Loss of heterozygosity at BRCA2 in a ductal carcinoma in situ and three invasive breast carcinomas in a family with a germline BRCA2 mutation

Mads Thomassen; Torben A Kruse; Karen Ege Olsen; A Borg; Anne Marie Gerdes

doi:10.1007/s10549-004-9503-3

Loss of heterozygosity at BRCA2 in a ductal carcinoma in situ and three invasive breast carcinomas in a family with a germline BRCA2 mutation

Mads Thomassen, Torben A Kruse, Karen Ege Olsen, A Borg, Anne Marie Gerdes

2 Citationer (Scopus)

Abstract

We have examined a family with a germline BRCA2 mutation in three cases of invasive breast cancer and one case of ductal carcinoma in situ (DCIS). Loss of heterozygosity (LOH) has been demonstrated at the BRCA2 locus in all cases. This result may suggest that the germline mutation in BRCA2 is the initiating step of DCIS and support the theory that DCIS is a precursor of invasive breast carcinoma in hereditary breast cancer.

Originalsprog	Engelsk
Tidsskrift	Breast Cancer Research and Treatment
Vol/bind	87
Udgave nummer	3
Sider (fra-til)	273-6
Antal sider	4
ISSN	0167-6806
DOI	https://doi.org/10.1007/s10549-004-9503-3
Status	Udgivet - okt. 2004
Udgivet eksternt	Ja

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10.1007/s10549-004-9503-3

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@article{c677f6c99d4944eb8f3e6a5dd3782a02,

title = "Loss of heterozygosity at BRCA2 in a ductal carcinoma in situ and three invasive breast carcinomas in a family with a germline BRCA2 mutation",

abstract = "We have examined a family with a germline BRCA2 mutation in three cases of invasive breast cancer and one case of ductal carcinoma in situ (DCIS). Loss of heterozygosity (LOH) has been demonstrated at the BRCA2 locus in all cases. This result may suggest that the germline mutation in BRCA2 is the initiating step of DCIS and support the theory that DCIS is a precursor of invasive breast carcinoma in hereditary breast cancer.",

keywords = "Adult, Breast Neoplasms/genetics, Carcinoma, Intraductal, Noninfiltrating/genetics, Female, Genes, BRCA2, Genetic Predisposition to Disease, Humans, Loss of Heterozygosity, Male, Mutation, Pedigree",

author = "Mads Thomassen and Kruse, {Torben A} and Olsen, {Karen Ege} and A Borg and Gerdes, {Anne Marie}",

year = "2004",

month = oct,

doi = "10.1007/s10549-004-9503-3",

language = "English",

volume = "87",

pages = "273--6",

journal = "Breast Cancer Research and Treatment",

issn = "0167-6806",

publisher = "Springer",

number = "3",

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TY - JOUR

T1 - Loss of heterozygosity at BRCA2 in a ductal carcinoma in situ and three invasive breast carcinomas in a family with a germline BRCA2 mutation

AU - Thomassen, Mads

AU - Kruse, Torben A

AU - Olsen, Karen Ege

AU - Borg, A

AU - Gerdes, Anne Marie

PY - 2004/10

Y1 - 2004/10

N2 - We have examined a family with a germline BRCA2 mutation in three cases of invasive breast cancer and one case of ductal carcinoma in situ (DCIS). Loss of heterozygosity (LOH) has been demonstrated at the BRCA2 locus in all cases. This result may suggest that the germline mutation in BRCA2 is the initiating step of DCIS and support the theory that DCIS is a precursor of invasive breast carcinoma in hereditary breast cancer.

AB - We have examined a family with a germline BRCA2 mutation in three cases of invasive breast cancer and one case of ductal carcinoma in situ (DCIS). Loss of heterozygosity (LOH) has been demonstrated at the BRCA2 locus in all cases. This result may suggest that the germline mutation in BRCA2 is the initiating step of DCIS and support the theory that DCIS is a precursor of invasive breast carcinoma in hereditary breast cancer.

KW - Adult

KW - Breast Neoplasms/genetics

KW - Carcinoma, Intraductal, Noninfiltrating/genetics

KW - Female

KW - Genes, BRCA2

KW - Genetic Predisposition to Disease

KW - Humans

KW - Loss of Heterozygosity

KW - Male

KW - Mutation

KW - Pedigree

U2 - 10.1007/s10549-004-9503-3

DO - 10.1007/s10549-004-9503-3

M3 - Journal article

C2 - 15528970

SN - 0167-6806

VL - 87

SP - 273

EP - 276

JO - Breast Cancer Research and Treatment

JF - Breast Cancer Research and Treatment

IS - 3

ER -

Loss of heterozygosity at BRCA2 in a ductal carcinoma in situ and three invasive breast carcinomas in a family with a germline BRCA2 mutation

Abstract

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