BRCA1 and BRCA2 screening of nine Chilean founder mutations through allelic-discrimination and real-time PCR in breast/ovarian cancer patients

Álvarez, Carolina; Ortega-Hernández, Victoria; Cortez, Aracely; Carvallo, Pilar

doi:10.1007/s11033-022-07561-4

Cited by 2 publications

(7 citation statements)

References 17 publications

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“…In the literature review, from 2006 to 2023, eight studies analysed the frequency of LP/P variants in BRCA1/2 in the Chilean population with cohorts of variable size, inclusion criteria, and technology used for testing [ 5 – 8 , 12 – 14 , 16 ] ( Table 4 ). One study [ 9 ] was excluded due to variant nomenclature discrepancies, and because the P variants reported were now classified as benign or VUS.…”

Section: Resultsmentioning

confidence: 99%

“…The frequency of LP/P variants in BRCA1/2 across studies using Sanger or NGS (all except Sanchez et al [ 12 ]) was between 7.1% and 17.1%. The study conducted by Alvarez et al [ 16 ] exclusively focused on analysing the frequency of nine previously described variants in BRCA1/2 from a prior study. A partial overlap was observed between the individuals reported in the Ossa Gomez et al [ 13 ] cohort and those in our study due to all examinations from our institution being referred to the Invitae laboratory.…”

Section: Resultsmentioning

confidence: 99%

“…Considering the total previously reported Chilean families [ 5 – 8 , 10 , 12 , 13 ] along with this cohort, 51.9% carried one of these variants. It’s important to note that 60 families were exclusively studied for these nine variants [ 6 , 16 ] (Supplementary Table 5).…”

Section: Resultsmentioning

confidence: 99%

“…In that review and the present one, the lack of homogeneity in the selection criteria, population size, and testing methodologies from the different studies could account for some differences in the prevalence of BRCA variants. The limited access to genetic counselling and studies in the region, as well as the lack of coverage of therapeutic, risk reduction, and early detection interventions that have shown cost-effectiveness in people with BRCA1/2 variants, all factors that discourage testing [ 5 , 13 , 16 , 24 ], likely contributed to a selection bias towards patients more likely to test positive. Alternate hypotheses suggest that individuals of Latin American or African ancestry might exhibit a higher prevalence of P variants.…”

Section: Discussionmentioning

confidence: 99%

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Variants in BRCA1/2 in a hospital-based cohort in Chile and national literature review.

Martin,

Saffie,

Hurtado

et al. 2024

ecancer Journal

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Purpose The aim was to assess the diagnostic yield of next generation sequencing (NGS) multi-gene panels for breast and ovarian cancer in a high-complexity cancer centre in Chile. Additionally, our goal was to broaden the genotypic spectrum of BRCA variants already identified in Chilean families. Methods Retrospective analysis was conducted on the genetic test results of 722 individuals from Fundación Arturo López Pérez’s genetic counselling unit between 2016 and 2021. A comprehensive literature review encompassing articles analysing the frequency of germinal pathogenic variants in BRCA1/2 within the Chilean population was undertaken. Results 23.5% of the panels had positive results, with 60% due to pathogenic variants in the BRCA1/2 genes. Seven previously unreported variants in BRCA1 from Chilean studies were identified. One or more variants of uncertain significance were detected in 31% of the results, and 11.5% of the families in this cohort presented copy number variants (CNVs) in BRCA1/2 . 8 studies analysed the frequency of pathogenic variants in BRCA1/2 in the Chilean population between 2006 and 2023, with a frequency between 7.1% and 17.1%. 51 BRCA1 variants in 149 families have been reported in Chile and 38 BRCA2 variants in 132 families. Nine founder pathogenic variants identified by one study were present in 51.9% of the total Chilean families reported. Conclusion Our findings advocate for the integration of NGS multi-gene panel testing as a primary strategy within our population. This approach allows for the comprehensive assessment of single nucleotide variants and CNVs in BRCA1/2 , alongside other high and moderately penetrant genes associated with breast and ovarian cancer.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Variants in BRCA1/2 in a hospital-based cohort in Chile and national literature review.

Martin,

Saffie,

Hurtado

et al. 2024

ecancer Journal

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“…Although genetics play an important role in BC etiology, the major susceptibility genes BRCA1 and BRCA2 only explain about 16% of risk, and analysis of BRCA1/BRCA2 mutations currently plays a highly significant role in oncological clinical genetics worldwide, with the goal of improving prevention and treatment for women at high risk. In Chile, studies have been carried out in relation to prevalent mutations in these genes, and this information is used in clinical practice [7][8][9]. More frequent but less-penetrant mutations have been identified in families with BC, located in moderate-or low-penetrance genes such as CHEK2, RAD51C, RAD51D, ATM, PALB2, BRIP1, BARD1, TP53, CDH1, RECQL, and NBN [10,11].…”

Section: Introductionmentioning

confidence: 99%

Association of Germline Variation in Driver Genes with Breast Cancer Risk in Chilean Population

Morales-Pison,

Tapia,

Morales-González

et al. 2023

IJMS

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Cancer is a genomic disease, with driver mutations contributing to tumorigenesis. These potentially heritable variants influence risk and underlie familial breast cancer (BC). This study evaluated associations between BC risk and 13 SNPs in driver genes MAP3K1, SF3B1, SMAD4, ARID2, ATR, KMT2C, MAP3K13, NCOR1, and TBX3, in BRCA1/2-negative Chilean families. SNPs were genotyped using TaqMan Assay in 492 cases and 1285 controls. There were no associations between rs75704921:C>T (ARID2); rs2229032:A>C (ATR); rs3735156:C>G (KMT2C); rs2276738:G>C, rs2293906:C>T, rs4075943T:>A, rs13091808:C>T (MAP3K13); rs178831:G>A (NCOR1); or rs3759173:C>A (TBX3) and risk. The MAP3K1 rs832583 A allele (C/A+A/A) showed a protective effect in families with moderate BC history (OR = 0.7 [95% CI 0.5–0.9] p = 0.01). SF3B1 rs16865677-T (G/T+T/T) increased risk in sporadic early-onset BC (OR = 1.4 [95% CI 1.0–2.0] p = 0.01). SMAD4 rs3819122-C (A/C+C/C) increased risk in cases with moderate family history (OR = 2.0 [95% CI 1.3–2.9] p ≤ 0.0001) and sporadic cases diagnosed ≤50 years (OR = 1.6 [95% CI 1.1–2.2] p = 0.006). SMAD4 rs12456284:A>G increased BC risk in G-allele carriers (A/G + G/G) in cases with ≥2 BC/OC cases and early-onset cases (OR = 1.2 [95% CI 1.0–1.6] p = 0.04 and OR = 1.4 [95% CI 1.0–1.9] p = 0.03, respectively). Our study suggests that specific germline variants in driver genes MAP3K1, SF3B1, and SMAD4 contribute to BC risk in Chilean population.

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BRCA1 and BRCA2 screening of nine Chilean founder mutations through allelic-discrimination and real-time PCR in breast/ovarian cancer patients

Cited by 2 publications

References 17 publications

Variants in BRCA1/2 in a hospital-based cohort in Chile and national literature review.

Variants in BRCA1/2 in a hospital-based cohort in Chile and national literature review.

Association of Germline Variation in Driver Genes with Breast Cancer Risk in Chilean Population

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