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Cited by 437

The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer

Open access
Ramus, Susan J., Song, Honglin, Dicks, Ed, Tyrer, Jonathan P., Rosenthal, Adam N., Intermaggio, Maria P., Fraser, Lindsay, Gentry-Maharaj, Aleksandra, Hayward, Jane, Philpott, Susan, Anderson, Christopher, Edlund, Christopher K., Conti, David, Harrington, Patricia, Barrowdale, Daniel, Bowtell, David D., Alsop, Kathryn, Mitchell, Gillian, Cicek, Mine S., Cunningham, Julie M., Fridley, Brooke L., Alsop, Jennifer, Jimenez-Linan, Mercedes, Poblete, Samantha, Lele, Shashi, Sucheston-Campbell, Lara, Moysich, Kirsten B., Sieh, Weiva, McGuire, Valerie, Lester, Jenny, Bogdanova, Natalia, Dürst, Matthias, Hillemanns, Peter, Odunsi, Kunle, Whittemore, Alice S., Karlan, Beth Y, Dörk, Thilo, Goode, Ellen L., Menon, Usha, Jacobs, Ian J., Antoniou, Antonis C., Pharoah, Paul D. P., Gayther, Simon A.·2015·JNCI: Journal of the National Cancer Institute
DOI 10.1093/jnci/djv214
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Abstract

BACKGROUND: Epithelial ovarian cancer (EOC) is the most lethal gynecological malignancy, responsible for 13 000 deaths per year in the United States. Risk prediction based on identifying germline mutations in ovarian cancer susceptibility genes could have a clinically significant impact on reducing disease mortality. METHODS: Next generation sequencing was used to identify germline mutations in the coding regions of four candidate susceptibility genes-BRIP1, BARD1, PALB2 and NBN-in 3236 invasive EOC case patients and 3431 control patients of European origin, and in 2000 unaffected high-risk women from a clinical screening trial of ovarian cancer (UKFOCSS). For each gene, we estimated the prevalence and EOC risks and evaluated associations between germline variant status and clinical and epidemiological risk factor information. All statistical tests were two-sided. RESULTS: We found an increased frequency of deleterious mutations in BRIP1 in case patients (0.9%) and in the UKFOCSS participants (0.6%) compared with control patients (0.09%) (P = 1 x 10(-4) and 8 x 10(-4), respectively), but no differences for BARD1 (P = .39), NBN1 ( P = .61), or PALB2 (P = .08). There was also a difference in the frequency of rare missense variants in BRIP1 between case patients and control patients (P = 5.5 x 10(-4)). The relative risks associated with BRIP1 mutations were 11.22 for invasive EOC (95% confidence interval [CI] = 3.22 to 34.10, P = 1 x 10(-4)) and 14.09 for high-grade serous disease (95% CI = 4.04 to 45.02, P = 2 x 10(-5)). Segregation analysis in families estimated the average relative risks in BRIP1 mutation carriers compared with the general population to be 3.41 (95% CI = 2.12 to 5.54, P = 7×10(-7)). CONCLUSIONS: Deleterious germline mutations in BRIP1 are associated with a moderate increase in EOC risk. These data have clinical implications for risk prediction and prevention approaches for ovarian cancer and emphasize the critical need for risk estimates based on very large sample sizes before genes of moderate penetrance have clinical utility in cancer prevention.

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Metadata

Authors
Ramus, S. J., Song, H., Dicks, E., Tyrer, J. P., Rosenthal, A. N., Intermaggio, M. P., Fraser, L., Gentry-Maharaj, A., Hayward, J., Philpott, S., Anderson, C., Edlund, C. K., Conti, D., Harrington, P., Barrowdale, D., Bowtell, D. D., Alsop, K., Mitchell, G., Cicek, M. S., Cunningham, J. M., Fridley, B. L., Alsop, J., Jimenez-Linan, M., Poblete, S., Lele, S., Sucheston-Campbell, L., Moysich, K. B., Sieh, W., McGuire, V., Lester, J., Bogdanova, N., Dürst, M., Hillemanns, P., Odunsi, K., Whittemore, A. S., Karlan, B. Y., Dörk, T., Goode, E. L., Menon, U., Jacobs, I. J., Antoniou, A. C., Pharoah, P. D. P., & Gayther, S. A.
Venue
JNCI: Journal of the National Cancer Institute
Publisher
Oxford University Press (OUP)
Published
2015-08-27
Volume
107
Issue
11
ISSN
  • 0027-8874 (ISSN-L)
  • 1460-2105
DOI
10.1093/jnci/djv214
OpenAlex
W2325363292
Cited by
437
References
37
FWCI
25.08
Type
journal article
Language
en
Open access
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CoChat. (2026). Citation check: Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. https://app.cochat.ai/papers/10.1093/jnci/djv214
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Ramus, S. J., Song, H., Dicks, E., Tyrer, J. P., Rosenthal, A. N., Intermaggio, M. P., Fraser, L., Gentry-Maharaj, A., Hayward, J., Philpott, S., Anderson, C., Edlund, C. K., Conti, D., Harrington, P., Barrowdale, D., Bowtell, D. D., Alsop, K., Mitchell, G., Cicek, M. S., . . . Gayther, S. A. (2015). Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. JNCI: Journal of the National Cancer Institute. https://doi.org/10.1093/jnci/djv214

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.