A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

Yoshio Miki; Jeff Swensen; Donna Shattuck-Eidens; P. Andrew Futreal; Keith Harshman; Sean Tavtigian; Qingyun Liu; Charles Cochran; L. Michelle Bennett; Wei Ding; Russell Bell; Judith Rosenthal; Charles Hussey; Thanh Tran; Melody McClure; Cheryl Frye; Tom Hattier; Robert Phelps; Astrid Haugen-Strano; Harold Katcher; Kazuko Yakumo; Zahra Gholami; Daniel Shaffer; Steven Stone; Steven Bayer; Christian Wray; Robert Bogden; Priya Dayananth; John Ward; Patricia Tonin; Steven Narod; Pam K. Bristow; Frank H. Norris; Leah Helvering; Paul Morrison; Paul Rosteck; Mei Lai; J. Carl Barrett; Cathryn Lewis; Susan Neuhausen; Lisa Cannon-Albright; David Goldgar; Roger Wiseman; Alexander Kamb; Mark H. Skolnick

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

Yoshio Miki, Jeff Swensen, Donna Shattuck-Eidens, P. Andrew Futreal, Keith Harshman, Sean Tavtigian, Qingyun Liu, Charles Cochran, L. Michelle Bennett, Wei Ding, Russell Bell, Judith Rosenthal, Charles Hussey, Thanh Tran, Melody McClure, Cheryl Frye, Tom Hattier, Robert Phelps, Astrid Haugen-Strano, Harold KatcherKazuko Yakumo, Zahra Gholami, Daniel Shaffer, Steven Stone, Steven Bayer, Christian Wray, Robert Bogden, Priya Dayananth, John Ward, Patricia Tonin, Steven Narod, Pam K. Bristow, Frank H. Norris, Leah Helvering, Paul Morrison, Paul Rosteck, Mei Lai, J. Carl Barrett, Cathryn Lewis, Susan Neuhausen, Lisa Cannon-Albright, David Goldgar, Roger Wiseman, Alexander Kamb, Mark H. Skolnick

Research output: Contribution to journal › Review article › peer-review

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Abstract

A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have been detected in five of eight kindreds presumed to segregate BRCA1 susceptibility alleles. The mutations include an 11-base pair deletion, a 1-base pair insertion, a stop codon, a missense substitution, and an inferred regulatory mutation. The BRCA1 gene is expressed in numerous tissues, including breast and ovary, and encodes a predicted protein of 1863 amino acids. This protein contains a zinc finger domain in its amino-terminal region, but is otherwise unrelated to previously described proteins. Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology.

Original language	English (US)
Pages (from-to)	66-71
Number of pages	6
Journal	Science
Volume	266
Issue number	5182
State	Published - Oct 7 1994
Externally published	Yes

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Miki, Y., Swensen, J., Shattuck-Eidens, D., Futreal, P. A., Harshman, K., Tavtigian, S., Liu, Q., Cochran, C., Bennett, L. M., Ding, W., Bell, R., Rosenthal, J., Hussey, C., Tran, T., McClure, M., Frye, C., Hattier, T., Phelps, R., Haugen-Strano, A., ... Skolnick, M. H. (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266(5182), 66-71.

Miki, Y, Swensen, J, Shattuck-Eidens, D, Futreal, PA, Harshman, K, Tavtigian, S, Liu, Q, Cochran, C, Bennett, LM, Ding, W, Bell, R, Rosenthal, J, Hussey, C, Tran, T, McClure, M, Frye, C, Hattier, T, Phelps, R, Haugen-Strano, A, Katcher, H, Yakumo, K, Gholami, Z, Shaffer, D, Stone, S, Bayer, S, Wray, C, Bogden, R, Dayananth, P, Ward, J, Tonin, P, Narod, S, Bristow, PK, Norris, FH, Helvering, L, Morrison, P, Rosteck, P, Lai, M, Barrett, JC, Lewis, C, Neuhausen, S, Cannon-Albright, L, Goldgar, D, Wiseman, R, Kamb, A & Skolnick, MH 1994, 'A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1', Science, vol. 266, no. 5182, pp. 66-71.

