Breast cancer risk among patients with Klinefelter syndrome.

06:00 EST 19th January 2011 | BioPortfolio

Summary of "Breast cancer risk among patients with Klinefelter syndrome."

Aim:  To evaluate male breast cancer (MBC) risk among patients with Klinefelter syndrome (KS) and relate this to possible biological explanations. Methods:  A literature review was conducted to identify case series and epidemiologic studies that have evaluated MBC risk among patients with KS. Results:  Case reports without expected values have often led to false impressions of risk. Problems include that a diagnosis of cancer can prompt a karyotypic evaluation and that many cases of KS are unrecognized, resulting in incomplete denominators. Few carefully conducted epidemiologic studies have been undertaken given that both KS and MBC are rare events. The largest study found 19.2- and 57.8-fold increases in incidence and mortality, respectively, with particularly high risks among 47,XXY mosaics. These risks were still approximately 70% lower than among females, contradicting case reports that patients with KS have breast cancer rates similar to females. Altered hormone levels (especially the ratio of oestrogens to androgens), administration of exogenous androgens, gynaecomastia and genetic factors have been offered as possible explanations for the high risks. Conclusions:  Additional well-designed epidemiologic studies are needed to clarify which patients with KS are at a high risk of developing MBC and to distinguish between possible predisposing factors, including altered endogenous hormones.


Hormonal and Reproductive Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Executive Boulevard, Rockville, MD, USA.

Journal Details

This article was published in the following journal.

Name: Acta paediatrica (Oslo, Norway : 1992)
ISSN: 1651-2227


PubMed Articles [47860 Associated PubMed Articles listed on BioPortfolio]

Metabolic Syndrome and Breast Cancer Risk: A Case-Cohort Study Nested in a Multicentre Italian Cohort.

Metabolic syndrome (defined as at least three among abdominal obesity, high blood triglycerides, low high-density lipoprotein cholesterol, high blood glucose, and high blood pressure) is emerging as a...

Committee Opinion No. 634: Hereditary Cancer Syndromes and Risk Assessment.

A hereditary cancer syndrome is a genetic predisposition to certain types of cancer, often with onset at an early age, caused by inherited mutations in one or more genes. Cases of cancer commonly enco...

Next-Generation Gene Sequencing: Looking Beyond Hereditary Breast and Ovarian Cancer.

Oncology nurses have long been aware of the significance of recognizing patients' hereditary risk of cancer. Obtaining an accurate family history is an integral part of patient assessment and has help...

Association between the BsmI Polymorphism in the Vitamin D Receptor Gene and Breast Cancer Risk: Results from a Pakistani Case-Control Study.

Vitamin D is postulated to decrease the risk of breast cancer by inhibiting cell proliferation via the vitamin D receptor (VDR). Two common single nucleotide polymorphisms (SNPs) in the VDR gene, rs15...

The Genetics of Breast Cancer: What the Surgical Oncologist Needs to Know.

This article summarizes the impact of germline predisposition to breast cancer on the surgical management of breast cancer and breast cancer risk. Surgical implications of germline predisposition to b...

Clinical Trials [13332 Associated Clinical Trials listed on BioPortfolio]

Thrombosis and Neurocognition in Klinefelter Syndrome

The haemostatic balance and neurocognitive capability of men with Klinefelter syndrome is compared to healthy controls by using specific biochemical assays for coagulation and fibrinolysis...

Androgen Effect on Klinefelter Syndrome Motor Outcome

The purpose of this study is to evaluate the effects of low-dose androgen on the motor and cognitive development of boys with Klinefelter syndrome.

Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter Syndrome

The purpose of this study is to investigate the following: 1. Whether Klinefelter Syndrome is associated with altered total and regional brain volumes and altered brain activity. ...

Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome

Klinefelter syndrome (KS) is the most common sex-chromosome disorder with a prevalence of one in 660 men and is a frequent cause of hypogonadism and infertility. It is caused by the presen...

Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome

Klinefelter syndrome, a congenital chromosomal abnormality with one or more extra X chromosomes, occurs in out of 400 live male births. The majority of Klinefelter men present with a 47, X...

Medical and Biotech [MESH] Definitions

A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.

A synthetic retinoid that is used orally as a chemopreventive against prostate cancer and in women at risk of developing contralateral breast cancer. It is also effective as an antineoplastic agent.

Carbohydrate antigen elevated in patients with tumors of the breast, ovary, lung, and prostate as well as other disorders. The mucin is expressed normally by most glandular epithelia but shows particularly increased expression in the breast at lactation and in malignancy. It is thus an established serum marker for breast cancer.

Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells.

The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)


Relevant Topics

Women's Health
Women's Health - key topics include breast cancer, pregnancy, menopause, stroke Follow and track Women's Health News on BioPortfolio: Women's Health News RSS Women'...

Biological Therapy
Biological therapy involves the use of living organisms, substances derived from living organisms, or laboratory-produced versions of such substances to treat disease. Some biological therapies for cancer use vaccines or bacteria to stimulate the body&rs...

Searches Linking to this Article