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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Main Authors: | , , , , , , , |
Other Authors: | , , , , , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
HAL CCSD
2010
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Subjects: | |
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 |
Summary: | 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. |
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