-
Annals of Surgical Oncology Nov 2023The impact of ATM, CHEK2, and PALB2, the three most prevalent moderate-risk breast cancer genes, on surgical decision making is not well known.
BACKGROUND
The impact of ATM, CHEK2, and PALB2, the three most prevalent moderate-risk breast cancer genes, on surgical decision making is not well known.
METHODS
Our retrospective study included patients with resectable non-metastatic breast cancer who underwent multigene panel testing between July 2014 and January 2020 with at least one genetic alteration (pathogenic or variant of uncertain significance [VUS] in ATM [n = 49], CHEK [n = 57], or PALB2 [n = 27]). Our objectives were to determine the rate of contralateral prophylactic mastectomy (CPM) and the rate of bilateral breast cancer. Univariable analyses (UVA) and multivariable analyses (MVA) were performed to identify factors associated with CPM and bilateral breast cancer.
RESULTS
The rate of CPM was 39% (n = 49/127), with 54% (n = 25/46) of patients with a pathogenic mutation and 30% (n = 24/81) of patients with a VUS choosing CPM. On MVA, premenopausal status (odds ratio [OR] 3.46) and a pathogenic alteration (OR 3.01) were associated with increased use of CPM. Bilateral disease was noted in 16% (n = 22/138). Patients with pathogenic mutations had a 22% (n = 11/51) incidence of bilateral breast cancer, while patients with VUS had a 13% (n = 11/87) incidence, although this was not statistically significant on UVA or MVA. On MVA, premenopausal status was associated with a decreased risk of bilateral disease (OR 0.33, p = 0.022). During follow-up, a breast cancer event occurred in 16% (n = 22/138).
CONCLUSIONS
Our study identified a high rate of CPM among those with ATM, CHEK2, and PALB2 alterations, including VUS. Further studies are needed to clarify reasons for CPM among patients with moderate-risk alterations.
Topics: Humans; Female; Mastectomy; Breast Neoplasms; Prophylactic Mastectomy; Retrospective Studies; Mutation
PubMed: 37661222
DOI: 10.1245/s10434-023-14141-8 -
JAMA Surgery Jun 2021Rates of bilateral mastectomy continue to increase in average-risk women with unilateral in situ and invasive breast cancer. Contralateral prophylactic mastectomy rates... (Review)
Review
IMPORTANCE
Rates of bilateral mastectomy continue to increase in average-risk women with unilateral in situ and invasive breast cancer. Contralateral prophylactic mastectomy rates increased from 5% to 12% of all operations for breast cancer in the US from 2004 to 2012. Among women having mastectomy, rates of contralateral prophylactic mastectomy have increased from less than 2% in 1998 to 30% in 2012.
OBSERVATIONS
The increased use of breast magnetic resonance imaging and genetic testing has marginally increased the number of candidates for bilateral mastectomy. Most bilateral mastectomies are performed on women who are at no special risk for contralateral cancer. The true risk of contralateral breast cancer is not associated with the decision for contralateral prophylactic mastectomy; rather, the clinical factors associated with the probability of distant recurrence are associated with bilateral mastectomy. Several changes in society and health care delivery appear to act concurrently and synergistically. First, the anxiety engendered by a fear of cancer recurrence is focused on the contralateral cancer because this is most easily conceptualized and provides a ready target that can be acted upon. Second, the modern woman with breast cancer is supported by the surgeon and the social community of breast cancer survivors. Surgeons want to respect patient autonomy, despite guidelines discouraging bilateral mastectomy, and most women have their expenses covered by a third-party payer. Satisfaction with the results is high, but the association with improved psychosocial well-being remains to be fully understood.
CONCLUSIONS AND RELEVANCE
Reducing the use of medically unnecessary contralateral prophylactic mastectomy in women with nonhereditary, unilateral breast cancer requires a social change that addresses patient-, physician-, cultural-, and systems-level enabling factors. Such a transformation begins with educating clinicians and patients. The concerns of women who want preventive contralateral mastectomy must be explored, and women need to be informed of the anticipated benefits (or lack thereof) and risks. Areas requiring further study are considered.
Topics: Female; Humans; Patient Preference; Patient Selection; Practice Patterns, Physicians'; Prophylactic Mastectomy; Unilateral Breast Neoplasms
PubMed: 33566074
DOI: 10.1001/jamasurg.2020.6664 -
Gland Surgery Dec 2015Women with a BRCA1/2 gene mutation and others with a high breast cancer risk may opt for bilateral prophylactic mastectomy. To allow for immediate breast reconstruction... (Review)
Review
Women with a BRCA1/2 gene mutation and others with a high breast cancer risk may opt for bilateral prophylactic mastectomy. To allow for immediate breast reconstruction the skin envelope is left in situ with or without the nipple-areola complex (NAC). Although possibly leading to a more natural aesthetic outcome than the conventional total mastectomy, so-called skin-sparing mastectomies (SSM) and nipple-sparing mastectomies (NSM) may leave some breast glandular tissue in situ. The oncological risk associated with remaining breast glandular tissue is unclear. We present a case of primary breast cancer after prophylactic mastectomy followed by a review of the literature on remaining breast glandular tissue after various mastectomy techniques and oncological safety of prophylactic mastectomies.
