Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
<h3>Importance</h3><p>Limited information about the relationship between specific mutations in<i>BRCA1</i>or<i>BRCA2</i>(<i>BRCA1/2</i>) and cancer risk exists.</p><h3>Objective</h3><p>To identify mutation-specific cancer...
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| Hauptverfasser: | , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
April 7, 2015
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| In: |
The journal of the American Medical Association
Year: 2015, Jahrgang: 313, Heft: 13, Pages: 1347-1361 |
| ISSN: | 1538-3598 |
| DOI: | 10.1001/jama.2014.5985 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1001/jama.2014.5985 Verlag, lizenzpflichtig, Volltext: https://jamanetwork.com/journals/jama/fullarticle/2214084 
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| Verfasserangaben: | Timothy R. Rebbeck, Ute H amann, Christian Sutter, C.R. Bartram, Nicola Dikow [und 253 weitere] |
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| 245 | 1 | 0 | |a Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer |c Timothy R. Rebbeck, Ute H amann, Christian Sutter, C.R. Bartram, Nicola Dikow [und 253 weitere] |
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| 520 | |a <h3>Importance</h3><p>Limited information about the relationship between specific mutations in<i>BRCA1</i>or<i>BRCA2</i>(<i>BRCA1/2</i>) and cancer risk exists.</p><h3>Objective</h3><p>To identify mutation-specific cancer risks for carriers of<i>BRCA1/2</i>.</p><h3>Design, Setting, and Participants</h3><p>Observational study of women who were ascertained between 1937 and 2011 (median, 1999) and found to carry disease-associated<i>BRCA1</i>or<i>BRCA2</i>mutations. The international sample comprised 19 581 carriers of<i>BRCA1</i>mutations and 11 900 carriers of<i>BRCA2</i>mutations from 55 centers in 33 countries on 6 continents. We estimated hazard ratios for breast and ovarian cancer based on mutation type, function, and nucleotide position. We also estimated RHR, the ratio of breast vs ovarian cancer hazard ratios. A value of RHR greater than 1 indicated elevated breast cancer risk; a value of RHR less than 1 indicated elevated ovarian cancer risk.</p><h3>Exposures</h3><p>Mutations of<i>BRCA1</i>or<i>BRCA2.</i></p><h3>Main Outcomes and Measures</h3><p>Breast and ovarian cancer risks.</p><h3>Results</h3><p>Among<i>BRCA1</i>mutation carriers, 9052 women (46%) were diagnosed with breast cancer, 2317 (12%) with ovarian cancer, 1041 (5%) with breast and ovarian cancer, and 7171 (37%) without cancer. Among<i>BRCA2</i>mutation carriers, 6180 women (52%) were diagnosed with breast cancer, 682 (6%) with ovarian cancer, 272 (2%) with breast and ovarian cancer, and 4766 (40%) without cancer. In<i>BRCA1</i>, we identified 3 breast cancer cluster regions (BCCRs) located at c.179 to c.505 (BCCR1; RHR = 1.46; 95% CI, 1.22-1.74;<i>P</i> = 2 × 10<sup>−6</sup>), c.4328 to c.4945 (BCCR2; RHR = 1.34; 95% CI, 1.01-1.78;<i>P</i> = .04), and c. 5261 to c.5563 (BCCR2′, RHR = 1.38; 95% CI, 1.22-1.55;<i>P</i> = 6 × 10<sup>−9</sup>). We also identified an ovarian cancer cluster region (OCCR) from c.1380 to c.4062 (approximately exon 11) with RHR = 0.62 (95% CI, 0.56-0.70;<i>P</i> = 9 × 10<sup>−17</sup>). In<i>BRCA2</i>, we observed multiple BCCRs spanning c.1 to c.596 (BCCR1; RHR = 1.71; 95% CI, 1.06-2.78;<i>P</i> = .03), c.772 to c.1806 (BCCR1′; RHR = 1.63; 95% CI, 1.10-2.40;<i>P</i> = .01), and c.7394 to c.8904 (BCCR2; RHR = 2.31; 95% CI, 1.69-3.16;<i>P</i> = .00002). We also identified 3 OCCRs: the first (OCCR1) spanned c.3249 to c.5681 that was adjacent to c.5946delT (6174delT; RHR = 0.51; 95% CI, 0.44-0.60;<i>P</i> = 6 × 10<sup>−17</sup>). The second OCCR spanned c.6645 to c.7471 (OCCR2; RHR = 0.57; 95% CI, 0.41-0.80;<i>P</i> = .001). Mutations conferring nonsense-mediated decay were associated with differential breast or ovarian cancer risks and an earlier age of breast cancer diagnosis for both<i>BRCA1</i>and<i>BRCA2</i>mutation carriers.</p><h3>Conclusions and Relevance</h3><p>Breast and ovarian cancer risks varied by type and location of<i>BRCA1/2</i>mutations. With appropriate validation, these data may have implications for risk assessment and cancer prevention decision making for carriers of<i>BRCA1</i>and<i>BRCA2</i>mutations.</p> | ||
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