Epithelial lesions in prophylactic mastectomy specimens from women with BRCA mutations

Abstract

BACKGROUNDIt has been suggested that BRCA‐associated breast carcinoma may often lack a detectable preinvasive phase. To investigate this hypothesis, the authors compared the prevalence of histopathologic lesions in prophylactic mastectomy (PM) specimens from women with BRCA mutations and in mastectomy specimens obtained at autopsy from an age and race‐matched comparison group without a known cancer predisposition.METHODSAll specimens from women with a deleterious BRCA1 or BRCA2 mutation who participated in an ongoing follow‐up study and underwent PM at Memorial Sloan‐Kettering Cancer Center between November 1, 1987 and May 31, 2001 were reviewed. For each case, breast tissue from two age and race‐matched women without a known cancer predisposition was also reviewed. The prevalence of benign, premalignant, and cancerous lesions was compared.RESULTSMastectomy specimens from 24 cases and 48 comparison subjects were reviewed. Ductal carcinoma in situ (DCIS), atypical ductal hyperplasia (ADH), and atypical lobular hyperplasia (ALH) were all more common in PM specimens from women with BRCA mutations than in those from the comparison group. The odds ratio for the detection of any high‐risk lesion (DCIS, lobular carcinoma in situ, ADH, or ALH) in specimens from BRCA mutation carriers was 12.7 (95% confidence interval, 3.1–52.4; P < 0.001).CONCLUSIONSLesions associated with an increased risk of subsequent malignancy are more common in PM specimens from women with BRCA mutations than in breast tissue obtained at autopsy from unaffected women without a known predisposition. This finding suggests that hereditary breast carcinoma has a preinvasive phase that may be detectable with aggressive surveillance. Cancer 2003;97:1601–8. © 2003 American Cancer Society.DOI 10.1002/cncr.11225

Breast magnetic resonance image screening and ductal lavage in women at high genetic risk for breast carcinoma

“…40 Two groups have evaluated the prevalence of high-risk lesions (including ALH, atypical ductal hyperplasia, lobular carcinoma in situ, and DCIS) in prophylactic mastectomy specimens from women who were at increased genetic risk and found incidences of 46% and 57%. 41,42 Those study populations were comparable to ours with regard to age, BRCA1/ BRCA2 mutation status, and prior risk reduction with tamoxifen and/or BSO. In the current study, it was found that 4 of 41 patients (9.8%) had DCIS or highrisk findings, including ALH and radial scars.…”

Histological features of extratumoral breast lesions as a predictive factor of familial breast cancer

“…According to Veronesi et al (28), higher histological grade and lymph node invasion were significantly more frequent in patients with high genetic risk. Moreover, we also found that patients with higher risk mutation proved to be significantly associated with the presence of vascular peri- ONCOLOGY REPORTS 23: 1641-1645, 2010 Table II. Risk of BRCA gene mutations in relation to clinicopathological features.…”

Pathology and gene expression of hereditary breast tumors associated with BRCA1, BRCA2 and CHEK2 gene mutations

“…Atypical lobular and ductal hyperplasias were the more frequent lesions, followed by lobular and ductal carcinoma in situ (DCIS) Kauff et al, 2003). In a recent report , high-risk histopathology lesions were found in almost all (14 out of 15 women) of women older than age 40 years at high genetic risk of breast cancer with no demonstrable BRCA1/2 mutation but only 50% in BRCA1/2 mutation carriers.…”