted using the databases Google Scholar, PubMed, and Web of Science to address the following questions, which can help clinicians and women undergoing the procedures navigate their healthcare decision-making process: How does BPM with reconstruction influence cancer-related distress? How does the surgery impact patient satisfaction and HRQoL? How do preoperative PROs differ from postoperative outcomes? Does the type of BPM and the type of reconstruction impact patient satisfaction and HRQoL? Furthermore, we summarize available patient-reported outcome measures (PROMs) that can be administered to women undergoing BPM with reconstruction. In addition, we discuss possible future directions for PRO research in prophylactic breast surgery.
Topics: Female; Humans; Mastectomy; Prophylactic Mastectomy; Breast Neoplasms; Quality of Life; Mammaplasty; Patient Satisfaction; Patient Reported Outcome Measures
PubMed: 37995427
DOI: 10.1016/j.breast.2023.103602 -
The Application of Clinical Genetics 2023Oncogenetic counseling has been provided at the University Hospital of Bern since 2004. Since the public announcement by Ms. Angelina Jolie in 2013 that she had...
INTRODUCTION
Oncogenetic counseling has been provided at the University Hospital of Bern since 2004. Since the public announcement by Ms. Angelina Jolie in 2013 that she had undergone bilateral prophylactic mastectomy, other oncogenetic centers have reported an increase in consultations. We conducted a retrospective review of the oncogenetic consultations at our center to evaluate the presence and the consequences of a potential "Angelina Jolie effect" and to characterize this patient population over a decade.
METHODS
All initial oncogenetic consultations between 2005 and 2015 were collected, using electronic records. Demographics, cancer type, testing, and mutation results, as well as consultation rates, were recorded. The yearly trends were analyzed using Joinpoint regression analysis (JPA).
RESULTS
In total, 823 patient cases were included, mostly women (84%), half of them with a positive personal cancer history. A hereditary breast and ovarian cancer (HBOC) risk was the main reason for consultation (72%). Moreover, 22% of patients had a previously detected familial mutation. Two-thirds underwent testing, which yielded a positive test result in 31% of the cases. According to JPA, the consultation rate increased throughout the decade, with a significant upward trend from 2013. Rates of testing and positive results remained stable over time. Most patients (86%) fulfilled the referral criteria of published guidelines.
DISCUSSION
At our center, we found retrospectively a disproportionate growth in the referral rate for HBOC cases compared to other oncological cases after the year 2013, but overall, no change in testing rates was detected.
PubMed: 37965626
DOI: 10.2147/TACG.S410261 -
Breast (Edinburgh, Scotland) Dec 2023Almost two percent of individuals in the United States identify as gender non-conforming. In the female-to-male (FTM) transgender population, masculinizing hormone...
PURPOSE
Almost two percent of individuals in the United States identify as gender non-conforming. In the female-to-male (FTM) transgender population, masculinizing hormone therapy with testosterone is commonly prescribed in gender transition. To date, the effects of exogenous androgens on breast tissue and its roles in altering breast cancer risk are poorly understood. This study examines the histopathologic findings in gender affirming mastectomy (GAM) in transgender FTM patients and the effects of exogenous androgens on estrogen receptors (ER) and androgen receptors (AR).
METHODS
A retrospective review of pathology specimens obtained between 2017 and 2020 was performed comparing androgen exposed breast tissue with breast tissue without androgen exposure. Breast specimens were obtained from patients who underwent FTM GAM with recorded exogenous androgen exposure. Control breast specimens were obtained from reduction mammoplasty (RM) procedures in cisgender women which were aged matched to the GAM cohort, as well as postmenopausal women with benign/prophylactic mastectomy procedures; all controls were without androgen exposure. The histopathologic findings were assessed. Immunohistochemistry for AR and ER was performed and the score interpreted by digital image analysis.
RESULTS
Androgen-exposed breast tissue revealed dense fibrotic stroma, lobular atrophy, thickened lobular basement membranes, and gynecomastoid changes. Longer duration of androgen exposure resulted in a more pronounced effect. The incidence of atypia or cancer was lower in GAM than RM cohort. ER and AR expression was highest in transgender male breast tissue with intermediate duration of exogenous androgen exposure.
CONCLUSION
Increased androgen exposure is associated with lobular atrophy and gynecomastoid changes in breast parenchyma. Overall, ER and AR are expressed strongly in lobular epithelium in patients with prolonged androgen exposure. Exogenous testosterone does not appear to increase risk for breast cancer. Additional studies are needed to investigate the mechanism responsible for these changes at a cellular level and its role in cancer development.
Topics: Female; Humans; Male; Breast Neoplasms; Receptors, Androgen; Androgens; Mastectomy; Transgender Persons; Estrogens; Testosterone; Receptors, Estrogen; Atrophy
PubMed: 37951051
DOI: 10.1016/j.breast.2023.103596 -
Plastic and Reconstructive Surgery.... Nov 2023Poland syndrome is classically described as symbrachydactyly, with hypoplasia of the pectoralis major and other upper thoracic musculoskeletal structures. It is thought...
