Publication

Predictability of BRCA1/2 mutation status in patients with ovarian cancer: How to select women for genetic testing in middle-income countries

Teixeira, N., Maistro, S., Del Pilar Estevez Diz, M., Mourits, M. J., Oosterwijk, J. C., Folgueira, M. A. K. & de Bock, G. H., Nov-2017, In : Maturitas. 105, p. 113-118 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

Teixeira, N., Maistro, S., Del Pilar Estevez Diz, M., Mourits, M. J., Oosterwijk, J. C., Folgueira, M. A. K., & de Bock, G. H. (2017). Predictability of BRCA1/2 mutation status in patients with ovarian cancer: How to select women for genetic testing in middle-income countries. Maturitas, 105, 113-118. https://doi.org/10.1016/j.maturitas.2017.06.002

Author

Teixeira, Natalia ; Maistro, Simone ; Del Pilar Estevez Diz, Maria ; Mourits, Marian J ; Oosterwijk, Jan C ; Folgueira, Maria Aparecida Koike ; de Bock, Geertruida H. / Predictability of BRCA1/2 mutation status in patients with ovarian cancer : How to select women for genetic testing in middle-income countries. In: Maturitas. 2017 ; Vol. 105. pp. 113-118.

Harvard

Teixeira, N, Maistro, S, Del Pilar Estevez Diz, M, Mourits, MJ, Oosterwijk, JC, Folgueira, MAK & de Bock, GH 2017, 'Predictability of BRCA1/2 mutation status in patients with ovarian cancer: How to select women for genetic testing in middle-income countries', Maturitas, vol. 105, pp. 113-118. https://doi.org/10.1016/j.maturitas.2017.06.002

Standard

Predictability of BRCA1/2 mutation status in patients with ovarian cancer : How to select women for genetic testing in middle-income countries. / Teixeira, Natalia; Maistro, Simone; Del Pilar Estevez Diz, Maria; Mourits, Marian J; Oosterwijk, Jan C; Folgueira, Maria Aparecida Koike; de Bock, Geertruida H.

In: Maturitas, Vol. 105, 11.2017, p. 113-118.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Teixeira N, Maistro S, Del Pilar Estevez Diz M, Mourits MJ, Oosterwijk JC, Folgueira MAK et al. Predictability of BRCA1/2 mutation status in patients with ovarian cancer: How to select women for genetic testing in middle-income countries. Maturitas. 2017 Nov;105:113-118. https://doi.org/10.1016/j.maturitas.2017.06.002


BibTeX

@article{c7c0c52218ef42ecbb9742cebe81a7f3,
title = "Predictability of BRCA1/2 mutation status in patients with ovarian cancer: How to select women for genetic testing in middle-income countries",
abstract = "Objectives: To evaluate the accuracy of algorithms for predicting BRCAI/2 germ-line mutation carrier probability, and to identify factors that could improve their performance among Brazilian women with ovarian cancer (OC).Study design: In this cross-sectional study, we enrolled patients (unselected for family history of cancer) undergoing treatment or follow-up for OC in a single centre in Brazil. Clinical and demographic data, including family history of cancer, were obtained. Blood samples were collected for genetic testing.Main outcome measures: The entire coding sequence of BRCAI and BRCA2 was evaluated for mutations. Mutation carrier probability was calculated using BOADICEA, BRCAPRO, Myriad and the Manchester score. Sensitivity, specificity, positive and negative predictive values, and area under the receiver operating characteristic curves (AUC) were calculated for each algorithm. Logistic regression was used to detect additional factors associated with BRCA1/2 status, and these were added to the algorithms before recalculating the AUCs.Results: BRCAI/2 mutations were identified in 19 of the 100 included patients. BOADICEA outperformed other algorithms (sensitivity, 73.7{\%}; specificity, 87.7{\%}; AUC, 0.87, with a threshold of a 10{\%} risk of mutation). Later menarche was associated with the presence of a BRCAI/2 mutation. Although adding age at menarche resulted in a larger AUC for all models, this increase was significant only for the Myriad algorithm.Conclusion: A BOADICEA risk evaluation of 10{\%} or more most accurately predicted BRCA1/2 status, and the inclusion of age at menarche tended to improve the performance of all algorithms. Using these tools could reduce the number of tests, but at the expense of missing a significant proportion of mutation carriers.",
keywords = "BRCAI gene, BRCA2 gene, Hereditary breast and ovarian cancer syndrome, Genetic testing, Risk assessment, REDUCING SALPINGO-OOPHORECTOMY, GERMLINE MUTATIONS, SCORING SYSTEM, BREAST, RISK, BOADICEA, BRCAPRO, SERIES, BRAZIL, AGE",
author = "Natalia Teixeira and Simone Maistro and {Del Pilar Estevez Diz}, Maria and Mourits, {Marian J} and Oosterwijk, {Jan C} and Folgueira, {Maria Aparecida Koike} and {de Bock}, {Geertruida H}",
note = "Copyright {\circledC} 2017 Elsevier B.V. All rights reserved.",
year = "2017",
month = "11",
doi = "10.1016/j.maturitas.2017.06.002",
language = "English",
volume = "105",
pages = "113--118",
journal = "Maturitas",
issn = "0378-5122",
publisher = "ELSEVIER IRELAND LTD",

