Publications by authors named "Sandra Bento"

Access to genetic testing and counselling in remote areas such as the Madeira archipelago, in the Northern Atlantic Ocean, may be complex. Different counselling methods, including telegenetics, should be explored. In this study, we characterise the Hereditary Breast/Ovarian Cancer (HBOC) families with Madeira ancestry enrolled in our programme.

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Male breast cancer is rare and has been frequently associated with cancer predisposing variants, particularly in and genes. pathogenic variants may also increase risk for breast and other cancers. However, less than 10 cases relating mutations and male breast cancer have been previously reported.

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Background: Hereditary breast and ovary cancer syndrome affects both genders but little is known about the uptake of genetic services by men. The objective of this study is to characterise the male population counselled through a multidisciplinary breast/ovarian program.

Methods: Descriptive analysis of male patients counselled from January 2000 to December 2015.

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Background: Although kidney transplant candidates receive education regarding transplantation and donation, little is known about the extent of their comprehension. We aimed to identify factors that affect patient comprehension of important concepts regarding kidney transplantation.

Material And Methods: We performed a cross-sectional survey of consecutive adult kidney transplant candidates seen at our center between July 2013 and October 2013 for initial evaluation (n=100) or for reevaluation (n=117).

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Case reports are presented for three patients with metastatic breast cancer who received first-line treatment with bevacizumab in combination with taxanes in clinical trials. Two patients showed peak reductions in lesion size of 49 and 70%, respectively. In one patient, subsequent treatment with bevacizumab in combination with capecitabine [Xeloda (after discontinuation of paclitaxel due to asthenia)] yielded peak reductions in target lesion size of 78%.

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Purpose: BRCA2 rearrangements are rare genetic events. A large BRCA2 genomic insertion was recurrently observed in our participants, and we sought to characterize it at the molecular and phenotypic level.

Patients And Methods: We studied 210 high-risk breast/ovarian cancer families.

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