Identification of a novel nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer
International audience Germ-line mutations in the tumour suppressor proteins and predispose to breast and ovarian cancer. We have recently identified a Greenlandic Inuit nucleotide 234T>G/c.115T>G (p.Cys39Gly) founder mutation, which at that time was the only disease-causing mutation identifie...
Published in: | Breast Cancer Research and Treatment |
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Format: | Article in Journal/Newspaper |
Language: | English |
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Online Access: | https://hal.science/hal-00531008 https://hal.science/hal-00531008/document https://hal.science/hal-00531008/file/PEER_stage2_10.1007%252Fs10549-010-0909-9.pdf https://doi.org/10.1007/s10549-010-0909-9 |
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ftccsdartic:oai:HAL:hal-00531008v1 2024-02-11T10:04:23+01:00 Identification of a novel nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer Hansen, Thomas V. O. Jønson, Lars Albrechtsen, Anders Steffensen, Ane Y. Bergsten, Eva Myrhøj, Torben Ejlertsen, Bent Nielsen, Finn C. Department of Clinical Biochemistry Rigshospitalet Rigshospitalet Copenhagen Copenhagen University Hospital-Copenhagen University Hospital Section of Biostatistics Copenhagen Department of Public Health Copenhagen Faculty of Health and Medical Sciences University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH)-Faculty of Health and Medical Sciences University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH) Department of Oncology Department of Surgery Dronning Ingrids Hospital 2010-05-01 https://hal.science/hal-00531008 https://hal.science/hal-00531008/document https://hal.science/hal-00531008/file/PEER_stage2_10.1007%252Fs10549-010-0909-9.pdf https://doi.org/10.1007/s10549-010-0909-9 en eng HAL CCSD Springer Verlag info:eu-repo/semantics/altIdentifier/doi/10.1007/s10549-010-0909-9 hal-00531008 https://hal.science/hal-00531008 https://hal.science/hal-00531008/document https://hal.science/hal-00531008/file/PEER_stage2_10.1007%252Fs10549-010-0909-9.pdf doi:10.1007/s10549-010-0909-9 info:eu-repo/semantics/OpenAccess ISSN: 0167-6806 EISSN: 1573-7217 Breast Cancer Research and Treatment https://hal.science/hal-00531008 Breast Cancer Research and Treatment, 2010, 124 (1), pp.259-264. ⟨10.1007/s10549-010-0909-9⟩ Greenland Inuit Novel mutation info:eu-repo/semantics/article Journal articles 2010 ftccsdartic https://doi.org/10.1007/s10549-010-0909-9 2024-01-13T23:34:02Z International audience Germ-line mutations in the tumour suppressor proteins and predispose to breast and ovarian cancer. We have recently identified a Greenlandic Inuit nucleotide 234T>G/c.115T>G (p.Cys39Gly) founder mutation, which at that time was the only disease-causing mutation identified in this population. Here, we describe the identification of a novel disease-causing nucleotide 4803delCC/c.4684delCC mutation in a Greenlandic Inuit with ovarian cancer. The mutation introduces a frameshift and a premature stop at codon 1572. We have also identified a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in another Greenlandic individual with ovarian cancer. This patient share a 1–2 Mb genomic fragment, containing the gene, with four Danish families harbouring the same mutation, suggesting that the 249T>A/c.130T>A (p.Cys44Ser) mutation originates from a Danish ancestor. We conclude that screening of Greenlandic Inuits with high risk of breast or ovarian cancer should include sequencing of the entire gene. Article in Journal/Newspaper Greenland greenlandic inuit inuits Archive ouverte HAL (Hyper Article en Ligne, CCSD - Centre pour la Communication Scientifique Directe) Greenland Breast Cancer Research and Treatment 124 1 259 264 |
institution |
Open Polar |
collection |
Archive ouverte HAL (Hyper Article en Ligne, CCSD - Centre pour la Communication Scientifique Directe) |
op_collection_id |
ftccsdartic |
language |
English |
topic |
Greenland Inuit Novel mutation |
spellingShingle |
