BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations

Sei Hyun Ahn; Byung Ho Son; Kyung Sik Yoon; Dong Young Noh; Wonshik Han; Sung Won Kim; Eun Sook Lee; Hai Lin Park; Young Joon Hong; Jae Jin Choi; Seo Yun Moon; Mi Jeong Kim; Kye Hyun Kim; Beom Seok Kwak; Dae Yeon Cho

doi:10.1016/j.canlet.2005.12.031

BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations

Sei Hyun Ahn, Byung Ho Son, Kyung Sik Yoon, Dong Young Noh, Wonshik Han, Sung Won Kim, Eun Sook Lee, Hai Lin Park, Young Joon Hong, Jae Jin Choi, Seo Yun Moon, Mi Jeong Kim, Kye Hyun Kim, Beom Seok Kwak, Dae Yeon Cho

Department of Medicine

Research output: Contribution to journal › Article › peer-review

49 Scopus citations

Abstract

We analyzed the mutation spectrum of BRCA1 and BRCA2 genes in 354 Korean breast cancer patients. Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations. Seven district mutations were found in multiple unrelated patients, with the BRCA2 c.7480C>T mutation detected in eight unrelated patients, accounting for 50% of the mutations detected in BRCA2. The large number (25/40, 62.5%) of recurrent mutations suggests the possibility of developing a simple screening test for these mutations. The frequency of mutations was related to the number and kinds of risk factors, varying from 10.4 to 25% in the five major risk factor groups. The frequency of BRCA mutations in patients with two or more risk factors was markedly higher than that in patients with one risk factor.

Original language	English
Pages (from-to)	90-95
Number of pages	6
Journal	Cancer Letters
Volume	245
Issue number	1-2
DOIs	https://doi.org/10.1016/j.canlet.2005.12.031
State	Published - 8 Jan 2007

Keywords

BRCA1
BRCA2
Breast cancer
Korean
Mutation analysis

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.canlet.2005.12.031

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Ahn, S. H., Son, B. H., Yoon, K. S., Noh, D. Y., Han, W., Kim, S. W., Lee, E. S., Park, H. L., Hong, Y. J., Choi, J. J., Moon, S. Y., Kim, M. J., Kim, K. H., Kwak, B. S., & Cho, D. Y. (2007). BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations. Cancer Letters, 245(1-2), 90-95. https://doi.org/10.1016/j.canlet.2005.12.031

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title = "BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations",

abstract = "We analyzed the mutation spectrum of BRCA1 and BRCA2 genes in 354 Korean breast cancer patients. Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations. Seven district mutations were found in multiple unrelated patients, with the BRCA2 c.7480C>T mutation detected in eight unrelated patients, accounting for 50% of the mutations detected in BRCA2. The large number (25/40, 62.5%) of recurrent mutations suggests the possibility of developing a simple screening test for these mutations. The frequency of mutations was related to the number and kinds of risk factors, varying from 10.4 to 25% in the five major risk factor groups. The frequency of BRCA mutations in patients with two or more risk factors was markedly higher than that in patients with one risk factor.",

keywords = "BRCA1, BRCA2, Breast cancer, Korean, Mutation analysis",

author = "Ahn, {Sei Hyun} and Son, {Byung Ho} and Yoon, {Kyung Sik} and Noh, {Dong Young} and Wonshik Han and Kim, {Sung Won} and Lee, {Eun Sook} and Park, {Hai Lin} and Hong, {Young Joon} and Choi, {Jae Jin} and Moon, {Seo Yun} and Kim, {Mi Jeong} and Kim, {Kye Hyun} and Kwak, {Beom Seok} and Cho, {Dae Yeon}",

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doi = "10.1016/j.canlet.2005.12.031",

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T1 - BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations

AU - Ahn, Sei Hyun

AU - Son, Byung Ho

AU - Yoon, Kyung Sik

AU - Noh, Dong Young

AU - Han, Wonshik

AU - Kim, Sung Won

AU - Lee, Eun Sook

AU - Park, Hai Lin

AU - Hong, Young Joon

AU - Choi, Jae Jin

AU - Moon, Seo Yun

AU - Kim, Mi Jeong

AU - Kim, Kye Hyun

AU - Kwak, Beom Seok

AU - Cho, Dae Yeon

PY - 2007/1/8

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N2 - We analyzed the mutation spectrum of BRCA1 and BRCA2 genes in 354 Korean breast cancer patients. Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations. Seven district mutations were found in multiple unrelated patients, with the BRCA2 c.7480C>T mutation detected in eight unrelated patients, accounting for 50% of the mutations detected in BRCA2. The large number (25/40, 62.5%) of recurrent mutations suggests the possibility of developing a simple screening test for these mutations. The frequency of mutations was related to the number and kinds of risk factors, varying from 10.4 to 25% in the five major risk factor groups. The frequency of BRCA mutations in patients with two or more risk factors was markedly higher than that in patients with one risk factor.

AB - We analyzed the mutation spectrum of BRCA1 and BRCA2 genes in 354 Korean breast cancer patients. Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations. Seven district mutations were found in multiple unrelated patients, with the BRCA2 c.7480C>T mutation detected in eight unrelated patients, accounting for 50% of the mutations detected in BRCA2. The large number (25/40, 62.5%) of recurrent mutations suggests the possibility of developing a simple screening test for these mutations. The frequency of mutations was related to the number and kinds of risk factors, varying from 10.4 to 25% in the five major risk factor groups. The frequency of BRCA mutations in patients with two or more risk factors was markedly higher than that in patients with one risk factor.

KW - BRCA1

KW - BRCA2

KW - Breast cancer

KW - Korean

KW - Mutation analysis

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AN - SCOPUS:33845734986

SN - 0304-3835

VL - 245

SP - 90

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JO - Cancer Letters

JF - Cancer Letters

IS - 1-2

ER -

BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations

Abstract

Keywords

UN SDGs

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