New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients

Gervas, Polina; Klyuch, Boris P.; Denisov, Evgeny V.; Kiselev, Artem; Molokov, Aleksey; Писарева, Л. Ф.; Malinovskaya, Elena; Choynzonov, E. L.; Чердынцева, Н. В.

doi:10.1007/s11033-019-04928-y

Cited by 7 publications

(8 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A total of 265 studies were further assessed by the full-text review, of which 145 studies not meeting the criteria (described in the Methods section and Figure S1 ) were excluded. Finally, for the analysis, we included 123 studies: 120 studies from the PubMed search and 3 hand-searched studies [ 15 , 16 , 18 , 19 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , …”

Section: Resultsmentioning

confidence: 99%

Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations

Suszyńska

Kozlowski

2020

Genes

View full text Add to dashboard Cite

Over the last two decades, numerous BARD1 mutations/pathogenic variants (PVs) have been found in patients with breast cancer (BC) and ovarian cancer (OC). However, their role in BC and OC susceptibility remains controversial, and strong evidence-based guidelines for carriers are not yet available. Herein, we present a comprehensive catalog of BARD1 PVs identified in large cumulative cohorts of ~48,700 BC and ~20,800 OC cases (retrieved from 123 studies examining the whole coding sequence of BARD1). Using these resources, we compared the frequency of BARD1 PVs in the cases and ~134,100 controls from the gnomAD database and estimated the effect of the BARD1 PVs on BC and OC risks. The analysis revealed that BARD1 is a BC moderate-risk gene (odds ratio (OR) = 2.90, 95% CIs:2.25–3.75, p < 0.0001) but not an OC risk gene (OR = 1.36, 95% CIs:0.87–2.11, p = 0.1733). In addition, the BARD1 mutational spectrum outlined in this study allowed us to determine recurrent PVs and evaluate the variant-specific risk for the most frequent PVs. In conclusion, these precise estimates improve the understanding of the role of BARD1 PVs in BC and OC predisposition and support the need for BARD1 diagnostic testing in BC patients.

show abstract

Section: Resultsmentioning

confidence: 99%

Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations

Suszyńska

Kozlowski

2020

Genes

View full text Add to dashboard Cite

show abstract

“…The BRCA2 gene, also known as BRCC2 , BROVCA2 , FAD , FACD , FAD1 , GLM3 , FANCD , PNCA2 , FANCD1 and XRCC11 , functions as a tumour suppressor gene and is involved in repairing damaged DNA, and mutations of it are associated with diseases including fanconi anaemia, complementation group D1, fallopian tube cancer, primary peritoneal cancer, ovarian cancer and breast cancer . Numerous reports have indicated that inherited germline mutations in the BRCA1 and BRCA2 genes result in an increased risk of developing breast or ovarian cancer sometime during their life‐times. The prevalence and clinical outcome of germline mutations in the BRCA1/2 and/or PALB2 genes in breast cancer patients in different ethnic groups, including populations from Turkey, Lebanon, Japan, Mexico, China, etc, have been widely reported recently.…”

Section: Discussionmentioning

confidence: 99%

“…Treatments were used immediately when diagnosed, and the recurrences were not found over three years for the proband (III: 11) and five years for her sister (III:3) ( Table 2). 20 Numerous reports have indicated that inherited germline mutations in the BRCA1 9,21,22 and BRCA2 genes 10,[23][24][25] and/or PALB2 genes in breast cancer patients in different ethnic groups, including populations from Turkey, 26 Lebanon, 27 Japan, 28 Mexico, 29 China, [30][31][32] 20 Thus, we collected samples from men, and Sanger sequencing revealed that IV:3 had wild-type alleles of BRCA2, whereas IV:10 carried the heterozygous missense mutation of the gene BRCA2:…”

