7 results on '"Catarina Bexiga"'
Search Results
2. Vismodegib for treatment of periocular basal cell carcinoma – 6-year experience from a tertiary cancer center
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Catarina Xavier, Edgar Lopes, Catarina Bexiga, Cecília Moura, Emanuel Gouveia, and Ana Filipa Duarte
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Hedgehog proteins ,Skin neoplasms ,Carcinoma, basal cell ,Dermatology ,RL1-803 - Abstract
Abstract Background: The treatment of advanced periocular basal cell carcinomas becomes a challenge as surgery may involve highly mutilating procedures. Vismodegib is the first selective hedgehog inhibitor approved for the treatment of locally advanced tumors or metastatic disease. Objective: Analyze the results of treatment with vismodegib for advanced periocular basal cell carcinomas in a real-life setting of a reference center between 2014 and 2020. Methods: Retrospective longitudinal study. The patient’s demographic profile, comorbidities, tumor characteristics, and treatment outcomes were analyzed. Results: A total of 13 patients were included. Median follow-up and treatment duration were 15.9 and 10.5 months, respectively. Objective clinical response rate was 76.9%: 30.8% had a complete response and 46.2% a partial response. The median duration of response was 13 months. Progressive disease was observed in 38.5% of cases, with a median of 19 months after the beginning of treatment. Eighty-four percent of the patients had at least one adverse event, and 61.54% needed to interrupt treatment temporarily or permanently to increase tolerability. Study limitations: Being a retrospective study in a real-life setting, the evaluation of objective clinical response was subjective to physician appreciation. Conclusion: Vismodegib is a safe and effective treatment for locally advanced basal cell carcinoma. To prevent recurrences, the drug should be used continually when tolerated. The role of neoadjuvant vismodegib before surgery is being investigated and might add an important step in searching for a definitive treatment for these cases.
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- 2022
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3. Abstract P3-07-04: Geographical patterns of pathogenic genetic variants associated with hereditary breast, ovarian and prostate cancer (HBOPC) in Portugal
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Inês Calvinho de Oliveira, Sofia Fragoso, Sidónia Santos, Teresa Duarte, Catarina Bexiga, Beatriz Mira, Isália Miguel, Ana Luís, and Fátima Vaz
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Cancer Research ,Oncology - Abstract
Introduction:HBOPC syndrome is mostly associated with germline pathogenic and likely pathogenic variants (PV) in BRCA1 and BRCA2 genes. Other high and moderate penetrance genes are increasingly diagnosed in these families, especially after implementation of NGS methodologies in clinical practice. In this study we analyze the global and regional mutational patterns of Portuguese HBOPC families, looking for associated phenotypes and possible clusters of specific PV. Methods:Observational study including all index patients (pts) with identified PV in genes associated with breast, ovarian and prostate cancers in our Centre, between 2000 and 2020. Geographical mapping of variants was done regarding residency and birth origin. Main cancer diagnoses of pts were also registered. Results:Between January 2000 and December 2020, 5233 index pts consented in genetic testing and 658 (12.6%) tested positive for a PV associated with HBOPC syndrome (84 were non-Portuguese residents). Regarding these 658 positive pts, 537 (81.6%) had breast (BC), 113 (17.2%) had ovarian and 9 (1.4%) had prostate cancer. BRCA2 was the most mutated gene (302 pts, 45.9%), followed by BRCA1 (179 pts, 27.2%), while PV in other genes were diagnosed in 177 (26.9%) pts (CHEK2, ATM, PALB2, RAD51C, TP53, RAD51D, MUTYH, BRIP1, RAD50, BLM and PTEN PV were identified in 54 (8.2%), 27 (4.1%), 21 (3.2%), 17 (2.6%), 16 (2.4%), 14 (2.1%), 11 (1.7%), 7 (1.1%), 4 (0.6%), 4 (0.6%) and 2 (0.3%) pts, respectively). PV in MSH2, MLH1, FAM175A and MRE11A were each described in 1 (0.15%) pt, all diagnosed with BC. Double heterozygosity was identified in 7 (1.1%) pts: BRCA1/BRCA2, BRCA1/CHEK2, BRCA2/PALB2, BRCA2/CHEK2, ATM/PALB2, ATM/RAD51C and MUTYH/MSH2. BRCA2 PV were more frequent than BRCA1 in all Portuguese regions except Algarve, where BRCA2 frequency was lower (BRCA1:BRCA2 > 1). The known BRCA2 founder c.156_157insAlu was the most recurrently diagnosed PV: 36.4% of all BRCA2 families including 8 non-Portuguese families (6 from Angola, 1 from France and 1 from Brazil). Further analysis revealed 3 possible regional clusters: 1- Duplication of exon 12 (previously described as ins6KbEx13) was the only BRCA1 identified in Algarve, with 90.9% of all families with this PV originating in this region; 2- 75% of all BRCA2 c.6405_6409del; p.(Asn2135LysfsTer3) families have origin in Alentejo, being the third most diagnosed BRCA event in the region, after c.156_157insAlu and c.5266dup; p.