Identification of a novel BRCA1 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
Research output: Contribution to journal › Journal article › Research › peer-review
Standard
Identification of a novel BRCA1 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 van Overeem; Jønson, Lars; Albrechtsen, Anders; Steffensen, Ane Yde; Bergsten, Eva Boje; Myrhøj, Torben; Ejlertsen, Bent Laursen; Nielsen, Finn Cilius.
In: Breast Cancer Research and Treatment, Vol. 124, No. 1, 2010, p. 259-264.Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families
T2 - implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer
AU - Hansen, Thomas van Overeem
AU - Jønson, Lars
AU - Albrechtsen, Anders
AU - Steffensen, Ane Yde
AU - Bergsten, Eva Boje
AU - Myrhøj, Torben
AU - Ejlertsen, Bent Laursen
AU - Nielsen, Finn Cilius
PY - 2010
Y1 - 2010
N2 - Germ-line mutations in the tumour suppressor proteins BRCA1 and BRCA2 predispose to breast and ovarian cancer. We have recently identified a Greenlandic Inuit BRCA1 nucleotide 234T>G/c.115T>G (p.Cys39Gly) founder mutation, which at that time was the only disease-causing BRCA1/BRCA2 mutation identified in this population. Here, we describe the identification of a novel disease-causing BRCA1 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 BRCA1 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 BRCA1 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 BRCA1 gene.
AB - Germ-line mutations in the tumour suppressor proteins BRCA1 and BRCA2 predispose to breast and ovarian cancer. We have recently identified a Greenlandic Inuit BRCA1 nucleotide 234T>G/c.115T>G (p.Cys39Gly) founder mutation, which at that time was the only disease-causing BRCA1/BRCA2 mutation identified in this population. Here, we describe the identification of a novel disease-causing BRCA1 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 BRCA1 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 BRCA1 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 BRCA1 gene.
KW - Adult
KW - BRCA1 Protein
KW - Base Sequence
KW - Breast Neoplasms
KW - Codon, Nonsense
KW - DNA Mutational Analysis
KW - Female
KW - Founder Effect
KW - Frameshift Mutation
KW - Genetic Predisposition to Disease
KW - Genetic Testing
KW - Greenland
KW - Heredity
KW - Humans
KW - Inuits
KW - Middle Aged
KW - Molecular Sequence Data
KW - Ovarian Neoplasms
KW - Pedigree
KW - Risk Assessment
KW - Risk Factors
KW - Sequence Deletion
U2 - 10.1007/s10549-010-0909-9
DO - 10.1007/s10549-010-0909-9
M3 - Journal article
C2 - 20437199
VL - 124
SP - 259
EP - 264
JO - Breast Cancer Research and Treatment
JF - Breast Cancer Research and Treatment
SN - 0167-6806
IS - 1
ER -
ID: 45422136