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Simple Summary: Approximately 10% of breast cancer (BC) cases are hereditary, and germline pathogenic variants in BRCA1 and BRCA2 genes account for 20% of familial BC cases. Long-term follow-up data related to the prognosis and survival of either BRCA1 or BRCA2 BC patients are conflicting. The aim of this study is to report the analysis of our cohort of BRCA1/2 BC patients included in prospective follow-up after genetic testing. We compared clinicopathological characteristics and prognosis between BC patients with BRCA1 and BRCA2 and a control group without germline PV (BRCA-wt). The presence of BRCA mutation confers a higher risk of relapse and death in patients with BC in the Portuguese population. Prophylactic mastectomy and preventive salpingo-oophorectomy confer lower incidence of relapse and longer median invasive disease-free survival and overall survival, respectively. Background: Germline pathogenic variants (PV) in BRCA1 and BRCA2 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 BRCA1 BC patients, yielded conflicting results regarding BRCA1/2 BC outcomes. In the Portuguese population, BRCA2 BC is diagnosed more frequently than BRCA1 BC. We aimed to compare clinicopathological characteristics and prognosis between BC patients with BRCA1 and BRCA2 mutations and a control group without germline PV (BRCA-wt). Furthermore, we explored the frequency and outcomes of risk-reducing surgeries in BRCA-mutated patients. Methods: Prospective follow-up was proposed for patients with a diagnosed BRCA1/2 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 BRCA cohort. Results: For a mean follow-up time of 113.0 months, BRCA-wt patients showed longer time to recurrence (p = 0.002) and longer OS (p < 0.001). Among patients with BRCA mutations, no statistical differences were found, although patients with BRCA2 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 BRCA 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. [ABSTRACT FROM AUTHOR]

Background: Risk-reducing surgeries are an option for cancer risk management in BRCA1/2 individuals. However, while adnexectomy is commonly recommended in breast cancer (BC) survivors, risk-reducing bilateral breast surgery (RRBBS) is controversial in ovarian cancer (OC) survivors due to relapse rates and mortality. Methods: We conducted a retrospective analysis of BRCA1/2-OC survivors, with OC as first cancer diagnosis. Results: Median age at OC diagnosis for the 69 BRCA1/2-OC survivors was 54 years. Median overall survival was 8 years, being significantly higher for BRCA2 patients than for BRCA1 patients (p = 0.011). Nine patients (13.2%) developed BC at a median age of 61 years. The mean overall BC-free survival was 15.5 years (median not reached). Eight patients (11.8%) underwent bilateral mastectomy (5 simultaneous with BC treatment; 3 RRBBS) at a median age of 56.5 years. The median time from OC to bilateral mastectomy/RRBBS was 5.5 years. Conclusions: This study adds evidence regarding a lower BC risk after BRCA1/2-OC and higher survival for BRCA2-OC patients. A comprehensive analysis of the competing risks of OC mortality and recurrence against the risk of BC should be individually addressed. Surgical BC risk management may be considered for longer BRCA1/2-OC disease-free survivors. Ultimately, these decisions should always be tailored to patients' characteristics and preferences. [ABSTRACT FROM AUTHOR]

Purpose: Treatment strategies for low rectal cancer have been evolving toward achieving less treatment morbidity with the same oncological success—we aimed to assess the results of the new watch and wait (W&W) strategy in our cohort. Methods: A tertiary care cohort study was conducted. New patients with rectal adenocarcinoma up to 6 cm from the anal margin, cM0, locally staged higher than cT1N0, evaluated between November 2014 and October 2018, were included. All 93 patients received neoadjuvant radiotherapy ± chemotherapy. Re-evaluation was planned 8–12 weeks after the end of treatment. Patients showing clinical complete response (cCR) were given the choice of either to proceed to surgery or to enter W&W. Results: Of the 93 patients, 82.8% were re-evaluated and 20.8% had cCR. Patients in clinical stages II/III were significantly less likely to achieve cCR than those in stage I (p = 0.017). After a mean follow-up of 17.44 months, there were 4 regrowths in the 16 patients under W&W, all submitted to R0 surgery, ypN0; there were no deaths or local recurrences; one patient with regrowth had distant recurrence. Sixty patients underwent direct surgery after a mean follow-up of 16.23 months; 3 patients had local and distant recurrences; 7 others had only distant recurrences; there were 8 deaths. There were no statistically significant differences between patients under W&W and patients who underwent direct surgery regarding local or distant recurrences, or death (p > 0.9; p = 0.44; p = 0.19, respectively). Conclusion: The W&W strategy for low rectal cancer achieved the same oncological outcomes as the traditional strategy while sparing some patients from surgery. [ABSTRACT FROM AUTHOR]

Anorectal melanoma is an uncommon cancer with a poor prognosis. We aim to describe the clinical presentation, treatment and outcome of patients with anorectal melanoma in our center. Retrospective study of patients with anorectal melanoma treated between 2000 and 2011 at a cancer center in Lisbon. Ten patients were identified, eight females and two males, with median age 70.5 years (32-79). Symptoms at presentation were rectal bleeding (8), anal pain (4) and discomfort (3). Tumor location was anal (6), rectal (3) and anorectal transition (2). Seven patients had surgery: abdomino-pelvic resection (5) and local resection (2). Among the two patients who underwent local resection, one was an incidental finding in a hemorrhoidectomy specimen. This patient had further adjuvant chemotherapy (dacarbazine). Three patients had distant metastasis at diagnosis, one had chemotherapy and two had best supportive care. Six of the seven operated patients relapsed in a median time of 5.4 months: distant metastasis (4), local recurrence (1), both (1). The two local relapse patients had surgical widening of resection margins (1) and radiotherapy (2). One-year survival was 30 %; 3-year survival was 20 %. Anorectal melanoma has a poor prognosis due to advanced disease at presentation and aggressive course, with relapse in almost all operated patients. Treatment guidelines have not been established due to the lack of randomized studies. However, recent studies show that sphincter-sparing surgical procedures along with low dose intensity radiotherapy seem to achieve a local control similar to abdomino-pelvic resection. No systemic therapy is considered standard of care for advanced disease, and regimens are extrapolated from cutaneous melanoma experience. [ABSTRACT FROM AUTHOR]