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Breast cancer in a Hispanic patient with Werner syndrome.

ABSTRACT: Werner Syndrome is a rare autosomal recessive condition characterized by premature aging and increased risk of malignancies due to gene mutations associated with DNA stability. We present the first case report of a 29-year-old Hispanic female with WS diagnosed with breast cancer. Diagnostic mammography and ultrasound, breast MRI and PET examinations revealed two lesions biopsy proven as invasive ductal carcinoma. The patient underwent neoadjuvant chemotherapy and radical mastectomy. Recurrence occurred 10 months postoperatively with molecular analysis demonstrating TP53 mutations. The multifactorial assessment of breast cancer in this case study is crucial towards optimizing screening, diagnosis and management of this disease in patients with WS.

SUBMITTER: Santos MM

PROVIDER: S-EPMC10852053 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature

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Breast cancer in a Hispanic patient with Werner syndrome.

Santos Manuel Menendez MM Baerga Carlos Gonzalez CG Lamsal Sanjay S Engel Corey C Ozdemir Savas S

Journal of radiology case reports 20231031 10

Werner Syndrome is a rare autosomal recessive condition characterized by premature aging and increased risk of malignancies due to gene mutations associated with DNA stability. We present the first case report of a 29-year-old Hispanic female with WS diagnosed with breast cancer. Diagnostic mammography and ultrasound, breast MRI and PET examinations revealed two lesions biopsy proven as invasive ductal carcinoma. The patient underwent neoadjuvant chemotherapy and radical mastectomy. Recurrence o ...[more]

PMID: 38343885

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