Comparison between genotype and phenotype identifies a high-risk population carryingBRCA1 mutations
- Laura Cortesi
- Daniela Turchetti
- Chiara Bertoni
- Roberta Bellei
- Lucia Mangone
- Vittorio Silingardi
- VINCETI, Marco
- FEDERICO, Massimo
- FERRARI, Sergio
DOIAbstract
Hereditary breast carcinomas constitute about 10% of all malignant mammary tumors, but the selection criteria to identify a high-risk population carrying BRCAI mutations are not yet well-defined. We have collected $1 pedigrees of familial breast cancer, 16 pedigrees of familial breast and ovarian cancer, and 30 cases of early-onset breast cancer (<35 years of age) without any family history of breast cancer. The index cases of the 97 selected families were further subdivided into three groups based on histopathological parameters: group A (n = 19) was characterized by tumor grade III, negative estrogen and progesterone receptors, and high proliferative rate; group B (n = 20) was characterized by grade I-II tumors, positive hormonal receptor...
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