DETECTION OF MUTATIONS RELATED TO HEREDITARY CANCER IN RELATIVES OF BREAST CANCER PATIENTS

The BRCA1 5382insC and CHEK2 1100 delC mutations were analyzed in 3850 of non-selected breast cancer patients residing in Novosibirsk region, Russia. One hundred seventy probands, BRCA1 5382insC or CHEK2 1100delC mutation carriers, were found. The study demonstrated that more than 80 % of probands i...

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Main Authors: G. A. Paul, N. A. Matyash, E. E. Pisareva, M. S. Anisimenko, A. E. Kozyakov, S. P. Kovalenko
Format: Article
Language:Russian
Published: Russian Academy of Sciences, Tomsk National Research Medical Center 2017-09-01
Series:Сибирский онкологический журнал
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Online Access:https://www.siboncoj.ru/jour/article/view/573
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author G. A. Paul
N. A. Matyash
E. E. Pisareva
M. S. Anisimenko
A. E. Kozyakov
S. P. Kovalenko
author_facet G. A. Paul
N. A. Matyash
E. E. Pisareva
M. S. Anisimenko
A. E. Kozyakov
S. P. Kovalenko
author_sort G. A. Paul
collection DOAJ
description The BRCA1 5382insC and CHEK2 1100 delC mutations were analyzed in 3850 of non-selected breast cancer patients residing in Novosibirsk region, Russia. One hundred seventy probands, BRCA1 5382insC or CHEK2 1100delC mutation carriers, were found. The study demonstrated that more than 80 % of probands informed relatives about their hereditary or familial cancer risk. Fifty-nine BRCA1 5382insC and CHEK2 1100 delC mutation carriers were found among 144 proband’s relatives. Mutation carriers or their relatives were interviewed two years after starting the project. At least 18 % of the mutation carriers reported primary tumor or recurrence of the tumor 2 years after starting the project.
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language Russian
publishDate 2017-09-01
publisher Russian Academy of Sciences, Tomsk National Research Medical Center
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series Сибирский онкологический журнал
spelling doaj-art-4434f2297e9e4399bbf6ec32b4a0cbb82025-08-20T03:18:26ZrusRussian Academy of Sciences, Tomsk National Research Medical CenterСибирский онкологический журнал1814-48612312-31682017-09-01164848810.21294/1814-4861-2017-16-4-84-88471DETECTION OF MUTATIONS RELATED TO HEREDITARY CANCER IN RELATIVES OF BREAST CANCER PATIENTSG. A. Paul0N. A. Matyash1E. E. Pisareva2M. S. Anisimenko3A. E. Kozyakov4S. P. Kovalenko5Biolink Ltd.Biolink Ltd.Biolink Ltd; Institute of Molecular Biology and Biophysics.Biolink Ltd; Institute of Molecular Biology and Biophysics.Institute of Molecular Biology and Biophysics; Novosibirsk regional oncological clinic.Biolink Ltd; Institute of Molecular Biology and Biophysics.The BRCA1 5382insC and CHEK2 1100 delC mutations were analyzed in 3850 of non-selected breast cancer patients residing in Novosibirsk region, Russia. One hundred seventy probands, BRCA1 5382insC or CHEK2 1100delC mutation carriers, were found. The study demonstrated that more than 80 % of probands informed relatives about their hereditary or familial cancer risk. Fifty-nine BRCA1 5382insC and CHEK2 1100 delC mutation carriers were found among 144 proband’s relatives. Mutation carriers or their relatives were interviewed two years after starting the project. At least 18 % of the mutation carriers reported primary tumor or recurrence of the tumor 2 years after starting the project.https://www.siboncoj.ru/jour/article/view/573hereditary cancerbreast cancermutation screeningbrca1 5382insc mutationchek2 1100delc mutation
spellingShingle G. A. Paul
N. A. Matyash
E. E. Pisareva
M. S. Anisimenko
A. E. Kozyakov
S. P. Kovalenko
DETECTION OF MUTATIONS RELATED TO HEREDITARY CANCER IN RELATIVES OF BREAST CANCER PATIENTS
Сибирский онкологический журнал
hereditary cancer
breast cancer
mutation screening
brca1 5382insc mutation
chek2 1100delc mutation
title DETECTION OF MUTATIONS RELATED TO HEREDITARY CANCER IN RELATIVES OF BREAST CANCER PATIENTS
title_full DETECTION OF MUTATIONS RELATED TO HEREDITARY CANCER IN RELATIVES OF BREAST CANCER PATIENTS
title_fullStr DETECTION OF MUTATIONS RELATED TO HEREDITARY CANCER IN RELATIVES OF BREAST CANCER PATIENTS
title_full_unstemmed DETECTION OF MUTATIONS RELATED TO HEREDITARY CANCER IN RELATIVES OF BREAST CANCER PATIENTS
title_short DETECTION OF MUTATIONS RELATED TO HEREDITARY CANCER IN RELATIVES OF BREAST CANCER PATIENTS
title_sort detection of mutations related to hereditary cancer in relatives of breast cancer patients
topic hereditary cancer
breast cancer
mutation screening
brca1 5382insc mutation
chek2 1100delc mutation
url https://www.siboncoj.ru/jour/article/view/573
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AT namatyash detectionofmutationsrelatedtohereditarycancerinrelativesofbreastcancerpatients
AT eepisareva detectionofmutationsrelatedtohereditarycancerinrelativesofbreastcancerpatients
AT msanisimenko detectionofmutationsrelatedtohereditarycancerinrelativesofbreastcancerpatients
AT aekozyakov detectionofmutationsrelatedtohereditarycancerinrelativesofbreastcancerpatients
AT spkovalenko detectionofmutationsrelatedtohereditarycancerinrelativesofbreastcancerpatients