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

Thomas van Overeem Hansen; Lars Jønson; Anders Albrechtsen; Ane Yde Steffensen; Eva Boje Bergsten; Torben Myrhøj; Bent Laursen Ejlertsen; Finn Cilius Nielsen

doi:10.1007/s10549-010-0909-9

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

Thomas van Overeem Hansen, Lars Jønson, Anders Albrechtsen, Ane Yde Steffensen, Eva Boje Bergsten, Torben Myrhøj, Bent Laursen Ejlertsen, Finn Cilius Nielsen

7 Citationer (Scopus)

Abstract

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.

Originalsprog	Engelsk
Tidsskrift	Breast Cancer Research and Treatment
Vol/bind	124
Udgave nummer	1
Sider (fra-til)	259-264
Antal sider	6
ISSN	0167-6806
DOI	https://doi.org/10.1007/s10549-010-0909-9
Status	Udgivet - nov. 2010

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10.1007/s10549-010-0909-9

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Citationsformater

Hansen, T. V. O., Jønson, L., Albrechtsen, A., Steffensen, A. Y., Bergsten, E. B., Myrhøj, T., Ejlertsen, B. L., & Nielsen, F. C. (2010). 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. Breast Cancer Research and Treatment, 124(1), 259-264. https://doi.org/10.1007/s10549-010-0909-9

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 et al.
I: Breast Cancer Research and Treatment, Bind 124, Nr. 1, 11.2010, s. 259-264.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Hansen, TVO, Jønson, L, Albrechtsen, A, Steffensen, AY, Bergsten, EB, Myrhøj, T, Ejlertsen, BL & Nielsen, FC 2010, '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', Breast Cancer Research and Treatment, bind 124, nr. 1, s. 259-264. https://doi.org/10.1007/s10549-010-0909-9

Hansen TVO, Jønson L, Albrechtsen A, Steffensen AY, Bergsten EB, Myrhøj T et al. 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. Breast Cancer Research and Treatment. 2010 nov.;124(1):259-264. doi: 10.1007/s10549-010-0909-9

Hansen, Thomas van Overeem ; Jønson, Lars ; Albrechtsen, Anders et al. / 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. I: Breast Cancer Research and Treatment. 2010 ; Bind 124, Nr. 1. s. 259-264.

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title = "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",

abstract = "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.",

keywords = "Adult, BRCA1 Protein, Base Sequence, Breast Neoplasms, Codon, Nonsense, DNA Mutational Analysis, Female, Founder Effect, Frameshift Mutation, Genetic Predisposition to Disease, Genetic Testing, Greenland, Heredity, Humans, Inuits, Middle Aged, Molecular Sequence Data, Ovarian Neoplasms, Pedigree, Risk Assessment, Risk Factors, Sequence Deletion",

author = "Hansen, {Thomas van Overeem} and Lars J{\o}nson and Anders Albrechtsen and Steffensen, {Ane Yde} and Bergsten, {Eva Boje} and Torben Myrh{\o}j and Ejlertsen, {Bent Laursen} and Nielsen, {Finn Cilius}",

year = "2010",

month = nov,

doi = "10.1007/s10549-010-0909-9",

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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 - 2010/11

Y1 - 2010/11

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

SN - 0167-6806

VL - 124

SP - 259

EP - 264

JO - Breast Cancer Research and Treatment

JF - Breast Cancer Research and Treatment

IS - 1

ER -