CHEK2 1100delC and male breast cancer in the Netherlands

Wasielewski, Marijke; Bakker, Michael A. den; Ouweland, Ans van den; Gelder, Marion E. Meijer–van; Portengen, H.; Klijn, Jan G.M.; Meijers-Heijboer, Hanne; Foekens, John A.; Schutte, Mieke

doi:10.1007/s10549-008-0162-7

Cited by 57 publications

(43 citation statements)

References 24 publications

(59 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is reported that 6% to 38% of patients with breast cancer have clinical gynecomasty. These rates are not different from those of the normal population (18). A positive family history increases the relative risk 2.5 times, and 20% of men with breast cancer have a first degree relative with the same disease (4,19).…”

mentioning

confidence: 78%

Male Breast Cancer

Yalaza¹,

2016

View full text Add to dashboard Cite

IntroductionOver the past two decades, major improvements have been achieved in the understanding of breast cancer, and cure can be offered if the disease is diagnosed at an early stage. However, the disease is more often diagnosed at more advanced stages (3 or 4) in men, in contrast to women. Its rarity among men as well as lack of awareness leads to its detection at later stages. Randomized studies cannot be carried on due to the low incidence of breast cancer in males, with only a few published prospective therapeutic studies in the literature. While the information on male breast cancer (MBC) was obtained from retrospective studies, the recommendations for treatment were derived from studies conducted on female breast cancer (1). This review presents the frequency, etiology, clinical-pathological characteristics and treatment approaches for the rare MBC. Epidemiology-EtiologyMale breast cancer is rare and constitutes 0.5-1% of all patients with breast cancer. The reason of the low incidence rate in men is the relatively low amount of breast tissue along with the difference in their hormonal environment. Even though breast tissue is less in men as compared to women, the factors that influence malignant changes are similar. The Surveillance, Epidemiology and End Result (SEER) Program reported that the incidence of breast cancer was highest at ages 52-71 during 1973-2000, whereas the peak incidence in males was 71 years (2). In fact, some authors state that MBC imitate the behavioral pattern of post-menopausal female breast cancer. The incidence of breast cancer in males and females has increased in the past 25 years. International Association of Cancer Registries (IACR) emphasized this increase and stated that the incidence of female breast cancer increased by 20%, while breast cancer-related deaths increased by 14%. The SEER data also showed that the rate that was 1.1 for 100.000 men in the mid-1970s and raised to 1.44 for 100.000 men by 2010 (3). In USA, 2240 men were diagnosed with breast cancer within the year 2013. The lifetime rate of diagnosis with male breast cancer is 1 in 1000. According to the IACR Turkey data, 0.37% of all cancer types among males are breast cancer (4, 5). IACR has published its new cancer estimates for the year 2012. The most recent cancer estimates for 28 cancer types in 184 countries, which record cancer data, have been made available for users on the GLOBOCAN 2012 website (6).The rate of presentation with advanced stage breast cancer has been decreasing in men. As a matter of fact, a study conducted in 1995 reported the rate of Stage 1-2 disease on diagnosis as 70%, whereas it was reported as 67% in 2010 and 82% in 2015 (7-9). MBC constitutes less than 1% of male cancers and it has a varying rate of incidence across different geographies and ethnic groups (10, 11). Its annual prevalence in Europe is 1 in 10.000 men and these cases constitute less than 1% of all patients with breast cancer (4). However, this rate is above 6% in Central African countries (12). This relatively hig...

show abstract

mentioning

confidence: 78%

Male Breast Cancer

Yalaza¹,

2016

View full text Add to dashboard Cite

show abstract

“…A DNA damage checkpoint can detect the DNA damage in the cell cycle and lead to cell cycle arrest to provide enough time to repair the damage (35). Many studies have reported that CHEK2 gene mutations could increase the risk of some cancers (20,22,27,(36)(37)(38). Many investigators have researched this area with special emphasis on CHEK2 1100delC.…”

Section: Discussionmentioning

confidence: 99%

Association of CHEK2 polymorphisms with the efficacy of platinum-based chemotherapy for advanced non-small-cell lung cancer in Chinese never-smoking women

Liu

Yang

et al. 2016

J. Thorac. Dis.

View full text Add to dashboard Cite

Background: Cell cycle checkpoint kinase 2 (CHEK2) plays an essential role in the repair of DNA damage.Single nucleotide polymorphisms (SNPs) in DNA repair genes are thought to influence treatment effects and survival of cancer patients. This study aimed to investigate the relationship between polymorphisms in the CHEK2 gene and efficacy of platinum-based doublet chemotherapy in never-smoking Chinese female patients with advanced non-small-cell lung cancer (NSCLC).Methods: Using DNA from blood samples of 272 Chinese advanced NSCLC non-smoking female patients treated with first-line platinum-based chemotherapy, we have analyzed the relationships between four SNPs in the CHEK2 gene and clinical outcomes.Results: We found that overall survival (OS) was significantly associated with CHEK2 rs4035540 (Log-Rank P=0.020), as well as the CHEK2 rs4035540 dominant model (Log-Rank P=0.026), especially in the lung adenocarcinoma group. After multivariate analysis, patients with rs4035540 A/G genotype had a significantly better OS than those with the G/G genotype (HR =0.67, 95% CI, 0.48-0.93; P=0.016). In the toxicity analysis, it was observed that patients with the CHEK2 rs4035540 A/A genotype had a higher risk of gastrointestinal toxicity than the G/G genotype group (P=0.009). However, there are no significant associations between chemotherapy treatments and genetic variations. Conclusions:Our findings indicate that SNPs in CHEK2 are related to Chinese advanced NSCLC never-smoking female patients receiving platinum-based doublet chemotherapy in China. Patients with rs4035540 A/G genotype have a better OS. And patients with rs4035540 A/A genotype have a higher risk of gastrointestinal toxicity. These results point to a direction for predicting the prognosis for Chinese neversmoking NSCLC female patients. However, there are no significant associations between chemotherapy treatments and SNPs in CHEK2, which need more samples to the further study.

show abstract

“…Moderately penetrant genes often included on breast 58 and may imply increased, but as yet undefined, risks for other tumor types [59][60][61][62][63][64][65][66] . Mutations in these genes justify increased screening, especially in situations where there is a personal or family history of breast cancer.…”

Section: Breast and Ovarian Cancermentioning

confidence: 99%

Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing

Stanislaw¹,

Xue²,

Wilcox³

2016

Cancer Biology &Amp; Medicine

View full text Add to dashboard Cite

The introduction of next-generation sequencing (NGS) technology in testing for hereditary cancer susceptibility allows testing of multiple cancer susceptibility genes simultaneously. While there are many potential benefits to utilizing this technology in the hereditary cancer clinic, including efficiency of time and cost, there are also important limitations that must be considered. The best panel for the given clinical situation should be selected to minimize the number of variants of unknown significance. The inclusion in panels of low penetrance or newly identified genes without specific actionability can be problematic for interpretation. Genetic counselors are an essential part of the hereditary cancer risk assessment team, helping the medical team select the most appropriate test and interpret the often complex results. Genetic counselors obtain an extended family history, counsel patients on the available tests and the potential implications of results for themselves and their family members (pre-test counseling), explain to patients the implications of the test results (post-test counseling), and assist in testing family members at risk.

show abstract

CHEK2 1100delC and male breast cancer in the Netherlands

Cited by 57 publications

References 24 publications

Male Breast Cancer

Male Breast Cancer

Association of CHEK2 polymorphisms with the efficacy of platinum-based chemotherapy for advanced non-small-cell lung cancer in Chinese never-smoking women

Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing

Contact Info

Product

Resources

About