Section: Re Sultsmentioning

confidence: 99%

Identification of a novel germlineBRCA2variant in a Chinese breast cancer family

Cheng

Peng

et al. 2019

J Cellular Molecular Medi

View full text Add to dashboard Cite

| INTRODUC TI ONCancer is a major health problem worldwide; in particular, breast cancer is the most frequently diagnosed cancer and the leading cause of cancer-related death in women based on the GLOBOCAN 2018 estimates in the United States. 1 In 2019, 1 762 450 new cancer diagnoses and 606 880 cancer deaths are predicted to occur, including approximately 62 930 new cases of female breast cancer in the United States, which accounts for 30% of all new cancer diagnoses in women. 2 The incidence of breast cancer has been rising for most AbstractBreast cancer is the most frequently diagnosed cancer and the leading cause of cancer-related deaths in women worldwide. In this study, a large Chinese pedigree with breast cancer including a proband and two female patients was recruited and a familial history of breast cancer was collected by questionnaire. Clinicopathological assessments and neoadjuvant therapy-related information were obtained for the proband.Blood samples were taken, and gDNA was extracted. The BRCA1/2 and PALB2 genes were screened using next-generation sequencing by a targeted gene panel. We have successfully identified a novel, germline heterozygous, missense mutation of the gene BRCA2: c.7007G>T, p.R2336L, which is likely to be pathogenic in the proband and her elder sister who both had breast cancer. Furthermore, the risk factors for developing breast cancer in this family are discussed. Thus, genetic counselling and long-term follow-up should be provided for this family of breast cancer patients as well as carriers carrying a germline variant of BRCA2: c.7007G>T (p.R2336L). K E Y W O R D SBRCA2, breast cancer, genetic counselling, germline, missense mutation, risk factors

show abstract

“…Breast cancer is the most common female malignancy in the world (Gervas et al, 2019 ) and the fifth leading cause of death among women worldwide (Al‐Wajeeh et al, 2020 ). The breast cancer susceptibility gene ( BRCA ) is the main tumor‐associated gene found in the breast cancer development (Cheng & Huang, 2018 ).…”

Section: Introductionmentioning

confidence: 99%

“…

BACKGROUNDBreast cancer is the most common female malignancy in the world (Gervas et al, 2019) and the fifth leading cause of death among women worldwide (Al-Wajeeh et al, 2020).The breast cancer susceptibility gene (BRCA) is the main tumor-associated gene found in the breast cancer development (Cheng & Huang, 2018). About 5-10% of breast cancers are considered to be hereditary and are attributed to pathogenic mutations in the BRCA1 and BRCA2 genes

…”

mentioning

confidence: 99%

Mutations in exon region of BRCA1‐related RING domain 1 gene and risk of breast cancer

Aini

Ma³

2022

Molec Gen & Gen Med

View full text Add to dashboard Cite

Background BRCA1‐associated RING Domain 1 (BARD1) is an important gene related to breast cancer development. However, the role of BARD1 mutations in breast cancer remains inconclusive. This study is to investigate the relationship between exon mutations of BARD1 gene and the risk of early‐onset breast cancer. Methods Totally, 60 cases of early‐onset breast cancer patients (age 30–40 years) and 240 healthy women (age 30–40 years) were enrolled. Exon mutations of BARD1 were detected and analyzed by direct sequencing and SNaPshot. Results The risk of breast cancer was increased by 3.475 times in carriers with deletion mutation at rs28997575 site of BARD1 (aOR1 = 3.475, 95%CI = 1.302–9.276) (p = 0.013). The risk of breast cancer in carriers with GC genotype at rs2229571 site of BARD1 was reduced by 72.6% (aOR1 = 0.274, 95%CI = 0.134–0.562) (p = 0.001), and that in carriers with CC genotype was reduced by 82.8% (aOR1 = 0.172, 95%CI = 0.076–0.392) (p = 0.001). After stratification with family history, the difference of rs2229571 site mutation genotype was statistically significant (OR = −2.169, 95%CI = 0.016–0.828, p = 0.032). Additionally, the frequency distribution of breast cancer family history in the case group (15%) was significantly more than that in the control group (6.7%) (p = 0.037). Conclusion The deletion mutation at rs28997575 locus of the BARD1 gene can significantly increase the risk of breast cancer. The mutation genotype of rs2229571 locus can significantly reduce the risk of breast cancer. Family history is associated with BARD1 gene polymorphism. A family history of breast cancer may be a risk factor for breast cancer.

show abstract

New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients

Cited by 7 publications

References 10 publications

Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations

Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations

Identification of a novel germlineBRCA2variant in a Chinese breast cancer family

Mutations in exon region of BRCA1‐related RING domain 1 gene and risk of breast cancer

Contact Info

Product

Resources

About