Hereditary breast cancer

Orpha code: 227535OMIM code: 613399

Definition

A rare genetic, malignant breast tumor characterized by early onset breast cancer in association with a germline mutation. Tumors arising in carriers of <i>BRCA1</i> and <i>BRCA2</i> mutations differ morphologically and genetically from each other, as well as from sporadic breast cancers. Most <i>BRCA1</i>-associated tumors are invasive ductal adenocarcinomas of no special type, typically of higher grade than sporadic tumors, and more often negative for hormone receptors. In addition, more cases with features of typical or atypical medullary carcinoma are seen in these patients. Likewise, <i>BRCA2</i>-associated tumors tend to be of higher grade than sporadic ones, although their phenotype is similar. They show a low frequency of HER-2 expression.

Disease data
Classification

Disease

Synonyms
Familial breast cancer
Rodzinny rak piersi
Familial breast carcinoma
Hereditary breast carcinoma
ORPHA code
227535
OMIM code
613399
ICD10 code
C50.0
ICD11 code
2C6Y

No additional description.

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