Publications by authors named "M Pilar Santamarina"

Article Synopsis
  • Carriers of BRCA1/2 pathogenic variants were studied to determine their risk of developing cancers during childhood, adolescence, and young adulthood (CAYA).
  • Analysis of data from over 47,000 individuals revealed that while young women with BRCA1/2 mutations had a significantly increased risk of breast cancer in their 20s, no increased risk was found for other types of CAYA cancers.
  • The study concluded that there's little evidence to support routine genetic testing for children of BRCA1/2 carriers or for young cancer patients, as the overall cancer risk appears low aside from breast cancer in young women.
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Transmissible cancers are a rare phenomenon in which cancer cells are passed between individuals, leading to the development of neoplasia in the host organism. Transmissible cancers have been identified in three independent clonal lineages in mammals and eight different clonal lineages in bivalves. This study focused on the development of a multiplex PCR assay for the detection of two types of bivalve transmissible neoplasias (BTN) of cockles Cerastoderma edule (CedBTN1 and CedBTN2).

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The spontaneous disappearance of a segment of bone in a short period without the existence of a tumoral disease that justifies it is an exceptional event. We report the case of an older adult in whom the upper epiphysis of the right humerus and part of the acromion disappeared in a period of 3 weeks in the absence of a malignant tumor. Bone biopsy revealed osteoclasts, lymphatic vessels, and blood vessels.

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The evaluation of kidney function is usually performed through the estimation of the glomerular filtration rate and urine analysis. The evaluation of the kidney morphology through an image complements and enriches this information. However, many of the applications of current imaging techniques are unknown to clinicians.

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Multiple non-cystic renal lesions are occasionally discovered during imaging for various reasons and poses a diagnostic challenge to the practicing radiologist. These lesions may appear as a primary or dominant imaging finding or may be an additional abnormality in the setting of multiorgan involvement. Awareness of the imaging appearance of the various entities presenting as renal lesions integrated with associated extrarenal imaging findings along with clinical information is crucial for a proper diagnostic approach and patient work-up.

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