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Breast Surgery
Published in Tjun Tang, Elizabeth O'Riordan, Stewart Walsh, Cracking the Intercollegiate General Surgery FRCS Viva, 2020
Gaural Patel, Lucy Kate Satherley, Animesh JK Patel, Georgina SA Phillips
How would you approach a patient with a known breast cancer who is a BRCA1 carrier?Index cancer is the primary concern.Mortality is linked to the index cancer rather than possible future risk to the contralateral breast.Surgical and oncological treatment of the index cancer.Risk-reducing surgery may be offered contemporaneously; however, bear in mind the risk of delay to adjuvant treatment if complications arise.The patient must be aware that contralateral surgery will not prevent her dying from breast cancer.If the patient is premenopausal, counsel and advise regarding completion of family and possible oophorectomy.
Nipple-sparing mastectomy
Published in Steven J. Kronowitz, John R. Benson, Maurizio B. Nava, Oncoplastic and Reconstructive Management of the Breast, 2020
Steven J. Kronowitz, John R. Benson, Maurizio B. Nava
The mastectomy stage was carried out 3–4 weeks later, or in the event of neoadjuvant chemotherapy, 4–6 weeks after completion of chemotherapy. Nipple-sparing mastectomy was performed either through the vertical limb or the inframammary fold scar and implant-based reconstruction was carried out at the same time. This technique is most suited to women undergoing risk-reducing surgery and although it can be used in women prior to neoadjuvant systemic therapy, it is not widely offered in the setting of cancer.
Breast and ovarian cancer
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Women found to be carrying a BRCA gene mutation should be offered annual breast screening from a young age, initially by MRI and then by both MRI and mammography. However, some women want to be more proactive in managing their risk, in which case they can consider chemoprevention with drugs such as tamoxifen, raloxifene or anastrozole, or risk-reducing surgery. Chemoprevention may reduce a woman's risk of developing breast cancer by up to 40%, although the reduction appears to be confined to oestrogen receptor (ER) positive cancers, and since BRCA1 gene carriers have a propensity to develop ER negative cancers, the benefits in this group are less clear.
Prophylactic Amyloidectomy? Reasons for Caution in Moving to Biomarker-Based Dementia Interventions in Asymptomatic Individuals
Published in AJOB Neuroscience, 2021
Such questions are complex and resist easy answers, but there are relevant models to lean on. For instance, the clinical use of genetic biomarkers for breast and ovarian cancer risk, such as BRCA1 and BRCA2, has led some individuals who perceive themselves at risk to pursue prophylactic or risk-reducing surgery, recently popularized by the actress Angelia Jolie (Basu et al. 2021), despite controversy about the preventative benefit of these interventions. A consensus has emerged at least around a model of shared decision-making between patients and clinicians based on a principle of respect for autonomy (Eisinger 2007). Shared decision-making involves discussion of medical and psychosocial risks of surgery and contextualization of the perceived risk-reduction benefit from prophylactic procedures (Yang et al. 2016). Ultimately, a principle of respect for autonomy supports individuals who perceive themselves at risk being the locus of decision-making about tradeoffs of biomarker-based risk-reduction.
Impact of genetic counseling on the uptake of contralateral prophylactic mastectomy among younger women with breast cancer
Published in Acta Oncologica, 2020
Thorkild Terkelsen, Hanne Rønning, Anne-Bine Skytte
Women found to carry a pathogenic variant in BRCA1 or BRCA2 (BRCA carrier) were counseled as having an elevated risk of breast cancer. Non-BRCA carriers were counseled according to three familial breast cancer risk categories defined by the Danish Breast Cancer Cooperative Group: high risk, moderate risk, and population risk. According to the national guidelines, patients were perceived to have a high risk if they belonged to a family in which breast cancer and ovarian cancer had occurred in the same patient, first degree relatives, or second degree relatives through a male. Also the rare case of a male breast cancer history would indicate a familial high risk. If a family member, such as the patient herself, had been diagnosed with breast cancer before 40 years of age, the patient was assessed as having at least familial moderate risk. For other patients, the familial risk was assessed on the basis of the calculated lifetime risk for an unaffected relative to the patient using the BOADICEA model [16]. A simplified flow diagram illustrates the genetic risk stratification (Figure 1). The national guidelines stated that risk-reducing surgery could be discussed with a woman who was either a BRCA carrier or had a familial high risk of breast cancer. In clinical practice, such patients were entitled to opt to undergo CPM; however, the treatment was not specifically recommended.
Catalysts towards cancer risk management action: A longitudinal study of reproductive-aged women with BRCA1/2 mutations
Published in Journal of Psychosocial Oncology, 2018
Allison Werner-Lin, Anne L. Ersig, Rebecca Mueller, Jennifer L. Young, Lindsey M. Hoskins, Ria Desai, Mark H. Greene
The birth of the last hoped-for child presented an intriguing turning point in women's risk management trajectories. At T1, many anticipated this moment would trigger completion of risk-reducing surgery. Yet at T2, several who had completed childbearing indefinitely postponed surgery to enable breastfeeding and early parenting. I'm a full-time stay-at-home mom. The kids need to be old enough to get in and out of bed by themselves. My oldest one was climbing in and out of bed by 19 months. So yeah, it probably wouldn't be until after that.If she falls down and skins her knee she wants Mommy to hold her. I can't do that if I've got tubes coming out of me and tissue expanders and I can't lift her.