PubMed: 26645001
DOI: 10.3978/j.issn.2227-684X.2015.02.01 -
Medicina (Kaunas, Lithuania) Mar 2024Breast cancer remains a significant contributor to morbidity and mortality within oncology. Risk factors, encompassing genetic and environmental influences,... (Review)
Review
Breast cancer remains a significant contributor to morbidity and mortality within oncology. Risk factors, encompassing genetic and environmental influences, significantly contribute to its prevalence. While germline mutations, notably within the BRCA genes, are commonly associated with heightened breast cancer risk, a spectrum of other variants exists among affected individuals. Diagnosis relies on imaging techniques, biopsies, biomarkers, and genetic testing, facilitating personalised risk assessment through specific scoring systems. Breast cancer screening programs employing mammography and other imaging modalities play a crucial role in early detection and management, leading to improved outcomes for affected individuals. Regular screening enables the identification of suspicious lesions or abnormalities at earlier stages, facilitating timely intervention and potentially reducing mortality rates associated with breast cancer. Genetic mutations guide screening protocols, prophylactic interventions, treatment modalities, and patient prognosis. Prophylactic measures encompass a range of interventions, including chemoprevention, hormonal inhibition, oophorectomy, and mastectomy. Despite their efficacy in mitigating breast cancer incidence, these interventions carry potential side effects and psychological implications, necessitating comprehensive counselling tailored to individual cases.
Topics: Humans; Female; Breast Neoplasms; Romania; Early Detection of Cancer; Prophylactic Mastectomy; Mammography; Risk Factors
PubMed: 38674216
DOI: 10.3390/medicina60040570 -
Avicenna Journal of Medicine 2018The high incidence and recurrence rate of breast cancer has influenced multiple strategies such as early detection with imaging, chemoprevention and surgical... (Review)
Review
The high incidence and recurrence rate of breast cancer has influenced multiple strategies such as early detection with imaging, chemoprevention and surgical interventions that serve as preventive measures for women at high risk. Prophylactic mastectomy is one of the growing strategies of breast cancer risk reduction that is of a special importance for breast cancer gene mutation carriers. Women with personal history of cancerous breast lesions may consider ipsilateral or contralateral mastectomy as well. Existing data showed that mastectomy effectively reduces breast cancer risk. However, careful risk estimation is necessary to wisely select individuals who will benefit from preventing breast cancer.
PubMed: 30090744
DOI: 10.4103/ajm.AJM_21_18 -
The Breast Journal Sep 2020
Topics: Austria; Breast Neoplasms; Female; Humans; Mammaplasty; Mastectomy; Prophylactic Mastectomy; Registries
PubMed: 32783312
DOI: 10.1111/tbj.14016 -
Ecancermedicalscience 2018The presence of a deleterious mutation, most commonly a mutation, has a tremendous impact on the management of breast cancer. We review the surgical management of... (Review)
Review
INTRODUCTION
The presence of a deleterious mutation, most commonly a mutation, has a tremendous impact on the management of breast cancer. We review the surgical management of mutation carriers, and two other potentially high-risk mutations, TP53 and PALB2.
METHODOLOGY
A search was done on PubMed, limited to reviews and the English language only. The search terms used were '' or '' or '' and 'surgery'. Fifteen articles were identified by searching and one article was obtained from other sources.
RESULTS
Breast-conserving surgery has equivalent survival, but may have an increased risk of local recurrence, compared to mastectomy among mutation carriers. Contralateral prophylactic mastectomy may not improve overall survival, despite reducing the risk of developing contralateral breast cancer. The use of preoperative genetic testing allows patients to have combined curative and prophylactic surgery. However, preoperative genetic testing may influence patients to make rash decisions. In healthy mutation carriers, bilateral prophylactic mastectomy is done to prevent breast cancer from occurring. Bilateral prophylactic mastectomy is highly effective in reducing the risk of breast cancer in healthy mutation-positive women and may have a survival benefit. Prophylactic oophorectomy reduces the risk of ovarian cancer, but may not have an effect on the risk of breast cancer. There is a lack of studies on surgery for non- mutations. and are potentially high-risk mutations for breast cancer, which may justify the use of prophylactic surgery. Advice should be given on a case-by-case basis.
