Incidence of BRCA1/2 germ line alterations in a high risk cohort participating in a phase II chemoprevention trial
It is unknown what proportion of women at high risk for breast cancer, entering phase II chemoprevention trials, have BRCA1/2 alterations, and whether their initial biomarker patterns or response to preventive interventions will differ between carriers and non-carriers. As part of a 6-month phase II...
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| Published in | European journal of cancer (1990) Vol. 36; no. 10; pp. 1209 - 1214 |
|---|---|
| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Elsevier Ltd
01.06.2000
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0959-8049 1879-0852 |
| DOI | 10.1016/S0959-8049(00)00112-X |
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| Abstract | It is unknown what proportion of women at high risk for breast cancer, entering phase II chemoprevention trials, have
BRCA1/2 alterations, and whether their initial biomarker patterns or response to preventive interventions will differ between carriers and non-carriers. As part of a 6-month phase II chemoprevention trial of diflouromethlyornithine (DFMO), high-risk subjects (family history, prior precancerous breast disease or prior breast cancer), who had random peri-areolar fine needle evidence of epithelial hyperplasia with or without atypia, were offered genetic counselling and testing at the completion of their study participation. 97% of the 119 women eligible for testing underwent
BRCA1/2 gene sequencing, 3 declined. 26 (22%) of the 116 women had an alteration in
BRCA1/2. Known deleterious mutations were present in 3 (3%), uncertain significance mutations in 19 (16%), and probable polymorphisms in 6 (5%). There does not appear to be a difference in initial biomarker distribution between participants with and without germ line alterations. |
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| AbstractList | It is unknown what proportion of women at high risk for breast cancer, entering phase II chemoprevention trials, have
BRCA1/2 alterations, and whether their initial biomarker patterns or response to preventive interventions will differ between carriers and non-carriers. As part of a 6-month phase II chemoprevention trial of diflouromethlyornithine (DFMO), high-risk subjects (family history, prior precancerous breast disease or prior breast cancer), who had random peri-areolar fine needle evidence of epithelial hyperplasia with or without atypia, were offered genetic counselling and testing at the completion of their study participation. 97% of the 119 women eligible for testing underwent
BRCA1/2 gene sequencing, 3 declined. 26 (22%) of the 116 women had an alteration in
BRCA1/2. Known deleterious mutations were present in 3 (3%), uncertain significance mutations in 19 (16%), and probable polymorphisms in 6 (5%). There does not appear to be a difference in initial biomarker distribution between participants with and without germ line alterations. It is unknown what proportion of women at high risk for breast cancer, entering phase II chemoprevention trials, have BRCA1/2 alterations, and whether their initial biomarker patterns or response to preventive interventions will differ between carriers and non-carriers. As part of a 6-month phase II chemoprevention trial of diflouromethlyornithine (DFMO), high-risk subjects (family history, prior precancerous breast disease or prior breast cancer), who had random peri-areolar fine needle evidence of epithelial hyperplasia with or without atypia, were offered genetic counselling and testing at the completion of their study participation. 97% of the 119 women eligible for testing underwent BRCA1/2 gene sequencing, 3 declined. 26 (22%) of the 116 women had an alteration in BRCA1/2. Known deleterious mutations were present in 3 (3%), uncertain significance mutations in 19 (16%), and probable polymorphisms in 6 (5%). There does not appear to be a difference in initial biomarker distribution between participants with and without germ line alterations.It is unknown what proportion of women at high risk for breast cancer, entering phase II chemoprevention trials, have BRCA1/2 alterations, and whether their initial biomarker patterns or response to preventive interventions will differ between carriers and non-carriers. As part of a 6-month phase II chemoprevention trial of diflouromethlyornithine (DFMO), high-risk subjects (family history, prior precancerous breast disease or prior breast cancer), who had random peri-areolar fine needle evidence of epithelial hyperplasia with or without atypia, were offered genetic counselling and testing at the completion of their study participation. 