Long-term survival and BRCA status in male breast cancer: a retrospective single-center analysis

Gargiulo, Piera; Pensabene, Matilde; Milano, Monica; Arpino, Grazia; Giuliano, Mario; Forestieri, Valeria; Condello, Caterina; Lauria, Rossella; Placido, Sabino De

doi:10.1186/s12885-016-2414-y

Cited by 32 publications

(37 citation statements)

References 45 publications

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“…4 ) with TWIST1 methylation (HR:4.7, 95% CI:2.0–27.5, p = 0.01) also being associated with a significantly shorter survival in the BRCA2 MBC subgroup. Because BRCA2 tumours have higher methylation overall and also worse survival than other MBC cohorts [ 45 , 46 ], we also evaluated survival within the BRCA2 carriers, and observed a trend towards worse outcome with higher AMI in this sub-group (HR:3.3, 95% CI: 0.8–9.7, p = 0.1). Hypermethylation of FOXC1 (HR:2.3, 95% CI:0.99–8.1, p = 0.053) showed a strong trend towards worse DSS; hypermethylation of other genes showed no prognostic information.…”

Section: Resultsmentioning

confidence: 99%

BRCA2 carriers with male breast cancer show elevated tumour methylation

et al. 2017

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BackgroundMale breast cancer (MBC) represents a poorly characterised group of tumours, the management of which is largely based on practices established for female breast cancer. However, recent studies demonstrate biological and molecular differences likely to impact on tumour behaviour and therefore patient outcome. The aim of this study was to investigate methylation of a panel of commonly methylated breast cancer genes in familial MBCs.Methods60 tumours from 3 BRCA1 and 25 BRCA2 male mutation carriers and 32 males from BRCAX families were assessed for promoter methylation by methylation-sensitive high resolution melting in a panel of 10 genes (RASSF1A, TWIST1, APC, WIF1, MAL, RARβ, CDH1, RUNX3, FOXC1 and GSTP1). An average methylation index (AMI) was calculated for each case comprising the average of the methylation of the 10 genes tested as an indicator of overall tumour promoter region methylation. Promoter hypermethylation and AMI were correlated with BRCA carrier mutation status and clinicopathological parameters including tumour stage, grade, histological subtype and disease specific survival.ResultsTumours arising in BRCA2 mutation carriers showed significantly higher methylation of candidate genes, than those arising in non-BRCA2 familial MBCs (average AMI 23.6 vs 16.6, p = 0.01, 45% of genes hypermethylated vs 34%, p < 0.01). RARβ methylation and AMI-high status were significantly associated with tumour size (p = 0.01 and p = 0.02 respectively), RUNX3 methylation with invasive carcinoma of no special type (94% vs 69%, p = 0.046) and RASSF1A methylation with coexistence of high grade ductal carcinoma in situ (33% vs 6%, p = 0.02). Cluster analysis showed MBCs arising in BRCA2 mutation carriers were characterised by RASSF1A, WIF1, RARβ and GTSP1 methylation (p = 0.02) whereas methylation in BRCAX tumours showed no clear clustering to particular genes. TWIST1 methylation (p = 0.001) and AMI (p = 0.01) were prognostic for disease specific survival.ConclusionsIncreased methylation defines a subset of familial MBC and with AMI may be a useful prognostic marker. Methylation might be predictive of response to novel therapeutics that are currently under investigation in other cancer types.Electronic supplementary materialThe online version of this article (10.1186/s12885-017-3632-7) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

BRCA2 carriers with male breast cancer show elevated tumour methylation

et al. 2017

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“…[ 4 ] For male breast cancer, the main treatment mode is axillary lymph node dissection for clinically node-positive patients or sentinel lymph node surgery based on sentinel lymph node pathology. [ 5 , 6 ] These invasive operations often have a considerable impact on the quality of life of patients, which damaged their psychosocial function even after breast reconstruction surgery. [ 7 ] As a result, some patients may refuse the recommended surgery.…”