BACKGROUND
Poland syndrome is classically described as symbrachydactyly, with hypoplasia of the pectoralis major and other upper thoracic musculoskeletal structures. It is thought to be caused by intrauterine interruption in subclavian arterial flow and often includes breast hypoplasia. Affected vasculature can pose a challenge for reconstruction with free flaps because inflow may not be reliable in this patient population.
METHODS
We present the rare case of a 28-year-old woman with left-sided Poland syndrome, significant family history of breast cancer, and mutation who underwent bilateral prophylactic nipple-sparing mastectomies with successful immediate bilateral deep inferior epigastric artery perforator free flap reconstruction. The surgical literature in this clinical scenario is also reviewed.
RESULTS
Preoperative computed tomography angiography of the chest successfully demonstrated the patency and quantified the caliber of the internal mammary vessels to support free flap breast reconstruction.
CONCLUSIONS
Free tissue transfer is a viable option for breast reconstruction in patients with Poland syndrome undergoing mastectomy guided by preoperative computed tomography angiography to characterize the internal mammary vasculature.
PubMed: 37936827
DOI: 10.1097/GOX.0000000000005374 -
Frontiers in Genetics 2023Breast cancer susceptibility genes such as , , , and many others are increasingly recognized among our patient population. In addition to their impact on treatment...
Breast cancer susceptibility genes such as , , , and many others are increasingly recognized among our patient population. In addition to their impact on treatment decisions of tested patients themselves, identifying at-risk family members offer opportunities for cancer preventive measures. This is an observational cross-sectional study of adult breast cancer patients with positive breast-cancer-susceptibility germline variants who received treatment at our institution. Patients with variants of uncertain significance (VUS), or who refused to give consent, were excluded. The data was collected from an eligible sample of breast cancer patients using a structured questionnaire developed by the study team and tested for validity and reliability, as well as a clinical chart review form. Patients were invited to participate in the study during their scheduled oncology clinics visit. 169 patients were enrolled, including 42 (24.9%) with pathogenic/likely pathogenic (P/LP) variants, 84 (49.7%) with and 43 (25.4%) with non-BRCA variants. All patients were female and the mean age was 45 ± 9.9 years. Among 140 eligible patients, 104 (74.3%) underwent prophylactic mastectomy, while 79 (59.0%) of 134 eligible patients had prophylactic bilateral salpingo-oophorectomy (BSO). Results were communicated with family members by majority ( = 160, 94.7%), including 642 first degree female relatives, and 286 (44.5%) of them have taken no action. Fear of positive test results, cost of testing, unwillingness to undergo preventive measures, and social stigma were cited as barriers to genetic testing in 54%, 50%, 34% and 15%, respectively. Risk-reducing interventions including mastectomy and BSO were carried by majority of patients with P/LP variants. However, though the rate of communication of genetic testing results with family members was high, proper preventive measures were relatively low. Cost and fear of cancer diagnosis, were the leading causes that prevented cascade testing in our cohort.
PubMed: 37920853
DOI: 10.3389/fgene.2023.1194075 -
Current Oncology (Toronto, Ont.) Oct 2023Pathogenic variants (PVs) in and increase the lifetime risks of breast and ovarian cancer. Guidelines recommend breast screening (magnetic resonance imaging (MRI) and...
Specialty Care and Counselling about Hereditary Cancer Risk Improves Adherence to Cancer Screening and Prevention in Newfoundland and Labrador Patients with Pathogenic Variants: A Population-Based Retrospective Cohort Study.
Pathogenic variants (PVs) in and increase the lifetime risks of breast and ovarian cancer. Guidelines recommend breast screening (magnetic resonance imaging (MRI) and mammogram) or risk-reducing mastectomy (RRM) and salpingo-oophorectomy (RRSO). We sought to (1) characterize the population of PV carriers in Newfoundland and Labrador (NL), (2) evaluate risk-reducing interventions, and (3) identify factors influencing screening and prevention adherence. We conducted a retrospective study from a population-based provincial cohort of PV carriers. The eligibility criteria for risk-reducing interventions were defined for each case and patients were categorized based on their level of adherence with recommendations. Chi-squared and regression analyses were used to determine which factors influenced uptake and level of adherence. A total of 276 PV carriers were identified; 156 living NL biological females composed the study population. Unaffected females were younger at testing than those with a cancer diagnosis (44.4 years versus 51.7 years; = 0.002). Categorized by eligibility, 61.0%, 61.6%, 39.0%, and 75.7% of patients underwent MRI, mammogram, RRM, and RRSO, respectively. Individuals with breast cancer were more likely to have RRM (64.7% versus 35.3%; < 0.001), and those who attended a specialty hereditary cancer clinic were more likely to be adherent to recommendations (73.2% versus 13.4%; < 0.001) and to undergo RRSO (84.1% versus 15.9%; < 0.001). Nearly 40% of the female PV carriers were not receiving breast surveillance according to evidence-based recommendations. Cancer risk reduction and uptake of breast imaging and prophylactic surgeries are significantly higher in patients who receive dedicated specialty care. Organized hereditary cancer prevention programs will be a valuable component of Canadian healthcare systems and have the potential to reduce the burden of disease countrywide.
