P7 BRCA1 and BRCA2 germline mutations in early-onset breast carcinoma patients

Conti, A.; Benedetti, M.; Stagi, L; Mondini, P; Pasini, Barbara; Pensotti, Valeria; Spatti, Gianbattista; Rilke, F; Radice, P.

doi:10.1016/s0959-8049(97)89225-8

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“…Mutations in BRCA1 account for approximately 6% to 16% of breast cancer cases that occur before the age of 36 years [15,21,22,[26][27][28][29], with mutations in BRCA2 accounting for a smaller [24,30] or similar [28] percentage. In defined populations with founder mutations, the contribution of these genes to early-onset breast cancer may be higher.…”

Section: Age Of Onset and Family History Of Breast/ovarian Cancermentioning

confidence: 99%

Clinico-pathological characteristics of BRCA1- and BRCA2-related breast cancer

Chappuis

Nethercot

Foulkes

2000

Semin. Surg. Oncol.

135

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Mutations in the BRCA1 and BRCA2 genes confer greater risk of developing breast cancer. Early age at onset is generally considered an indicator of genetic susceptibility to breast cancer. We determined whether tumor pathologic features and clinical features differ in patients with and without BRCA2 mutations, the study was carried out on thirty breast cancer patients, divided as fifteen with familial breast cancer and fifteen with sporadic breast cancer. Seven cases of the familial breast cancer patients showed BRCA2 mutaion. According to this study, there was statistically significant negative correlation between frequency BRCA2 gene mutations and female age, there was negative correlation between BRCA2 gene mutations and ER receptor, PR receptor and HER2/neu status (positivity and negativity) and positive correlation between gene mutations and the pathological grade of the tumor. However, this correlation did not reach a significant level. Three of the seven BRCA2 patients weRe of triple negative molecular type (from total 5patient had triple negative type among the thirty patients). The ER positive BRCA2 patients were mainly luminal B.

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