CHEK2 1100delC Variant and Breast Cancer Risk in Caucasians: A Meta-analysis Based on 25 Studies with 29,154 Cases and 37,064 Controls

Yang, Yuan; Zhang, Fan; Wang, Yan; Liu, Shengchun

doi:10.7314/apjcp.2012.13.7.3501

Cited by 21 publications

(11 citation statements)

References 32 publications

(44 reference statements)

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“…NBN (Nijmegen breakage syndrome) has been shown to be associated with 3 fold increased risk for breast cancer in carriers of a 5-bp deletion (Bogdanova et al, 2008). Other Intermediate risk genes include RAD50, CHEK2, BRIP1, PALB2, FANCD1 and ATM (Ripperger et al, 2009;Yang et al, 2012). These genes have been associated with an odds ratio above 2, when there is a heterozygous germline mutation.…”

Section: Introductionmentioning

confidence: 99%

Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers

Rajkumar

Meenakumari²,

Mani³

et al. 2015

Asian Pacific Journal of Cancer Prevention

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Background: We earlier used PCR-dHPLC for mutation analysis of BRCA1 and BRCA2. In this article we report application of targeted resequencing of 30 genes involved in hereditary cancers. Materials and Methods: A total of 91 patient samples were analysed using a panel of 30 genes in the Illumina HiScan SQ system. CLCBio was used for mapping reads to the reference sequences as well as for quality-based variant detection. All the deleterious mutations were then reconfirmed using Sanger sequencing. Kaplan Meier analysis was conducted to assess the effect of deleterious mutations on disease free and overall survival. Results: Seventy four of the 91 samples had been run earlier using the PCR-dHPLC and no deleterious mutations had been detected while 17 samples were tested for the first time. A total of 24 deleterious mutations were detected, 11 in BRCA1, 4 in BRCA2, 5 in p53, one each in RAD50, RAD52, ATM and TP53BP1. Some 19 deleterious mutations were seen in patients who had been tested earlier with PCR-dHPLC [19/74] and 5/17 in the samples tested for the first time, Together with our earlier detected 21 deleterious mutations in BRCA1 and BRCA2, we now had 45 mutations in 44 patients. BRCA1c.68_69delAG;p.Glu23ValfsX16 mutation was the most common, seen in 10/44 patients. Kaplan Meier survival analysis did not show any difference in disease free and overall survival in the patients with and without deleterious mutations. Conclusions: The NGS platform is more sensitive and cost effective in detecting mutations in genes involved in hereditary breast and/or ovarian cancers.

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Section: Introductionmentioning

confidence: 99%

Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers

Rajkumar

Meenakumari²,

Mani³

et al. 2015

Asian Pacific Journal of Cancer Prevention

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“…Another meta-analysis by Yang et al . confirmed the significant association between the CHEK2 1100delC variant and female breast cancer risk, particularly in familial breast cancer cases among Caucasians [ 5 ].…”

Section: Introductionmentioning

confidence: 60%

A Case of Male Breast Cancer Patient with CHEK2*1100delC Mutation

Nguyen¹,

Tavana²,

Rios³

et al. 2020

Cureus

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Male breast cancer (MBC) is a rare disease that accounts for less than one percent of all breast cancers. The association between BRCA1 and BRCA2 mutations and MBC has been well-established; recent data suggest that CHEK2 1100delC heterozygosity is also associated with an increased risk of MBC. Herein, we present the case of a 47-year-old male who was initially diagnosed with bilateral symmetric gynecomastia on a diagnostic mammogram performed for right breast palpable lump. Sixteen months after his diagnosis of gynecomastia, he presented with enlarging right breast palpable lumps and underwent a diagnostic mammogram and breast ultrasound. Ultrasound-guided biopsies were performed on the right breast mass and axillary lymphadenopathy. Pathology revealed right breast invasive ductal carcinoma (IDC) and right axillary metastatic lymphadenopathy. Subsequent genetic testing found CHEK2*1100delC mutation. This case report focuses on the presentation, diagnosis, and management of breast cancer, as well as long-term cancer screening in the setting of CHEK2 mutation in a relatively young male patient.

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“…Several breast cancer susceptibility genes, such as BRAC1, BRAC2 [43] and CHEK2 [44], [45], have been detected in recent decades. Additionally, Conlon et al [46] suggested that the effect of smoking on breast cancer may be differentially modified by the N-acetyltransferase 2 (NAT2) phenotype.…”

Section: Discussionmentioning

confidence: 99%

Lack of an Association between Passive Smoking and Incidence of Female Breast Cancer in Non-Smokers: Evidence from 10 Prospective Cohort Studies

et al. 2013

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BackgroundSeveral case-control studies have suggested that passive smoking may increase the incidence of female breast cancer. However, the results of cohort studies have been inconsistent in establishing an association. The present study evaluated the association between passive smoking and incidence of female breast cancer through a meta-analysis of prospective cohort studies.MethodsRelevant articles published before August 2012 were identified by searching the electronic databases PubMed, Embase, and Web of Science. Pooled relative risks (RRs) were determined with either a fixed or random effects model and were used to assess the strength of the association. Sensitivity and subgroup analyses according to ethnicity, menopausal status, and the period and place of exposure to passive smoking were also performed.ResultsTen prospective cohort studies involving 782 534 female non-smokers were included in the meta-analysis and 14 831 breast cancer cases were detected. Compared with the women without exposure to passive smoking, the overall combined RR of breast cancer was 1.01 (95% confidence interval: 0.96 to 1.06, P = 0.73) among women with exposure to passive smoking. Similar results were achieved through the subgroup analyses. No evidence of publication bias was observed.ConclusionThe results suggest that passive smoking may not be associated with increased incidence of breast cancer. However, the present conclusion should be considered carefully and confirmed with further studies.

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CHEK2 1100delC Variant and Breast Cancer Risk in Caucasians: A Meta-analysis Based on 25 Studies with 29,154 Cases and 37,064 Controls

Cited by 21 publications

References 32 publications

Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers

Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers

A Case of Male Breast Cancer Patient with CHEK2*1100delC Mutation

Lack of an Association between Passive Smoking and Incidence of Female Breast Cancer in Non-Smokers: Evidence from 10 Prospective Cohort Studies

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