Topics: Humans; Female; Breast Neoplasms; BRCA1 Protein; Mastectomy; Retrospective Studies; BRCA2 Protein; Early Detection of Cancer; Genetic Predisposition to Disease; Newfoundland and Labrador; Canada; Counseling
PubMed: 37887578
DOI: 10.3390/curroncol30100678 -
World Journal of Surgical Oncology Oct 2023Minimal-accessed (robotic and endoscopic) breast cancer surgery is increasingly performed due to better cosmetic results and acceptable oncological outcomes. This study...
BACKGROUND
Minimal-accessed (robotic and endoscopic) breast cancer surgery is increasingly performed due to better cosmetic results and acceptable oncological outcomes. This study aims to demonstrate the clinical safety and patient-reported cosmetic satisfaction of single-port three-dimensional endoscopic-assisted breast surgery (S-P 3D EABS), which is our new endoscopic surgical innovation, in both malignant and benign breast conditions.
METHODS
Patients who underwent S-P 3D EABS from 1 August 2018 to 31 July 2022 in a single institution were enrolled. Clinical outcomes of this procedure were retrospectively reviewed, and the patient-reported cosmetic satisfaction was evaluated by a questionnaire and reported herein.
RESULTS
During the study period, 145 patients underwent 164 procedures of S-P 3D EABS. One hundred fifty (91.5%) procedures were endoscopic-assisted nipple-sparing mastectomy (S-P 3D E-NSM; 117 therapeutic procedures for breast cancer, 13 prophylactic mastectomies, 20 procedures for gynecomastia). Fourteen (8.5%) procedures of endoscopic-assisted breast-conserving surgery (S-P 3D E-BCS) were performed (12 S-P 3D E-BCS, 2 S-P 3D E-BCS with 3D videoscope-assisted partial breast reconstruction, which was 1 case of latissimus dorsi flap and 1 case of omental flap). The mean operative time was 245 ± 110 min in S-P 3D E-NSM and 260 ± 142 min in S-P 3D E-BCS. The mean intraoperative blood loss was 49.7 ± 46.9 ml in S-P 3D E-NSM and 32.8 ± 17.5 ml in S-P 3D E-BCS. Subnipple biopsy showed positive malignancy in 3 (2.6%) S-P 3D E-NSM patients. None of the S-P 3D E-BCS patients found margin involvement; however, 3 (2.6%) reported margin involvement in S-P 3D E-NSM patients. Thirty-two complications were found (24.6%): 7 (5.3%) transient nipple-areolar complex (NAC) ischemia, 7 (5.3%) partial NAC necrosis, 1 (0.7%) total NAC necrosis, and 1 (0.7%) implant loss. During the mean follow-up time of 34 months, there were 2 (1.5%) patients with locoregional recurrence, 9 (6.9%) distant metastasis, and 2 (1.5%) mortality. 78.6% (77/98) of patients answering the cosmetic-evaluated questionnaire reported good and excellent overall satisfaction.
CONCLUSIONS
S-P 3D EABS is a novel surgical innovation, which is able to perform safely in either malignant or benign breast conditions and offer promising cosmetic results.
Topics: Humans; Breast Neoplasms; Gynecomastia; Mammaplasty; Mastectomy; Necrosis; Neoplasm Recurrence, Local; Nipples; Patient Reported Outcome Measures; Patient Satisfaction; Retrospective Studies; Female
PubMed: 37880770
DOI: 10.1186/s12957-023-03191-7 -
Plastic and Reconstructive Surgery.... Oct 2023Infections are problematic in postmastectomy implant-based reconstruction with infection rates as high as 30%. Strategies to reduce the risk of infection have...
Infections are problematic in postmastectomy implant-based reconstruction with infection rates as high as 30%. Strategies to reduce the risk of infection have demonstrated various efficacies. A prolonged course of systemic, oral antibiotics has not shown evidence-based benefit. Although absorbable antibiotic beads have been described for orthopedic procedures and pressure wounds, their use has not been well studied during breast reconstruction, particularly for prepectoral implant placement. The purpose of this study was to evaluate the selective use of prophylactic absorbable calcium sulfate antibiotic beads during high-risk implant-based, prepectoral breast reconstruction after mastectomy. Patients who underwent implant-based, prepectoral breast reconstruction between 2019 and 2022 were reviewed. Groups were divided into those who received antibiotic beads and those who did not. Outcome variables included postoperative infection at 90 days. A total of 148 patients (256 implants) were included: 15 patients (31 implants) who received biodegradable antibiotic beads and 133 patients (225 implants) in the control group. Patients who received antibiotic beads were more likely to have a history of infection (66.7%) compared with the control group (0%) ( < 0.01). Surgical site infection occurred in 3.2% of implants in the antibiotic bead group compared with 7.6%, but this did not reach statistical significance. The incidence of infection in high-risk patients who have absorbable antibiotic beads placed during the time of reconstruction seems to be normalized to the control group in this pilot study. We present a novel use of prophylactic absorbable antibiotic beads in prepectoral breast implant reconstruction.
PubMed: 37850203
DOI: 10.1097/GOX.0000000000005353