BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: An open resource for collaborative research

Susan L. Neuhausen; Hilmi Ozcelik; Melissa C. Southey; Esther M. John; Andrew K. Godwin; Wendy Chung; Jeniffer Iriondo-Perez; Alexander Miron; Regina M. Santella; Alice Whittemore; Irene L. Andrulis; Saundra S. Buys; Mary B. Daly; John L. Hopper; Daniela Seminara; Ruby T. Senie; Mary Beth Terry

doi:10.1007/s10549-008-0153-8

BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: An open resource for collaborative research

Susan L. Neuhausen, Hilmi Ozcelik, Melissa C. Southey, Esther M. John, Andrew K. Godwin, Wendy Chung, Jeniffer Iriondo-Perez, Alexander Miron, Regina M. Santella, Alice Whittemore, Irene L. Andrulis, Saundra S. Buys, Mary B. Daly, John L. Hopper, Daniela Seminara, Ruby T. Senie, Mary Beth Terry

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

54 Scopus citations

Abstract

The Breast Cancer Family Registry is a resource for interdisciplinary and translational studies of the genetic epidemiology of breast cancer. This resource is available to researchers worldwide for collaborative studies. Herein, we report the results of testing for germline mutations in BRCA1 and BRCA2. We have tested 4,531 probands for mutations in BRCA1 and 4,084 in BRCA2. Deleterious mutations in BRCA1 and BRCA2 were identified for 9.8% of probands tested [233/4,531 (5.1%) for BRCA1 and 193/4,084 (4.7%) for BRCA2]. Of 1,385 Ashkenazi Jewish women tested for only the three founder mutations, 17.4% carried a deleterious mutation. In total, from the proband and subsequent family testing, 1,360 female mutation carriers (788 in BRCA1, 566 in BRCA2, 6 in both BRCA1 and BRCA2) have been identified. The value of the resource has been greatly enhanced by determining the germline BRCA1 and BRCA2 mutation statuses of nearly 6,000 probands.

Original language	English
Pages (from-to)	379-386
Number of pages	8
Journal	Breast Cancer Research and Treatment
Volume	116
Issue number	2
DOIs	https://doi.org/10.1007/s10549-008-0153-8
State	Published - Jul 2009

Keywords

BRCA1
BRCA2
Biospecimen repository
Breast cancer

UN SDGs

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

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10.1007/s10549-008-0153-8

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Neuhausen, S. L., Ozcelik, H., Southey, M. C., John, E. M., Godwin, A. K., Chung, W., Iriondo-Perez, J., Miron, A., Santella, R. M., Whittemore, A., Andrulis, I. L., Buys, S. S., Daly, M. B., Hopper, J. L., Seminara, D., Senie, R. T., & Terry, M. B. (2009). BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: An open resource for collaborative research. Breast Cancer Research and Treatment, 116(2), 379-386. https://doi.org/10.1007/s10549-008-0153-8

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title = "BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: An open resource for collaborative research",

abstract = "The Breast Cancer Family Registry is a resource for interdisciplinary and translational studies of the genetic epidemiology of breast cancer. This resource is available to researchers worldwide for collaborative studies. Herein, we report the results of testing for germline mutations in BRCA1 and BRCA2. We have tested 4,531 probands for mutations in BRCA1 and 4,084 in BRCA2. Deleterious mutations in BRCA1 and BRCA2 were identified for 9.8% of probands tested [233/4,531 (5.1%) for BRCA1 and 193/4,084 (4.7%) for BRCA2]. Of 1,385 Ashkenazi Jewish women tested for only the three founder mutations, 17.4% carried a deleterious mutation. In total, from the proband and subsequent family testing, 1,360 female mutation carriers (788 in BRCA1, 566 in BRCA2, 6 in both BRCA1 and BRCA2) have been identified. The value of the resource has been greatly enhanced by determining the germline BRCA1 and BRCA2 mutation statuses of nearly 6,000 probands.",