(Gln1756ProfsTer74); 3- c.3331_3334del; (p.Gln1111AsnfsTer5) was the only BRCA1 PV identified in Madeira (6 families). When comparing Portuguese and foreign pts, similar rates of breast, ovarian and prostate cancers were found (81.5%, 17.2% and 1.2% versus 82.1%, 16.7% and 2.4%, respectively). Most foreign residents lived in Lisboa and Vale do Tejo (82,1%) and their BRCA1:BRCA2 ratio was 0,87 (versus 0,46 in Portuguese pts), while in Algarve (13,5%) their BRCA1:BRCA2 was even higher (1.5 versus 0,69 in Portuguese pts). Discussion and conclusion:Our study confirms that BRCA2 PV are more frequent than BRCA1 PV in Portugal, with the exception of the Algarve region. Our data suggests that foreign pts accessing genetic testing in this region may have imbalanced the BRCA1:BRCA2 ratio, while for the whole population the imbalance towards BRCA2 is associated with the known founder BRCA2 c.156_157insAlu. Our data identified 2 BRCA1 (Algarve and Madeira) and 1 BRCA2 (Alentejo) geographical clusters. Citation Format: Inês Calvinho de Oliveira, Sofia Fragoso, Sidónia Santos, Teresa Duarte, Catarina Bexiga, Beatriz Mira, Isália Miguel, Ana Luís, Fátima Vaz. Geographical patterns of pathogenic genetic variants associated with hereditary breast, ovarian and prostate cancer (HBOPC) in Portugal [abstract]. In: Proceedings of the 2021 San Antonio Breast Cancer Symposium; 2021 Dec 7-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2022;82(4 Suppl):Abstract nr P3-07-04.
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- 2022
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4. Abstract P6-08-17: When BRCA2-breast cancer is more prevalent than BRCA1-breast cancer: Prospective follow-up data from a multidisciplinary program
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Fátima Vaz, Catarina Bexiga, Cecília Moura, J. Parreira, Pedro Louro, S. Bento, Patrícia Pereira, I.C. Oliveira, Priscila Nejo, Ana Clara, S. Santos, Paula Rodrigues, A. Luís, Alexandra Mayer, S. Fragoso, and I. Miguel
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0301 basic medicine ,Cancer Research ,medicine.medical_specialty ,endocrine system diseases ,Population ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,Internal medicine ,medicine ,skin and connective tissue diseases ,education ,CHEK2 ,Genetic testing ,education.field_of_study ,medicine.diagnostic_test ,business.industry ,Cancer ,medicine.disease ,030104 developmental biology ,First cancer diagnosis ,Oncology ,Family/Relatives ,030220 oncology & carcinogenesis ,Cohort ,business - Abstract
PURPOSERecent studies questioned the role of BRCA2 as a prognostic factor. Although differences between clinicopathological characteristics of BRCA1-breast cancer (BC) and BRCA2-BC have been described, long-term follow-up data related to prognosis and survival is lacking. We report the analysis of our cohort of BRCA1/2-BC patients (pts) included in our multidisciplinary program. This cohort includes BRCA2-BC c.156_157insAlu carriers, which was previously described as a Portuguese founder mutation. PATIENTS AND METHODS All pts underwent comprehensive BRCA1/2 testing. Data was obtained from all BRCA1/2 pts included in prospective follow up from January 2000 to June 2019, with BC as first cancer diagnosis. Follow-up started after genetic testing. RESULTSFrom 5504 cases (4021 index, 1483 family relatives) that consented on BRCA1/2 testing, 613 BRCA1/2 were cancer pts, of which 478 (78%) had BC as their first cancer diagnosis. These were mostly BRCA2 (n=321, 67.2% vs BRCA1 n=156, 32.6%) females (95.2%), and 129 (40%) of all BRCA2 cases were 156_157insAlu. Three pts had double pathogenic mutations (BRCA1+CHEK2, BRCA2+CHEK2 and BRCA1+BRCA2). Median follow-up was 4.3 yrs (0-17.8).Median age at testing was 50.3 (21-84) yrs and median age at BC diagnosis was significantly higher for BRCA2-BC (45.9 (21-80) vs 42.7 yrs (28-65), p CONCLUSIONIn our population, there is a higher prevalence of BRCA2-BC than BRCA1-BC, not completely explained by the founder effect of c.156_157insAlu. For the described follow up, TTR was longer for BRCA2-BC pts but survival was not different between the two groups, even though BRCA2 status was associated with more subsequent cancer diagnoses. As expected, preventive surgeries were inversely associated with second cancers. Data on prognosis and survival needs to be confirmed with longer follow up. *- includes pts previously treated with conservative surgery Citation Format: Catarina Bexiga, Priscila Nejo, Inês Oliveira, Paula Rodrigues, Patrícia Pereira, Sofia Fragoso, Alexandra Mayer, Joana Parreira, Sidónia Santos, Pedro Louro, Ana Luís, Sandra Bento, Isália Miguel, Cecília Moura, Ana Clara, Fátima Vaz. When BRCA2-breast cancer is more prevalent than BRCA1-breast cancer: Prospective follow-up data from a multidisciplinary program [abstract]. In: Proceedings of the 2019 San Antonio Breast Cancer Symposium; 2019 Dec 10-14; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2020;80(4 Suppl):Abstract nr P6-08-17.