CONCLUSION
A comprehensive approach is needed to provide optimum treatment for breast cancer patients with deleterious mutations.
PubMed: 30174725
DOI: 10.3332/ecancer.2018.863 -
Psycho-oncology Apr 2023Women carrying a BRCA1/2 pathogenic variant have an increased risk for breast cancer and may opt for risk-reducing bilateral mastectomy. In this study, we examine which...
OBJECTIVE
Women carrying a BRCA1/2 pathogenic variant have an increased risk for breast cancer and may opt for risk-reducing bilateral mastectomy. In this study, we examine which demographic, psychosocial, and personality factors are associated with their decision to undergo risk-reducing bilateral mastectomy.
METHODS
Cancer-unaffected women with a pathogenic variant in BRCA1 or BRCA2 were recruited before receiving their genetic test result and completed follow-up including decision to undergo mastectomy over 6-8 months after genetic test result disclosure. Anxiety, depression, breast cancer worry, personality and sociodemographic data were assessed.
RESULTS
A total of 125 cancer-unaffected women were included in the analysis. Participants were found to have higher anxiety levels than the general female population regardless of mastectomy decision. Breast cancer worry was higher among women who opted for risk-reducing mastectomy and did not decrease over time. By contrast, women who did not opt for surgery experienced decreasing levels of breast cancer worry. Regression analysis found that women with a pathogenic variant in BRCA1, younger women and women with higher breast cancer worry were more likely to opt for surgery.
CONCLUSIONS
Our study provides valuable insights into the factors that influence women with a BRCA1/2 pathogenic variant to undergo risk-reducing mastectomy. These findings may be helpful in understanding individual differences in decision-making concerning preventive options and show the need to address negative anticipatory feelings associated with carrying a pathogenic variant in a high breast cancer risk gene in clinical care.
Topics: Female; Humans; Breast Neoplasms; Mastectomy; Genes, BRCA1; Prophylactic Mastectomy; Psychological Distress; Mutation; BRCA1 Protein
PubMed: 36774644
DOI: 10.1002/pon.6111 -
Psycho-oncology Oct 2022Patients with non-familial, unilateral breast cancer have a low risk of contralateral breast cancer. Thus, clinical studies have shown no survival benefit for patients...
OBJECTIVE
Patients with non-familial, unilateral breast cancer have a low risk of contralateral breast cancer. Thus, clinical studies have shown no survival benefit for patients who undergo contralateral prophylactic mastectomy (CPM) compared to those undergoing unilateral surgeries for non-familial unilateral breast cancers. Despite this evidence, there has been a steady increase in rates of CPM in the U.S. Patient factors influencing this choice have been identified in previous studies, but seldom in a prospective manner. This prospective study was designed to assess emotion and any association with a patient's decision to ultimately undergo CPM.
METHODS
We recruited patients with newly diagnosed, unilateral, non-metastatic breast cancer, who had not yet had surgery, to participate in a prospective, longitudinal study to examine the impact of emotions on CPM decision-making.
RESULTS
Among the 86 final participants, all completed the pre-visit survey (100%) and 52 patients completed the post-visit survey (60%). Patients undergoing CPM were significantly younger than those who did not. There was no statistically significant association between emotion and receipt of CPM. There was a trend towards undergoing CPM in patients with a less open personality type and those with more negative emotion, though not statistically significant.
CONCLUSIONS
This study found a trend toward increased CPM receipt in those with less open personality types and more negative emotion, especially post-consultation, but none of these findings was significant. Future work should include development of cancer-specific emotion scales and larger studies of possible connections between emotion, personality type and surgical decision-making for breast cancer patients.
Topics: Breast Neoplasms; Decision Making; Emotions; Female; Humans; Longitudinal Studies; Mastectomy; Prophylactic Mastectomy; Prospective Studies
PubMed: 35946336
DOI: 10.1002/pon.6013 -
Clinics in Plastic Surgery Jan 2018Breast cancer affects nearly every woman either personally or through a family member or friend. Awareness of associated familial and genetic risks has been steadily... (Review)
Review
Breast cancer affects nearly every woman either personally or through a family member or friend. Awareness of associated familial and genetic risks has been steadily increasing over the last decade. Bilateral risk-reduction mastectomy seeks to decrease the incidence and mortality of breast cancer in women without abnormality but with elevated risk of developing cancer. Contralateral risk-reduction mastectomy aims to decrease the incidence of contralateral breast cancer in women diagnosed with unilateral breast cancer. As understanding improves and techniques progress, the relative merits of surgical risk reduction will change as well.
Topics: Breast Neoplasms; Female; Genetic Predisposition to Disease; Humans; Mammaplasty; Prophylactic Mastectomy; Risk Factors
PubMed: 29080654
DOI: 10.1016/j.cps.2017.08.013