}

RIS

TY - JOUR

T1 - Predictability of BRCA1/2 mutation status in patients with ovarian cancer

T2 - How to select women for genetic testing in middle-income countries

AU - Teixeira, Natalia

AU - Maistro, Simone

AU - Del Pilar Estevez Diz, Maria

AU - Mourits, Marian J

AU - Oosterwijk, Jan C

AU - Folgueira, Maria Aparecida Koike

AU - de Bock, Geertruida H

N1 - Copyright © 2017 Elsevier B.V. All rights reserved.

PY - 2017/11

Y1 - 2017/11

N2 - Objectives: To evaluate the accuracy of algorithms for predicting BRCAI/2 germ-line mutation carrier probability, and to identify factors that could improve their performance among Brazilian women with ovarian cancer (OC).Study design: In this cross-sectional study, we enrolled patients (unselected for family history of cancer) undergoing treatment or follow-up for OC in a single centre in Brazil. Clinical and demographic data, including family history of cancer, were obtained. Blood samples were collected for genetic testing.Main outcome measures: The entire coding sequence of BRCAI and BRCA2 was evaluated for mutations. Mutation carrier probability was calculated using BOADICEA, BRCAPRO, Myriad and the Manchester score. Sensitivity, specificity, positive and negative predictive values, and area under the receiver operating characteristic curves (AUC) were calculated for each algorithm. Logistic regression was used to detect additional factors associated with BRCA1/2 status, and these were added to the algorithms before recalculating the AUCs.Results: BRCAI/2 mutations were identified in 19 of the 100 included patients. BOADICEA outperformed other algorithms (sensitivity, 73.7%; specificity, 87.7%; AUC, 0.87, with a threshold of a 10% risk of mutation). Later menarche was associated with the presence of a BRCAI/2 mutation. Although adding age at menarche resulted in a larger AUC for all models, this increase was significant only for the Myriad algorithm.Conclusion: A BOADICEA risk evaluation of 10% or more most accurately predicted BRCA1/2 status, and the inclusion of age at menarche tended to improve the performance of all algorithms. Using these tools could reduce the number of tests, but at the expense of missing a significant proportion of mutation carriers.

AB - Objectives: To evaluate the accuracy of algorithms for predicting BRCAI/2 germ-line mutation carrier probability, and to identify factors that could improve their performance among Brazilian women with ovarian cancer (OC).Study design: In this cross-sectional study, we enrolled patients (unselected for family history of cancer) undergoing treatment or follow-up for OC in a single centre in Brazil. Clinical and demographic data, including family history of cancer, were obtained. Blood samples were collected for genetic testing.Main outcome measures: The entire coding sequence of BRCAI and BRCA2 was evaluated for mutations. Mutation carrier probability was calculated using BOADICEA, BRCAPRO, Myriad and the Manchester score. Sensitivity, specificity, positive and negative predictive values, and area under the receiver operating characteristic curves (AUC) were calculated for each algorithm. Logistic regression was used to detect additional factors associated with BRCA1/2 status, and these were added to the algorithms before recalculating the AUCs.Results: BRCAI/2 mutations were identified in 19 of the 100 included patients. BOADICEA outperformed other algorithms (sensitivity, 73.7%; specificity, 87.7%; AUC, 0.87, with a threshold of a 10% risk of mutation). Later menarche was associated with the presence of a BRCAI/2 mutation. Although adding age at menarche resulted in a larger AUC for all models, this increase was significant only for the Myriad algorithm.Conclusion: A BOADICEA risk evaluation of 10% or more most accurately predicted BRCA1/2 status, and the inclusion of age at menarche tended to improve the performance of all algorithms. Using these tools could reduce the number of tests, but at the expense of missing a significant proportion of mutation carriers.

KW - BRCAI gene

KW - BRCA2 gene

KW - Hereditary breast and ovarian cancer syndrome

KW - Genetic testing

KW - Risk assessment

KW - REDUCING SALPINGO-OOPHORECTOMY

KW - GERMLINE MUTATIONS

KW - SCORING SYSTEM

KW - BREAST

KW - RISK

KW - BOADICEA

KW - BRCAPRO

KW - SERIES

KW - BRAZIL

KW - AGE

U2 - 10.1016/j.maturitas.2017.06.002

DO - 10.1016/j.maturitas.2017.06.002

M3 - Article

C2 - 28619461

VL - 105

SP - 113

EP - 118

JO - Maturitas

JF - Maturitas

SN - 0378-5122

ER -

ID: 46889500