97% of the 119 women eligible for testing underwent BRCA1/2 gene sequencing, 3 declined. 26 (22%) of the 116 women had an alteration in BRCA1/2. Known deleterious mutations were present in 3 (3%), uncertain significance mutations in 19 (16%), and probable polymorphisms in 6 (5%). There does not appear to be a difference in initial biomarker distribution between participants with and without germ line alterations. It is unknown what proportion of women at high risk for breast cancer, entering phase II chemoprevention trials, have BRCA1/2 alterations, and whether their initial biomarker patterns or response to preventive interventions will differ between carriers and non-carriers. As part of a 6-month phase II chemoprevention trial of diflouromethlyornithine (DFMO), high-risk subjects (family history, prior precancerous breast disease or prior breast cancer), who had random peri-areolar fine needle evidence of epithelial hyperplasia with or without atypia, were offered genetic counselling and testing at the completion of their study participation. 97% of the 119 women eligible for testing underwent BRCA1/2 gene sequencing, 3 declined. 26 (22%) of the 116 women had an alteration in BRCA1/2. Known deleterious mutations were present in 3 (3%), uncertain significance mutations in 19 (16%), and probable polymorphisms in 6 (5%). There does not appear to be a difference in initial biomarker distribution between participants with and without germ line alterations. It is unknown what proportion of women at high risk for breast cancer, entering phase II chemoprevention trials, have BRCA1/2 alterations, and whether their initial biomarker patterns or response to preventive interventions will differ between carriers and noncarriers. As part of a 6-month phase II chemoprevention trial of diflouromethlyornithine (DFMO), high-risk subjects (family history, prior precancerous breast disease or prior breast cancer), who had random peri-areolar fine needle evidence of epithelial hyperplasia with or without atypia, were offered genetic counselling and testing at the completion of their study participation. 97% of the 119 women eligible for testing underwent BRCA1/2 gene sequencing, 3 declined. 26 (22%) of the 116 women had an alteration in BRCA1/2. Known deleterious mutations were present in 3 (3%), uncertain significance mutations in 19 (16%), and probable polymorphisms in 6 (5%). There does not appear to be a difference in initial biomarker distribution between participants with and without germ line alterations. |
| Author | Brady, D Klemp, J Frank, T.S Fabian, C.J Kimler, B.F |
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| Cites_doi | 10.1016/S0889-8588(05)70038-1 10.1002/(SICI)1097-0142(19980715)83:2<310::AID-CNCR15>3.0.CO;2-W 10.1093/jnci/91.11.943 10.1056/NEJM199901143400201 10.1093/jnci/90.18.1371 10.1002/(SICI)1097-0142(19960215)77:4<697::AID-CNCR16>3.0.CO;2-W 10.1016/S0140-6736(96)10109-4 10.1001/jama.1997.03540360065034 10.1093/jnci/91.21.1829 10.1111/j.1524-4741.1995.tb00260.x 10.1200/JCO.1999.17.11.3653 10.1002/(SICI)1097-4644(1997)28/29+<101::AID-JCB11>3.0.CO;2-K 10.1086/301749 10.1093/jnci/91.17.1475 10.1016/S0140-6736(98)85012-5 10.1200/JCO.1999.17.11.3396 10.1093/jnci/81.24.1879 10.1016/S0039-6109(05)70069-4 10.1111/j.1524-4741.1995.tb00245.x 10.1097/00001622-199811000-00003 10.1007/BF00665967 |
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BRCA1/2 alterations, and whether their... It is unknown what proportion of women at high risk for breast cancer, entering phase II chemoprevention trials, have BRCA1/2 alterations, and whether their... |
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| SubjectTerms | Adult Antineoplastic Agents - therapeutic use BRCA mutation BRCA2 gene BRCA2 Protein Breast Neoplasms - genetics Breast Neoplasms - prevention & control chemoprevention Cohort Studies difluromethylornithine Eflornithine - therapeutic use Female Genes, BRCA1 - genetics Germ-Line Mutation - genetics Humans Middle Aged Neoplasm Proteins - genetics Pedigree Prevention trial Risk Factors Transcription Factors - genetics |
| Title | Incidence of BRCA1/2 germ line alterations in a high risk cohort participating in a phase II chemoprevention trial |
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