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- 2020
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5. Abstract P6-08-36: Uptake of preventive surgeries in a prospective cohort of BRCA1/2 healthy women
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Priscila Nejo, S. Fragoso, Catarina Bexiga, Ana T. Luís, Ana Clara, Pedro Louro, Fátima Vaz, Conceição Souto Moura, S. Santos, and Alexandra Mayer
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Cancer Research ,education.field_of_study ,medicine.medical_specialty ,Hysterectomy ,endocrine system diseases ,medicine.diagnostic_test ,business.industry ,medicine.medical_treatment ,Population ,Cancer ,medicine.disease ,Breast cancer ,Oncology ,Median follow-up ,Internal medicine ,medicine ,Mammography ,Breast MRI ,skin and connective tissue diseases ,education ,Prospective cohort study ,business - Abstract
PURPOSE Previous studies referred to uptake of preventive surgeries (PS) in BRCA1/2 healthy carriers in ages older than recommended (35yrs). Since our population has a higher prevalence of BRCA2 mutations (usually associated with an older age at Breast Cancer diagnosis) we proposed to study ages and type of preventive surgeries uptaken by BRCA1/2 women included in prospective follow up. PATIENTS AND METHODS Review of all healthy (without a previous cancer diagnosis) BRCA1/2 carriers included in our program from January 2000 to June 2019. Follow-up started after genetic testing. Men were excluded from this analysis. RESULTS A total of 5504 cases (4021 index, 1483 relatives) consented for BRCA1/2 testing. We identified 238 healthy BRCA1/2 carriers (BRCA2:158 (66.4%) vs BRCA1 80 (33.6%). Median age at genetic diagnosis was 38.9 yrs (16-78). With a median follow up of 4yrs, bilateral adnexectomy (BA) was the most frequent PS observed (45 BRCA2 and 28 BRCA1 cases) with 15/45 % and 6/28% undergoing BA and bilateral mastectomy (BM) simultaneously. Bilateral mastectomy was uptaken by 14% BRCA2 women and 10% BRCA1 women. Median ages for PS were: BRCA2-AB: 47,4 (28-71), BRCA1-AB: 46.7 (37-59); BRCA2-BM: 36.6 (31-52) and BRCA1-BM:42.5 (30-55). Isolated BM was observed in 7 BRCA2 cases and 2 BRCA1 cases. Most of women submitted to BA, also underwent total hysterectomy (HT): 65% for BRCA2 and 61% BRCA1. Most cases (88% non-adherent) adhere to radiological surveillance, 111/238 with annual breast S MRI and mammography. All pts submitted to BM are prescribed at least one breast MRI to check for remaining breast tissue. CONCLUSION Our data reveal that even if, in general, BRCA1/2 women uptake preventive surgeries at a later age that recommended, we observed a strong adherence to radiological (most with breast MRI) surveillance. BA is the PS most frequently observed but, surprisingly for healthy women, most cases also underwent TH. BRCA2 healthy women uptaken bilateral mastectomy at an earlier age than BRCA1 women. It´s possible that BRCA1 women, when deciding for BM also decided for BA. Citation Format: Priscila Nejo, Catarina Bexiga, S. Fragoso, A Mayer, S Santos, P Louro, A Luis, C Moura, Ana Clara, Fatima Vaz. Uptake of preventive surgeries in a prospective cohort of BRCA1/2 healthy women [abstract]. In: Proceedings of the 2019 San Antonio Breast Cancer Symposium; 2019 Dec 10-14; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2020;80(4 Suppl):Abstract nr P6-08-36.
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- 2020
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6. 765P Prognosis of BRCA1 and BRCA2 ovarian cancer: Prospective follow-up data from a multidisciplinary program
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Paula Rodrigues, A.C. Luís, I. Miguel, S. Fragoso, Beatriz Mira, C. Pereira, Catarina Bexiga, Fátima Vaz, T. Duarte, S. Santos, A. Opinião, I.C. Oliveira, and P. Antunes Meireles
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Oncology ,medicine.medical_specialty ,Multidisciplinary approach ,business.industry ,Internal medicine ,medicine ,Hematology ,business ,Ovarian cancer ,medicine.disease - Published
- 2021
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7. 766P Mapping BRCA1/2 variants in ovarian cancer patients: Contribution of a BRCA2 founder effect
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I.C. Oliveira, Paula Rodrigues, S. Fragoso, S. Bento, P. Antunes Meireles, Catarina Bexiga, Beatriz Mira, A. Opinião, I. Miguel, A.C. Luís, T. Duarte, S. Santos, and Fátima Vaz
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Oncology ,medicine.medical_specialty ,business.industry ,Internal medicine ,medicine ,Hematology ,Ovarian cancer ,medicine.disease ,business ,Founder effect - Published
- 2021
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