keywords = "BRCA1, BRCA2, Biospecimen repository, Breast cancer",

author = "Neuhausen, {Susan L.} and Hilmi Ozcelik and Southey, {Melissa C.} and John, {Esther M.} and Godwin, {Andrew K.} and Wendy Chung and Jeniffer Iriondo-Perez and Alexander Miron and Santella, {Regina M.} and Alice Whittemore and Andrulis, {Irene L.} and Buys, {Saundra S.} and Daly, {Mary B.} and Hopper, {John L.} and Daniela Seminara and Senie, {Ruby T.} and Terry, {Mary Beth}",

year = "2009",

month = jul,

doi = "10.1007/s10549-008-0153-8",

language = "English",

volume = "116",

pages = "379--386",

journal = "Breast Cancer Research and Treatment",

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Neuhausen, SL, Ozcelik, H, Southey, MC, John, EM, Godwin, AK, Chung, W, Iriondo-Perez, J, Miron, A, Santella, RM, Whittemore, A, Andrulis, IL, Buys, SS, Daly, MB, Hopper, JL, Seminara, D, Senie, RT & Terry, MB 2009, 'BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: An open resource for collaborative research', Breast Cancer Research and Treatment, vol. 116, no. 2, pp. 379-386. https://doi.org/10.1007/s10549-008-0153-8

TY - JOUR

T1 - BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry

T2 - An open resource for collaborative research

AU - Neuhausen, Susan L.

AU - Ozcelik, Hilmi

AU - Southey, Melissa C.

AU - John, Esther M.

AU - Godwin, Andrew K.

AU - Chung, Wendy

AU - Iriondo-Perez, Jeniffer

AU - Miron, Alexander

AU - Santella, Regina M.

AU - Whittemore, Alice

AU - Andrulis, Irene L.

AU - Buys, Saundra S.

AU - Daly, Mary B.

AU - Hopper, John L.

AU - Seminara, Daniela

AU - Senie, Ruby T.

AU - Terry, Mary Beth

PY - 2009/7

Y1 - 2009/7

N2 - The Breast Cancer Family Registry is a resource for interdisciplinary and translational studies of the genetic epidemiology of breast cancer. This resource is available to researchers worldwide for collaborative studies. Herein, we report the results of testing for germline mutations in BRCA1 and BRCA2. We have tested 4,531 probands for mutations in BRCA1 and 4,084 in BRCA2. Deleterious mutations in BRCA1 and BRCA2 were identified for 9.8% of probands tested [233/4,531 (5.1%) for BRCA1 and 193/4,084 (4.7%) for BRCA2]. Of 1,385 Ashkenazi Jewish women tested for only the three founder mutations, 17.4% carried a deleterious mutation. In total, from the proband and subsequent family testing, 1,360 female mutation carriers (788 in BRCA1, 566 in BRCA2, 6 in both BRCA1 and BRCA2) have been identified. The value of the resource has been greatly enhanced by determining the germline BRCA1 and BRCA2 mutation statuses of nearly 6,000 probands.

AB - The Breast Cancer Family Registry is a resource for interdisciplinary and translational studies of the genetic epidemiology of breast cancer. This resource is available to researchers worldwide for collaborative studies. Herein, we report the results of testing for germline mutations in BRCA1 and BRCA2. We have tested 4,531 probands for mutations in BRCA1 and 4,084 in BRCA2. Deleterious mutations in BRCA1 and BRCA2 were identified for 9.8% of probands tested [233/4,531 (5.1%) for BRCA1 and 193/4,084 (4.7%) for BRCA2]. Of 1,385 Ashkenazi Jewish women tested for only the three founder mutations, 17.4% carried a deleterious mutation. In total, from the proband and subsequent family testing, 1,360 female mutation carriers (788 in BRCA1, 566 in BRCA2, 6 in both BRCA1 and BRCA2) have been identified. The value of the resource has been greatly enhanced by determining the germline BRCA1 and BRCA2 mutation statuses of nearly 6,000 probands.

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KW - BRCA2

KW - Biospecimen repository

KW - Breast cancer

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U2 - 10.1007/s10549-008-0153-8

DO - 10.1007/s10549-008-0153-8

M3 - Article

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SN - 0167-6806

VL - 116

SP - 379

EP - 386

JO - Breast Cancer Research and Treatment

JF - Breast Cancer Research and Treatment

IS - 2

ER -

BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: An open resource for collaborative research

Abstract

Keywords

UN SDGs

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