Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

Thompson, Ella R.; Gorringe, Kylie L.; Rowley, Simone M.; Wong‐Brown, Michelle W.; McInerny, Simone; Li, Na; Trainer, Alison H.; Devereux, Lisa; Doyle, Maria A.; Li, Jason; Lupat, Richard; Delatycki, Martin B.; Mitchell, Gillian; James, Paul; Scott, Rodney J.; Campbell, Ian

doi:10.1186/s13058-015-0627-7

Cited by 37 publications

(42 citation statements)

References 48 publications

(58 reference statements)

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“…PALB2 encodes a BRCA2‐interacting protein in the DNA repair process . Deleterious PALB2 mutations were found in familial breast cancer with a prevalence of about 1% to 4% and .1% to 1% in unselected breast cancer . In our study, only 1 novel deleterious mutation (.34%) was detected in PALB2 .…”

Section: Discussionmentioning

confidence: 43%

“…The PALB2 c.3054G>C variant was a recurrent mutation found in 3 cases (1.03%) in this study. This variant has also been observed in Australian patients (1/1998), Korean patients (1/235), Asian population in Malaysia and Singapore (1/122) . The prevalence of this variant ( PALB2 c.3054G>C) in Chinese population seemed to be higher than other ethnic groups.…”

Section: Discussionmentioning

confidence: 80%

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Mutation screening of 10 cancer susceptibility genes in unselected breast cancer patients

Xie

Chen

et al. 2017

Clinical Genetics

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Variants of cancer susceptibility genes other than BRCA1/2 have been proved to be associated with increased risks of breast cancer. This study was performed to investigate the spectrum and prevalence of mutations in 10 cancer susceptibility genes in paired tumor/normal tissues of 292 unselected Chinese breast cancer patients. We performed an analysis of germline and somatic variants in ATM, CDH1, CHEK2, ESR1, GATA3, MAP3K1, MSH2, PALB2, RB1 and STK11 genes by integrating microfluidic PCR-based target enrichment and next-generation sequencing technologies. In total, 3 germline and 25 somatic deleterious mutations were found among 27 patients (9.25%), and 17 of them were novel mutations. Most deleterious mutations were prevalent in luminal A invasive breast cancer (P = .014). We also observed 83 variants of uncertain significance (VUS) in 100 patients (34.25%), 23 of which were predicted to be deleterious by in silico prediction programs (MetaSVM and MetaLR). VUS carriers had higher positive rate of lymph node metastasis than non-carriers (P = .008) and were predominantly present in ER+ tumors (P = .018). Our findings would enhance the understanding of the molecular mechanisms of breast cancer in Chinese population.

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Section: Discussionmentioning

confidence: 43%

Section: Discussionmentioning

confidence: 80%

Mutation screening of 10 cancer susceptibility genes in unselected breast cancer patients

Xie

Chen

et al. 2017

Clinical Genetics

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“…Moreover, truncating mutations in PALB2 were also detected in Chinese familial breast cancer, although the relative risk has not been estimated . These studies simultaneously identified many non‐synonymous missense variants in PALB2 , but there was no evidence that these variants were associated with breast cancer predisposition . In our study, no deleterious truncating variant was identified, and the allele counts of the observed missense variants were not statistically different from that in HGVD (Tables and ).…”

Section: Discussioncontrasting

confidence: 47%

Mutation status of RAD51C,PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations

et al. 2017

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In addition to BRCA1 and BRCA2, RAD51C,PALB2 and BRIP1 are known as breast cancer susceptibility genes. However, the mutation status of these genes in Japanese familial breast cancer cases has not yet been evaluated. To this end, we analyzed the exon sequence and genomic rearrangement of RAD51C,PALB2 and BRIP1 in 100 Japanese patients diagnosed with familial breast and ovarian cancer and without BRCA1 and BRCA2 mutations. We detected a large deletion from exons 6 to 9 in RAD51C, 4 novel BRIP1 missense variants containing 3 novel non‐synonymous variants, c.89A>C, c.736A>G and c.2131A>G, and a splice donor site variant c.918+2T>C. No deleterious variant of PALB2 was detected. The results of pedigree analysis showed that the proband with a large deletion on RAD51C had a family history of both breast and ovarian cancer, and the families of probands with novel BRIP1 missense variants included a male patient with breast cancer or many patients with breast cancer within the second‐degree relatives. We showed that the mutation frequency of RAD51C in Japanese familial breast cancer cases was similar to that in Western countries and that the prevalence of deleterious mutation of PALB2 was possibly lower. Furthermore, our results suggested that BRIP1 mutation frequency in Japan might differ from that in Western countries.

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“…Many studies previously reported that mutations in the PALB2 gene showed evidence of being correlated with a significantly increased risk of breast cancer [9,10,11,12], especially hereditary breast cancer [13,14]. Mutations in the PALB2 gene confer a doubled breast cancer risk with moderate-to-low penetrance [15].…”

Section: Discussionmentioning

confidence: 99%

Association between rs120963, rs152451, rs249935, rs447529, rs8053188, and rs16940342 Polymorphisms in the <b><i>PALB2</i></b> Gene and Breast Cancer Susceptibility: A Meta-Analysis

Dong

Wang

et al. 2018

Oncol Res Treat

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Background: The aim of this study was to explore the association between single nucleotide polymorphisms (SNPs) in the rs120963, rs152451, rs249935, rs447529, rs8053188, and rs16940342 loci in the PALB2 gene and breast cancer risk. Methods: Studies investigating the association between SNPs in the PALB2 gene and breast cancer susceptibility were retrieved from the PubMed, Embase, Web of Science, CNKI (Chinese National Knowledge Infrastructure), WanFang, and CBM (China Biology Medicine) databases. Eligible studies were screened according to inclusion/exclusion criteria and principles of quality evaluation. Meta-analysis was performed using Stata 14.0 software. Odds ratios with their corresponding 95% confidence intervals were pooled to assess the association between SNPs in the PALB2 gene loci rs249935, rs447529, rs8053188, rs16940342, rs152451, and rs120963 and breast cancer susceptibility. Results: A total of 9 case-control studies were eligible for this meta-analysis. SNPs in the PALB2 gene loci rs120963, rs249935, and rs447529 were significantly associated with an increased or decreased risk of breast cancer. No significant association was detected for rs152451, rs8053188, and rs16940342 under 4 genetic models. Conclusion: The results of this study suggest that SNPs in the PALB2 loci rs120963/rs249935/rs447529, but not in the other 3 loci (rs152451/rs8053188/rs16940342), may contribute to breast cancer susceptibility.

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Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

Cited by 37 publications

References 48 publications

Mutation screening of 10 cancer susceptibility genes in unselected breast cancer patients

Mutation screening of 10 cancer susceptibility genes in unselected breast cancer patients

Mutation status of RAD51C,PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations

Association between rs120963, rs152451, rs249935, rs447529, rs8053188, and rs16940342 Polymorphisms in the <b><i>PALB2</i></b> Gene and Breast Cancer Susceptibility: A Meta-Analysis

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