Male breast cancer, age and sex chromosome aneuploidy

Jacobs, Patricia A.; Maloney, Vivienne; Cooke, Rosie; Crolla, John A.; Ashworth, Alan; Swerdlow, Anthony

doi:10.1038/bjc.2012.577

Cited by 18 publications

(14 citation statements)

References 17 publications

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“…The data here shown are consistent with those presented by Jacobs et al [18] who demonstrated that sex chromosome aneuploidy in non-dividing nuclei of peripheral blood cells occurs frequently in adult men and increases with age. The data presented by Jacobs et al 18] did not completely clarify the relation between sex chromosome aneuploidy and occurrence of MBC, but suggested a possible role in favouring the neoplastic transformation.…”

Section: Accepted M Manuscriptsupporting

confidence: 93%

X chromosome gain in male breast cancer

et al. 2015

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Male breast cancer (MBC) is an uncommon disease whose molecular profile is not well known. X chromosome gain has been described as a marker of aggressive behavior in female breast cancer. The aim of this study is to investigate the role of the X chromosome in male breast cancer. Twenty cases of male breast invasive ductal carcinoma were retrieved and compared with 10 cases of gynecomastia. Cases were tested by fluorescence in situ hybridization to assess a cytogenetic profile for the X chromosome. The X chromosome status was compared with histopathologic features and stage at presentation. All MBC cases harbored an X chromosome gain (100%) in a variable percentage of neoplastic cells, ranging from 31% to 85% (mean, 59%). On the contrary, all cases of gynecomastia showed wild X chromosome asset. The patients' age at surgery and tumor grading showed a statistically significant correlation (P = .0188-.04), with the percentages of neoplastic cells showing an X chromosome gain. These data suggest that this X chromosome gain plays a role in the neoplastic transformation of male breast epithelial cells. This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. These data suggest that this X chromosome gain plays a role in the neoplastic transformation of male breast epithelial cells. A C C E P T E D M A N U S C R I P T ACCEPTED MANUSCRIPT X CHROMOSOME GAIN IN MALE BREAST CANCER

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Section: Accepted M Manuscriptsupporting

confidence: 93%

X chromosome gain in male breast cancer

et al. 2015

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“…Since age and genomic instability are associated with failure of DNA repair and accumulation of DNA damage in the genome, many authors have evaluated the association between SCE frequency and age, but data in the literature are controversial (4,14,19,(22)(23)(24). In accordance with other studies, we found no correlation between age and SCE frequency, either in familial or in sporadic patients (4,14).…”

Section: Familial N=22supporting

confidence: 85%

Sister chromatid exchange: A possible approach to characterize familial breast cancer patients

et al. 2014

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Sister chromatid exchange (SCE) frequency is widely used as an indicator of spontaneous chromosome instability. We investigated SCE frequency in the peripheral blood lymphocytes of familial and sporadic breast cancer (BC) patients from the Apulian Caucasian Population. Eighty-one patients were enrolled: 22 with familial history and 59 sporadic patients. Eleven familial patients had an 'increased risk' of BRCA gene mutation (BRCAPro ≥10%) and were candidates for BRCA1 and BRCA2 mutation analysis. For these reasons, we stratified the 22 familial BC patients in two group: 'lowrisk' (n=11) and 'high-risk' (n=11) patients for BRCA gene mutations. Two of these 11 'high-risk' patients (18%) had pathogenic mutations in the BRCA2 gene. The subjects were not cigarette smokers or alcohol or drug users, and had no genetic disorders or chronic diseases affecting the family. Our results showed a significant increase in SCE frequency in the familial (5.305±1.088/metaphase) (P<0.0001) and the sporadic patients (3.943±0.552) (P<0.0001) compared to the controls (3.197±0.649). We found that the SCE frequency was always significantly higher in familial than in sporadic patients, regardless of their clinicopathological characteristics. Moreover, we observed that the frequency of SCE in BRCA2 mutation carrier patients was higher compared to patients without mutations in BRCA1/2 genes. These findings highlight an intrinsic genomic instability in familial patients, and we suggest that SCE frequency may be used as a biomarker to better characterize familial BC.

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“…Loss of Y-chromosome (LOY) has previously been described in several solid tumors, including esophageal carcinoma, pancreatic cancer, urothelial bladder cancer, colorectal cancer, and prostate cancer [6][7][8][9][10][11]. Early case reports described the presence of LOY in male BC tissue [10][11][12]. A larger, more recent study reported LOY in 5 out of 31 patients with male BC.…”

Section: Introductionmentioning

confidence: 99%

Loss of Y-Chromosome during Male Breast Carcinogenesis

Agahozo

Timmermans

Sleddens

et al. 2020

Cancers

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Loss of Y-chromosome (LOY) is associated with increased cancer mortality in males. The prevalence of LOY in male breast cancer (BC) is unknown. The aim of this study is to assess the presence and prognostic effect of LOY during male BC progression. We included male BC patients diagnosed between 1989 and 2009 (n = 796). A tissue microarray (TMA) was constructed to perform immunohistochemistry and fluorescent in situ hybridization (FISH), using an X and Y probe. We also performed this FISH on a selected number of patients using whole tissue slides to study LOY during progression from ductal carcinoma in situ (DCIS) to invasive BC. In total, LOY was present in 12.7% (n = 92) of cases, whereby LOY was associated with ER and PR negative tumors (p = 0.017 and p = 0.01). LOY was not associated with the outcome. Using whole slides including invasive BC and adjacent DCIS (n = 22), we detected a concordant LOY status between both components in 17 patients. In conclusion, LOY is an early event in male breast carcinogenesis, which generally starts at the DCIS stage and is associated with ER and PR negative tumors.

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Male breast cancer, age and sex chromosome aneuploidy

Cited by 18 publications

References 17 publications

X chromosome gain in male breast cancer

X chromosome gain in male breast cancer

Sister chromatid exchange: A possible approach to characterize familial breast cancer patients

Loss of Y-Chromosome during Male Breast Carcinogenesis

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