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title = "A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1",

abstract = "A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have been detected in five of eight kindreds presumed to segregate BRCA1 susceptibility alleles. The mutations include an 11-base pair deletion, a 1-base pair insertion, a stop codon, a missense substitution, and an inferred regulatory mutation. The BRCA1 gene is expressed in numerous tissues, including breast and ovary, and encodes a predicted protein of 1863 amino acids. This protein contains a zinc finger domain in its amino-terminal region, but is otherwise unrelated to previously described proteins. Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology.",

author = "Yoshio Miki and Jeff Swensen and Donna Shattuck-Eidens and Futreal, {P. Andrew} and Keith Harshman and Sean Tavtigian and Qingyun Liu and Charles Cochran and Bennett, {L. Michelle} and Wei Ding and Russell Bell and Judith Rosenthal and Charles Hussey and Thanh Tran and Melody McClure and Cheryl Frye and Tom Hattier and Robert Phelps and Astrid Haugen-Strano and Harold Katcher and Kazuko Yakumo and Zahra Gholami and Daniel Shaffer and Steven Stone and Steven Bayer and Christian Wray and Robert Bogden and Priya Dayananth and John Ward and Patricia Tonin and Steven Narod and Bristow, {Pam K.} and Norris, {Frank H.} and Leah Helvering and Paul Morrison and Paul Rosteck and Mei Lai and Barrett, {J. Carl} and Cathryn Lewis and Susan Neuhausen and Lisa Cannon-Albright and David Goldgar and Roger Wiseman and Alexander Kamb and Skolnick, {Mark H.}",

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AU - Miki, Yoshio

AU - Swensen, Jeff

AU - Shattuck-Eidens, Donna

AU - Futreal, P. Andrew

AU - Harshman, Keith

AU - Tavtigian, Sean

AU - Liu, Qingyun

AU - Cochran, Charles

AU - Bennett, L. Michelle

AU - Ding, Wei

AU - Bell, Russell

AU - Rosenthal, Judith

AU - Hussey, Charles

AU - Tran, Thanh

AU - McClure, Melody

AU - Frye, Cheryl

AU - Hattier, Tom

AU - Phelps, Robert

AU - Haugen-Strano, Astrid

AU - Katcher, Harold

AU - Yakumo, Kazuko

AU - Gholami, Zahra

AU - Shaffer, Daniel

AU - Stone, Steven

AU - Bayer, Steven

AU - Wray, Christian

AU - Bogden, Robert

AU - Dayananth, Priya

AU - Ward, John

AU - Tonin, Patricia

AU - Narod, Steven

AU - Bristow, Pam K.

AU - Norris, Frank H.

AU - Helvering, Leah

AU - Morrison, Paul

AU - Rosteck, Paul

AU - Lai, Mei

AU - Barrett, J. Carl

AU - Lewis, Cathryn

AU - Neuhausen, Susan

AU - Cannon-Albright, Lisa

AU - Goldgar, David

AU - Wiseman, Roger

AU - Kamb, Alexander

AU - Skolnick, Mark H.

PY - 1994/10/7

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N2 - A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have been detected in five of eight kindreds presumed to segregate BRCA1 susceptibility alleles. The mutations include an 11-base pair deletion, a 1-base pair insertion, a stop codon, a missense substitution, and an inferred regulatory mutation. The BRCA1 gene is expressed in numerous tissues, including breast and ovary, and encodes a predicted protein of 1863 amino acids. This protein contains a zinc finger domain in its amino-terminal region, but is otherwise unrelated to previously described proteins. Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology.

AB - A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have been detected in five of eight kindreds presumed to segregate BRCA1 susceptibility alleles. The mutations include an 11-base pair deletion, a 1-base pair insertion, a stop codon, a missense substitution, and an inferred regulatory mutation. The BRCA1 gene is expressed in numerous tissues, including breast and ovary, and encodes a predicted protein of 1863 amino acids. This protein contains a zinc finger domain in its amino-terminal region, but is otherwise unrelated to previously described proteins. Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology.

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ER -

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

Abstract

ASJC Scopus subject areas

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