Greenland Inuit Novel mutation Hansen, Thomas V. O. Jønson, Lars Albrechtsen, Anders Steffensen, Ane Y. Bergsten, Eva Myrhøj, Torben Ejlertsen, Bent Nielsen, Finn C. Identification of a novel nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer |
topic_facet |
Greenland Inuit Novel mutation |
description |
International audience Germ-line mutations in the tumour suppressor proteins and predispose to breast and ovarian cancer. We have recently identified a Greenlandic Inuit nucleotide 234T>G/c.115T>G (p.Cys39Gly) founder mutation, which at that time was the only disease-causing mutation identified in this population. Here, we describe the identification of a novel disease-causing nucleotide 4803delCC/c.4684delCC mutation in a Greenlandic Inuit with ovarian cancer. The mutation introduces a frameshift and a premature stop at codon 1572. We have also identified a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in another Greenlandic individual with ovarian cancer. This patient share a 1–2 Mb genomic fragment, containing the gene, with four Danish families harbouring the same mutation, suggesting that the 249T>A/c.130T>A (p.Cys44Ser) mutation originates from a Danish ancestor. We conclude that screening of Greenlandic Inuits with high risk of breast or ovarian cancer should include sequencing of the entire gene. |
author2 |
Department of Clinical Biochemistry Rigshospitalet Rigshospitalet Copenhagen Copenhagen University Hospital-Copenhagen University Hospital Section of Biostatistics Copenhagen Department of Public Health Copenhagen Faculty of Health and Medical Sciences University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH)-Faculty of Health and Medical Sciences University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH) Department of Oncology Department of Surgery Dronning Ingrids Hospital |
format |
Article in Journal/Newspaper |
author |
Hansen, Thomas V. O. Jønson, Lars Albrechtsen, Anders Steffensen, Ane Y. Bergsten, Eva Myrhøj, Torben Ejlertsen, Bent Nielsen, Finn C. |
author_facet |
Hansen, Thomas V. O. Jønson, Lars Albrechtsen, Anders Steffensen, Ane Y. Bergsten, Eva Myrhøj, Torben Ejlertsen, Bent Nielsen, Finn C. |
author_sort |
Hansen, Thomas V. O. |
title |
Identification of a novel nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer |
title_short |
Identification of a novel nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer |
title_full |
Identification of a novel nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer |
title_fullStr |
Identification of a novel nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer |
title_full_unstemmed |
Identification of a novel nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer |
title_sort |
identification of a novel nucleotide 4803delcc/c.4684delcc mutation and a nucleotide 249t>a/c.130t>a (p.cys44ser) mutation in two greenlandic inuit families: implications for genetic screening of greenlandic inuit families with high risk for breast and/or ovarian cancer |
publisher |
HAL CCSD |
publishDate |
2010 |
url |
https://hal.science/hal-00531008 https://hal.science/hal-00531008/document https://hal.science/hal-00531008/file/PEER_stage2_10.1007%252Fs10549-010-0909-9.pdf https://doi.org/10.1007/s10549-010-0909-9 |
geographic |
Greenland |
geographic_facet |
Greenland |
genre |
Greenland greenlandic inuit inuits |
genre_facet |
Greenland greenlandic inuit inuits |
op_source |
ISSN: 0167-6806 EISSN: 1573-7217 Breast Cancer Research and Treatment https://hal.science/hal-00531008 Breast Cancer Research and Treatment, 2010, 124 (1), pp.259-264. ⟨10.1007/s10549-010-0909-9⟩ |
op_relation |
info:eu-repo/semantics/altIdentifier/doi/10.1007/s10549-010-0909-9 hal-00531008 https://hal.science/hal-00531008 https://hal.science/hal-00531008/document https://hal.science/hal-00531008/file/PEER_stage2_10.1007%252Fs10549-010-0909-9.pdf doi:10.1007/s10549-010-0909-9 |
op_rights |
info:eu-repo/semantics/OpenAccess |
op_doi |
https://doi.org/10.1007/s10549-010-0909-9 |
container_title |
Breast Cancer Research and Treatment |
container_volume |
124 |
container_issue |
1 |
container_start_page |
259 |
op_container_end_page |
264 |
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1790600982429696000 |