X chromosome gain in male breast cancer

Oto, Enrico Di; Monti, Valentina; Cucchi, M.C.; Masetti, Riccardo; Varga, Zsuzsanna; Foschini, Maria Pia

doi:10.1016/j.humpath.2015.08.008

Cited by 16 publications

(14 citation statements)

References 15 publications

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“…Among aneuploidies of solid tumors, a near-triploid karyotype is often a hallmark of chemotherapy resistance and thus of increased survival potential [29,30]. We paid attention to the fact that among the numerical sex chromosome aberrations in the tumors of male patients, the assertive acquisition of an extra X-chromosome and frequent loss of the Y-chromosome have been reported in several cases [31,32,33,34,35,36,37], particularly in association with triploidy in the male germ cell tumor seminoma [38].…”

Section: Introductionmentioning

confidence: 99%

Meta-Analysis of Cancer Triploidy: Rearrangements of Genome Complements in Male Human Tumors Are Characterized by XXY Karyotypes

Vainshelbaum

Zayakin

Kleina

et al. 2019

Genes

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Triploidy in cancer is associated with poor prognosis, but its origins remain unclear. Here, we attempted to differentiate between random chromosomal and whole-genome origins of cancer triploidy. In silico meta-analysis was performed on 15 male malignant and five benign tumor cohorts (2928 karyotypes) extracted from the Mitelman Database, comparing their ploidy and combinations of sex chromosomes. A distinct near-triploid fraction was observed in all malignant tumor types, and was especially high in seminoma. For all tumor types, X-chromosome doubling, predominantly observed as XXY, correlated strongly with the near-triploid state (r ≈ 0.9, p < 0.001), negatively correlated with near-diploidy, and did not correlate with near-tetraploidy. A smaller near-triploid component with a doubled X-chromosome was also present in three of the five benign tumor types, especially notable in colon adenoma. Principal component analysis revealed a non-random correlation structure shaping the X-chromosome disomy distribution across all tumor types. We suggest that doubling of the maternal genome followed by pedogamic fusion with a paternal genome (a possible mimic of the fertilization aberration, 69, XXY digyny) associated with meiotic reprogramming may be responsible for the observed rearrangements of genome complements leading to cancer triploidy. The relatively frequent loss of the Y-chromosome results as a secondary factor from chromosome instability.

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Section: Introductionmentioning

confidence: 99%

Meta-Analysis of Cancer Triploidy: Rearrangements of Genome Complements in Male Human Tumors Are Characterized by XXY Karyotypes

Vainshelbaum

Zayakin

Kleina

et al. 2019

Genes

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“…Overall, about 15% of all breast cancer cases in men are associated with mutations in the BRCA2 gene [ 4 ]. Other genetic factors may be involved in the genesis of male breast cancers such as P53 gene mutation, Klinfelter syndrome but their role is not well documented in the literature [ 11 , 12 ].…”

Section: Discussionmentioning

confidence: 99%

Breast cancer in men: a series of 45 cases and literature review

Methamem¹,

Ghadhab²,

Hidar³

et al. 2020

Pan Afr Med J

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Immunohistochemical profiling studies carried out on female breast cancer has been extrapolated to breast cancer in males. Although, we do not know if it really reflects the reality of this pathology in males patients since the studies are often retrospective and studying a limited number of patients. The objectives was to describe particualrities of breast cancer in males and analyze the evolutionary characteristics and study the molecular profile of this rare disease in Tunisian men. It is a retrospective, descriptive and analytic study carried out over a period of 15 years in the departments of gynecology-obstetrics, general surgery, medical carcinology and anatomopathology of the Farhat Hached Teaching Hospital in Sousse, Tunisia. Fourty five patients were included.The most common histological type was invasive ductal carcinoma (95% of our patients). Our series was divided into 3 immunohistochemical groups with a majority group: luminal A (68.2%), followed by luminal B (27.3%) and only one patient had a triple negative type tumor (4.5%).The Overall survival rate (OSR) at 5 and 10 years was 83.2% and 76.8% respectively. Recurrence-free survival (RFS) at 5 and 10 years was 64.5% and 58.6%, respectively. The OSR was influenced significantly by age, clinical and histological size of the tumor, the presence of distant metastases and the occurrence of recurrence. Recurrence-free survival (RFS) was influenced by age, clinical and histological size of the tumor, and infiltration of the dermis. Breast cancer in males has similarities with women's breast cancer. However, it remains diagnosed at a later stage.

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“…Normally, one X chromosome of female cell undergoes inactivation (with about 15% of genes escape inactivation) for dosage compensation [ 33 ]. Although rarely studied in GC, it is suggested that gain of an extra X chromosome supports tumor progression in other cancers [ 34 , 35 ]. Recently, Xu et al [ 36 ] suggested theoretical modeling of chromosomal evolution for free-living cell lines.…”

Section: Discussionmentioning

confidence: 99%

Sex Chromosomes Are Severely Disrupted in Gastric Cancer Cell Lines

Min

Kim

et al. 2020

IJMS

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Sex has not received enough attention as an important biological variable in basic research, even though the sex of cells often affects cell proliferation, differentiation, apoptosis, and response to stimulation. Knowing and considering the sex of cells used in basic research is essential as preclinical and clinical studies are planned based on basic research results. Cell lines derived from tumor have been widely used for proof-of-concept experiments. However, cell lines may have limitations in testing the effect of sex on cell level, as chromosomal abnormality is the single most characteristic feature of tumor. To examine the status of sex chromosomes in a cell line, 12 commercially available gastric carcinoma (GC) cell lines were analyzed using several different methods. Loss of Y chromosome (LOY) accompanied with X chromosome duplication was found in three (SNU-484, KATO III, and MKN-1) out of the six male-derived cell lines, while one cell line (SNU-638) showed at least partial deletion in the Y chromosome. Two (SNU-5 and MKN-28) out of six female-derived cell lines showed a loss of one X chromosome, while SNU-620 gained one extra copy of the X chromosome, resulting in an XXX karyotype. We found that simple polymerase chain reaction (PCR)-based sex determination gives a clue for LOY for male-derived cells, but it does not provide detailed information for the gain or loss of the X chromosome. Our results suggest that carefully examining the sex chromosome status of cell lines is necessary before using them to test the effect of sex on cell level.

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X chromosome gain in male breast cancer

Cited by 16 publications

References 15 publications

Meta-Analysis of Cancer Triploidy: Rearrangements of Genome Complements in Male Human Tumors Are Characterized by XXY Karyotypes

Meta-Analysis of Cancer Triploidy: Rearrangements of Genome Complements in Male Human Tumors Are Characterized by XXY Karyotypes

Breast cancer in men: a series of 45 cases and literature review

Sex Chromosomes Are Severely Disrupted in Gastric Cancer Cell Lines

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