Section: Introductionmentioning

confidence: 99%

Refusal of cancer-directed surgery in male breast cancer

Wang¹,

Chen²,

Huang³

et al. 2021

Medicine

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It has been reported that some male breast cancer patients may refuse the recommended surgery, but the incidence rate in the United States is not clear. The purpose of this study was to identify the incidence, trends, risk factors, and eventual survival outcomes associated with the rejection of such cancer-directed surgery. We collected data on 5860 patients with male breast cancer (MBC) from the Surveillance, Epidemiology, and End Results database, including 50 patients refusing surgery as recommended. Kaplan–Meier survival analysis and Cox proportional hazard regression were used to identify the effects of refusing surgery on cancer-specific survival (CSS) and overall survival (OS). The association between acceptance or rejection of surgery and mortality were estimated by nested Cox proportional hazards regression models with adjustment for age, race, clinical characteristics, and radiation. Of the 5860 patients identified, 50 (0.9%) refused surgery. Old age (≥65: hazard ratio [HR]: 3.056, 95% confidence interval [CI]: 1.738–5.374, P < .0001), higher AJCC stage (III: HR: 3.283, 95% CI: 2.134–5.050, P < .0001, IV: HR: 14.237, 95% CI: 8.367–24.226, P < .0001), progesterone receptor status (negative: HR: 1.633, 95% CI: 1.007–2.648, P = .047) were considered risk factors. Compared with the surgery group, the refusal group was associated with a poorer prognosis in both OS and CSS (χ 2 = 94.81, P < .001, χ 2 = 140.4, P < .001). Moreover, significant differences were also observed in OS and CSS among 1:3 matched groups ( P = .0002, P < .001). Compared with the patients undergoing surgery, the patients who refused the cancer-directed surgery had poor prognosis in the total survival period, particularly in stage II and III. The survival benefit for undergoing surgery remained even after adjustment, which indicates the importance of surgical treatment before an advanced stage for male breast cancer patients.

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“…Up to 14% of men diagnosed with breast cancer are found to harbor a BRCA 2 mutation [ 8 ]. Two prior studies have reported worse prognosis in male breast cancer patients with a deleterious BRCA 1/2 mutation compared to those without a mutation [ 9 , 10 ]. However, both studies were limited by their small sample size.…”

Section: Introductionmentioning

confidence: 99%

Male BRCA mutation carriers: clinical characteristics and cancer spectrum

et al. 2018

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BackgroundMutations in BRCA1 and BRCA2 (BRCA1/2) genes are associated with an increased risk of breast and ovarian cancers in women. The cancer characteristics of men with BRCA1/2 mutations are less well studied. This study describes the unique cancer characteristics of male BRCA1/2 mutation carriers at our institution.MethodsWe performed a retrospective chart review on male patients who were seen between January 2004 and December 2014 and tested positive for a BRCA1/2 mutation. We evaluated clinical characteristics, pathology findings, treatment selection and survival.ResultsA total of 102 male patients were identified who tested positive for a BRCA1/2 deleterious mutation. Of these 102 patients, 33 (32%) had a diagnosis of cancer. Of these 33 patients with cancer, the majority (20 patients) were found to carry a BRCA2 mutation. Median age of cancer diagnosis was 65 years (Range: 35-75 years). Of the 33 patients diagnosed with cancer, 8 had two or more cancers, including 1 patient who had 4 cancers. Prostate cancer was the most commonly diagnosed cancer, seen in 13 patients, 11 of whom were BRCA2 positive. These cancers tended to have higher Gleason scores and elevated PSA levels. The majority of these prostate cancer patients were alive and disease free at a median follow-up of 7.4 years. Male breast cancer was the second most common cancer seen in 9 patients, all of whom were BRCA2 positive. The majority of these cancers were high grade, hormone receptor positive and associated with lymph node metastases. There were no breast cancer related deaths. Other cancers included bladder cancer, pancreatic cancer, melanoma and other skin cancers.ConclusionsThis study describes the cancer characteristics and outcomes of male BRCA1/2 mutation carriers. A third of male BRCA1/2 mutation carriers had a diagnosis of cancer. A significant number of patients (mostly BRCA2 mutation positive) developed multiple cancers, which may have important implications for cancer screening and prevention. Despite having high grade histology and advanced stage at diagnosis, male BRCA1/2 mutation carriers with breast and prostate cancer demonstrated a favorable 5-year survival.

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Long-term survival and BRCA status in male breast cancer: a retrospective single-center analysis

Cited by 32 publications

References 45 publications

BRCA2 carriers with male breast cancer show elevated tumour methylation

BRCA2 carriers with male breast cancer show elevated tumour methylation

Refusal of cancer-directed surgery in male breast cancer

Male BRCA mutation carriers: clinical characteristics and cancer spectrum

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