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BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes.

Publication ,  Journal Article
Berry, DA; Iversen, ES; Gudbjartsson, DF; Hiller, EH; Garber, JE; Peshkin, BN; Lerman, C; Watson, P; Lynch, HT; Hilsenbeck, SG; Rubinstein, WS ...
Published in: Journal of clinical oncology : official journal of the American Society of Clinical Oncology
June 2002

To compare genetic test results for deleterious mutations of BRCA1 and BRCA2 with estimated probabilities of carrying such mutations; to assess sensitivity of genetic testing; and to assess the relevance of other susceptibility genes in familial breast and ovarian cancer.Data analyzed were from six high-risk genetic counseling clinics and concern individuals from families for which at least one member was tested for mutations at BRCA1 and BRCA2. Predictions of genetic predisposition to breast and ovarian cancer for 301 individuals were made using BRCAPRO, a statistical model and software using Mendelian genetics and Bayesian updating. Model predictions were compared with the results of genetic testing.Among the test individuals, 126 were Ashkenazi Jewish, three were male subjects, 243 had breast cancer, 49 had ovarian cancer, 34 were unaffected, and 139 tested positive for BRCA1 mutations and 29 for BRCA2 mutations. BRCAPRO performed well: for the 150 probands with the smallest BRCAPRO carrier probabilities (average, 29.0%), the proportion testing positive was 32.7%; for the 151 probands with the largest carrier probabilities (average, 95.2%), 78.8% tested positive. Genetic testing sensitivity was estimated to be at least 85%, with false-negatives including mutations of susceptibility genes heretofore unknown.BRCAPRO is an accurate counseling tool for determining the probability of carrying mutations of BRCA1 and BRCA2. Genetic testing for BRCA1 and BRCA2 is highly sensitive, missing an estimated 15% of mutations. In the populations studied, breast cancer susceptibility genes other than BRCA1 and BRCA2 either do not exist, are rare, or are associated with low disease penetrance.

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Published In

Journal of clinical oncology : official journal of the American Society of Clinical Oncology

DOI

EISSN

1527-7755

ISSN

0732-183X

Publication Date

June 2002

Volume

20

Issue

11

Start / End Page

2701 / 2712

Related Subject Headings

  • United States
  • Sensitivity and Specificity
  • Retrospective Studies
  • Reproducibility of Results
  • Probability
  • Prevalence
  • Pedigree
  • Ovarian Neoplasms
  • Oncology & Carcinogenesis
  • Middle Aged
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Berry, D. A., Iversen, E. S., Gudbjartsson, D. F., Hiller, E. H., Garber, J. E., Peshkin, B. N., … Parmigiani, G. (2002). BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 20(11), 2701–2712. https://doi.org/10.1200/jco.2002.05.121
Berry, Donald A., Edwin S. Iversen, Daniel F. Gudbjartsson, Elaine H. Hiller, Judy E. Garber, Beth N. Peshkin, Caryn Lerman, et al. “BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology 20, no. 11 (June 2002): 2701–12. https://doi.org/10.1200/jco.2002.05.121.
Berry DA, Iversen ES, Gudbjartsson DF, Hiller EH, Garber JE, Peshkin BN, et al. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2002 Jun;20(11):2701–12.
Berry, Donald A., et al. “BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, vol. 20, no. 11, June 2002, pp. 2701–12. Epmc, doi:10.1200/jco.2002.05.121.
Berry DA, Iversen ES, Gudbjartsson DF, Hiller EH, Garber JE, Peshkin BN, Lerman C, Watson P, Lynch HT, Hilsenbeck SG, Rubinstein WS, Hughes KS, Parmigiani G. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2002 Jun;20(11):2701–2712.

Published In

Journal of clinical oncology : official journal of the American Society of Clinical Oncology

DOI

EISSN

1527-7755

ISSN

0732-183X

Publication Date

June 2002

Volume

20

Issue

11

Start / End Page

2701 / 2712

Related Subject Headings

  • United States
  • Sensitivity and Specificity
  • Retrospective Studies
  • Reproducibility of Results
  • Probability
  • Prevalence
  • Pedigree
  • Ovarian Neoplasms
  • Oncology & Carcinogenesis
  • Middle Aged