Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting <i>BRCA1/2</i> mutations in a Southeast Asian country

Chew, Winston; Moorakonda, Rajesh Babu; Courtney, Eliza; Soh, Hazel; Li, Shao Tzu; Shaw, T. Claye; Allen, John C.; Evans, D. Gareth; Ngeow, Joanne

doi:10.1136/jmedgenet-2017-105073

Cited by 5 publications

(4 citation statements)

References 27 publications

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“…Our small study showed the high accuracy of the Manchester scoring system for the prediction of pathogenic non-founder BRCA1/2 mutations in founder mutation-negative patients. Our finding is supported by several other studies performed on the validation of the Manchester scoring system in populations of UK, Germany and South East Asia [ 13 , 27 , 28 ]. However, larger numbers of cases are needed for comprehensive validation of these criteria in the population of Latvia.…”

Section: Discussionsupporting

confidence: 90%

High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population

Maksimenko

Irmejs

Trofimovics

et al. 2018

Hered Cancer Clin Pract

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BackgroundPathogenic BRCA1 founder mutations (c.4035delA, c.5266dupC) contribute to 3.77% of all consecutive primary breast cancers and 9.9% of all consecutive primary ovarian cancers. Identifying germline pathogenic gene variants in patients with primary breast and ovarian cancer could significantly impact the medical management of patients. The aim of the study was to evaluate the rate of pathogenic mutations in the 26 breast and ovarian cancer susceptibility genes in patients who meet the criteria for BRCA1/2 testing and to compare the accuracy of different selection criteria for second-line testing in a founder population.MethodsFifteen female probands and 1 male proband that met National Comprehensive Cancer Network (NCCN) criteria for BRCA1/2 testing were included in the study and underwent 26-gene panel testing. Fourteen probands had breast cancer, one proband had ovarian cancer, and one proband had both breast and ovarian cancer. In a 26-gene panel, the following breast and/or ovarian cancer susceptibility genes were included: ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, and XRCC2. All patients previously tested negative for BRCA1 founder mutations.ResultsIn 44% (7 out of 16) of tested probands, pathogenic mutations were identified. Six probands carried pathogenic mutations in BRCA1, and one proband carried pathogenic mutations in BRCA2. In patients, a variant of uncertain significance was found in BRCA2, RAD50, MRE11A and CDH1. The Manchester scoring system showed a high accuracy (87.5%), high sensitivity (85.7%) and high specificity (88.9%) for the prediction of pathogenic non-founder BRCA1/2 mutations.ConclusionA relatively high incidence of pathogenic non-founder BRCA1/2 mutations was observed in a founder population. The Manchester scoring system predicted the probability of non-founder pathogenic mutations with high accuracy.

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Section: Discussionsupporting

confidence: 90%

High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population

Maksimenko

Irmejs

Trofimovics

et al. 2018

Hered Cancer Clin Pract

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“…The flow of article selection process is depicted in Figure 3 . After screening 544 records, 73 studies 10 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 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 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , …”

Section: Resultsmentioning

confidence: 99%

Characterization of the HER2 status in BRCA-mutated breast cancer: a single institutional series and systematic review with pooled analysis

et al. 2022

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“…Several studies reported poor model performance in Asian breast cancer cohorts, including evaluation of Manchester Scoring System 14 and BOADICEA 10 in a Malaysian cohort of 187 patients with BRCA mutation rate of 14.4% 21 , and evaluation of BRCAPRO 11 and Myriad 12 in a Korean cohort of 236 patients with BRCA mutation rate of 19.5% 22 . In contrast, an updated Manchester Scoring System that included adjustment for breast cancer receptor status and high grade serous type ovarian cancer was shown to be equally effective in BRCA mutation prediction in the Singapore cohort as in the Manchester population 23 . In a cohort of 212 Chinese familial breast cancer patients with BRCA mutation rate of 15.6%, BRCAPRO, Penn II 16 , and Myriad models showed comparable accuracy to western cohorts 24 .…”

Section: Introductionmentioning

confidence: 88%

Evaluating BRCA mutation risk predictive models in a Chinese cohort in Taiwan

Hung

Wang

Jian

et al. 2019

Sci Rep

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Accurate estimation of carrier probabilities of cancer susceptibility gene mutations is an important part of pre-test genetic counselling. Many predictive models are available but their applicability in the Asian population is uncertain. We evaluated the performance of five BRCA mutation risk predictive models in a Chinese cohort of 647 women, who underwent germline DNA sequencing of a cancer susceptibility gene panel. Using areas under the curve (AUCs) on receiver operating characteristics (ROC) curves as performance measures, the models did comparably well as in western cohorts (BOADICEA 0.75, BRCAPRO 0.73, Penn II 0.69, Myriad 0.68). For unaffected women with family history of breast or ovarian cancer (n = 144), BOADICEA, BRCAPRO, and Tyrer-Cuzick models had excellent performance (AUC 0.93, 0.92, and 0.92, respectively). For women with both personal and family history of breast or ovarian cancer (n = 241), all models performed fairly well (BOADICEA 0.79, BRCAPRO 0.79, Penn II 0.75, Myriad 0.70). For women with personal history of breast or ovarian cancer but no family history (n = 262), most models did poorly. Between the two well-performed models, BOADICEA underestimated mutation risks while BRCAPRO overestimated mutation risks (expected/observed ratio 0.67 and 2.34, respectively). Among 424 women with personal history of breast cancer and available tumor ER/PR/HER2 data, the predictive models performed better for women with triple negative breast cancer (AUC 0.74 to 0.80) than for women with luminal or HER2 overexpressed breast cancer (AUC 0.63 to 0.69). However, incorporating ER/PR/HER2 status into the BOADICEA model calculation did not improve its predictive accuracy.

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Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country

Abstract: Our results indicate that the updated MSS3 outperforms previous iterations and relative to the Manchester population, is just as effective in identifying patients with mutations in a Southeast Asian

Cited by 5 publications

References 27 publications

High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population

High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population

Characterization of the HER2 status in BRCA-mutated breast cancer: a single institutional series and systematic review with pooled analysis

Evaluating BRCA mutation risk predictive models in a Chinese cohort in Taiwan

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