Frequency of <it>CHEK2*1100delC</it> in New York breast cancer cases and controls
<p>Abstract</p> <p>Background</p> <p>The <it>1100delC CHEK2 </it>allele has been associated with a 1.4–4.7 fold increased risk for breast cancer in women carrying this mutation. While the frequency of <it>1100delC </it>was 1.1–1.4% in healthy Fin...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2003-01-01
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| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/4/1 |
| _version_ | 1818559895613472768 |
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| author | Robson Mark Satagopan Jaya Huang Helen Yossepowitch Orit Johnson Steven Gregersen Peter Rapaport Beth Kolachana Prema Kirchhoff Tomas Pierce Heather Offit Kenneth Scheuer Lauren Nafa Khedoudja Ellis Nathan |
| author_facet | Robson Mark Satagopan Jaya Huang Helen Yossepowitch Orit Johnson Steven Gregersen Peter Rapaport Beth Kolachana Prema Kirchhoff Tomas Pierce Heather Offit Kenneth Scheuer Lauren Nafa Khedoudja Ellis Nathan |
| author_sort | Robson Mark |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>The <it>1100delC CHEK2 </it>allele has been associated with a 1.4–4.7 fold increased risk for breast cancer in women carrying this mutation. While the frequency of <it>1100delC </it>was 1.1–1.4% in healthy Finnish controls, the frequency of this allele in a North American control population and in North American breast cancer kindreds remains unclear.</p> <p>Methods</p> <p>We genotyped 1665 healthy New York volunteers and 300 cases of breast cancer for the <it>CHEK2*1100delC</it>.</p> <p>Results</p> <p>The overall frequency of the <it>1100delC </it>was 3/300 (1.0%) among all cases with either a family history of breast cancer (n = 192) or a personal history of breast cancer (n = 108, of which 46 were bilateral, 46 unilateral, and 16 were male breast cancer cases), compared to a frequency of 5/1665 (0.3%) in healthy controls (p = 0.1). There was no difference in allele frequency among Ashkenazi and non-Ashkenazi controls.</p> <p>Conclusion</p> <p>The relatively low breast cancer penetrance of this allele, along with the low population frequency, will limit the clinical applicability of germline testing for <it>CHEK2*1100delC </it>in North American kindreds.</p> |
| first_indexed | 2024-12-14T00:31:28Z |
| format | Article |
| id | doaj.art-a5e9aa2ad7844f43888a0e616e957f2d |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-14T00:31:28Z |
| publishDate | 2003-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-a5e9aa2ad7844f43888a0e616e957f2d2022-12-21T23:24:49ZengBMCBMC Medical Genetics1471-23502003-01-0141110.1186/1471-2350-4-1Frequency of <it>CHEK2*1100delC</it> in New York breast cancer cases and controlsRobson MarkSatagopan JayaHuang HelenYossepowitch OritJohnson StevenGregersen PeterRapaport BethKolachana PremaKirchhoff TomasPierce HeatherOffit KennethScheuer LaurenNafa KhedoudjaEllis Nathan<p>Abstract</p> <p>Background</p> <p>The <it>1100delC CHEK2 </it>allele has been associated with a 1.4–4.7 fold increased risk for breast cancer in women carrying this mutation. While the frequency of <it>1100delC </it>was 1.1–1.4% in healthy Finnish controls, the frequency of this allele in a North American control population and in North American breast cancer kindreds remains unclear.</p> <p>Methods</p> <p>We genotyped 1665 healthy New York volunteers and 300 cases of breast cancer for the <it>CHEK2*1100delC</it>.</p> <p>Results</p> <p>The overall frequency of the <it>1100delC </it>was 3/300 (1.0%) among all cases with either a family history of breast cancer (n = 192) or a personal history of breast cancer (n = 108, of which 46 were bilateral, 46 unilateral, and 16 were male breast cancer cases), compared to a frequency of 5/1665 (0.3%) in healthy controls (p = 0.1). There was no difference in allele frequency among Ashkenazi and non-Ashkenazi controls.</p> <p>Conclusion</p> <p>The relatively low breast cancer penetrance of this allele, along with the low population frequency, will limit the clinical applicability of germline testing for <it>CHEK2*1100delC </it>in North American kindreds.</p>http://www.biomedcentral.com/1471-2350/4/1 |
| spellingShingle | Robson Mark Satagopan Jaya Huang Helen Yossepowitch Orit Johnson Steven Gregersen Peter Rapaport Beth Kolachana Prema Kirchhoff Tomas Pierce Heather Offit Kenneth Scheuer Lauren Nafa Khedoudja Ellis Nathan Frequency of <it>CHEK2*1100delC</it> in New York breast cancer cases and controls BMC Medical Genetics |
| title | Frequency of <it>CHEK2*1100delC</it> in New York breast cancer cases and controls |
| title_full | Frequency of <it>CHEK2*1100delC</it> in New York breast cancer cases and controls |
| title_fullStr | Frequency of <it>CHEK2*1100delC</it> in New York breast cancer cases and controls |
| title_full_unstemmed | Frequency of <it>CHEK2*1100delC</it> in New York breast cancer cases and controls |
| title_short | Frequency of <it>CHEK2*1100delC</it> in New York breast cancer cases and controls |
| title_sort | frequency of it chek2 1100delc it in new york breast cancer cases and controls |
| url | http://www.biomedcentral.com/1471-2350/4/1 |
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