ENIGMA-Evidence-Based Network for the Interpretation of Germline Mutant Alleles: An International Initiative to Evaluate Risk and Clinical Significance Associated with Sequence Variation in BRCA1 and BRCA2 Genes

Amanda B. Spurdle; Sue Healey; Andrew Devereau; Frans B. L. Hogervorst; Alvaro N. A. Monteiro; Katherine L. Nathanson; Paolo Radice; Dominique Stoppa-Lyonnet; Sean Tavtigian; Barbara Wappenschmidt; Fergus J. Couch; David E. Goldgar; ENIGMA; Heli Nevanlinna

doi:10.1002/humu.21628

ENIGMA-Evidence-Based Network for the Interpretation of Germline Mutant Alleles: An International Initiative to Evaluate Risk and Clinical Significance Associated with Sequence Variation in BRCA1 and BRCA2 Genes

Amanda B. Spurdle, Sue Healey, Andrew Devereau, Frans B. L. Hogervorst, Alvaro N. A. Monteiro, Katherine L. Nathanson, Paolo Radice, Dominique Stoppa-Lyonnet, Sean Tavtigian, Barbara Wappenschmidt, Fergus J. Couch, David E. Goldgar, ENIGMA, Heli Nevanlinna

Department of Obstetrics and Gynecology

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

Original language	English
Journal	Human mutation
Volume	33
Issue number	1
Pages (from-to)	2-7
Number of pages	6
ISSN	1059-7794
DOIs	https://doi.org/10.1002/humu.21628
Publication status	Published - Jan 2012
MoE publication type	A1 Journal article-refereed

Bibliographical note

H. Nevanlinna ENIGMA-työryhmän jäsen, joita yht. 102.

Fields of Science

unclassified variant
consortium
BRCA1/BRCA2
international collaboration
UNCERTAIN SIGNIFICANCE
MISSENSE SUBSTITUTIONS
CANCER SUSCEPTIBILITY
SPLICING ABERRATIONS
VARIANTS
CLASSIFICATION
BREAST
PREDICTION
RECOMMENDATIONS
MANAGEMENT
3111 Biomedicine
1184 Genetics, developmental biology, physiology

Access to Document

10.1002/humu.21628

Cite this

Spurdle, A. B., Healey, S., Devereau, A., Hogervorst, F. B. L., Monteiro, A. N. A., Nathanson, K. L., Radice, P., Stoppa-Lyonnet, D., Tavtigian, S., Wappenschmidt, B., Couch, F. J., Goldgar, D. E., ENIGMA, & Nevanlinna, H. (2012). ENIGMA-Evidence-Based Network for the Interpretation of Germline Mutant Alleles: An International Initiative to Evaluate Risk and Clinical Significance Associated with Sequence Variation in BRCA1 and BRCA2 Genes. Human mutation, 33(1), 2-7. https://doi.org/10.1002/humu.21628

@article{8a3fa447c10f4d15beb31b543632c6a3,

title = "ENIGMA-Evidence-Based Network for the Interpretation of Germline Mutant Alleles: An International Initiative to Evaluate Risk and Clinical Significance Associated with Sequence Variation in BRCA1 and BRCA2 Genes",

keywords = "unclassified variant, consortium, BRCA1/BRCA2, international collaboration, UNCERTAIN SIGNIFICANCE, MISSENSE SUBSTITUTIONS, CANCER SUSCEPTIBILITY, SPLICING ABERRATIONS, VARIANTS, CLASSIFICATION, BREAST, PREDICTION, RECOMMENDATIONS, MANAGEMENT, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "Spurdle, {Amanda B.} and Sue Healey and Andrew Devereau and Hogervorst, {Frans B. L.} and Monteiro, {Alvaro N. A.} and Nathanson, {Katherine L.} and Paolo Radice and Dominique Stoppa-Lyonnet and Sean Tavtigian and Barbara Wappenschmidt and Couch, {Fergus J.} and Goldgar, {David E.} and ENIGMA and Heli Nevanlinna",

note = "H. Nevanlinna ENIGMA-ty{\"o}ryhm{\"a}n j{\"a}sen, joita yht. 102. ",

year = "2012",

month = jan,

doi = "10.1002/humu.21628",

language = "English",

volume = "33",

pages = "2--7",

journal = "Human mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

number = "1",

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Spurdle, AB, Healey, S, Devereau, A, Hogervorst, FBL, Monteiro, ANA, Nathanson, KL, Radice, P, Stoppa-Lyonnet, D, Tavtigian, S, Wappenschmidt, B, Couch, FJ, Goldgar, DE, ENIGMA & Nevanlinna, H 2012, 'ENIGMA-Evidence-Based Network for the Interpretation of Germline Mutant Alleles: An International Initiative to Evaluate Risk and Clinical Significance Associated with Sequence Variation in BRCA1 and BRCA2 Genes', Human mutation, vol. 33, no. 1, pp. 2-7. https://doi.org/10.1002/humu.21628

ENIGMA-Evidence-Based Network for the Interpretation of Germline Mutant Alleles: An International Initiative to Evaluate Risk and Clinical Significance Associated with Sequence Variation in BRCA1 and BRCA2 Genes. / Spurdle, Amanda B.; Healey, Sue; Devereau, Andrew et al.
In: Human mutation, Vol. 33, No. 1, 01.2012, p. 2-7.

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

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AU - Spurdle, Amanda B.

AU - Healey, Sue

AU - Devereau, Andrew

AU - Hogervorst, Frans B. L.

AU - Monteiro, Alvaro N. A.

AU - Nathanson, Katherine L.

AU - Radice, Paolo

AU - Stoppa-Lyonnet, Dominique

AU - Tavtigian, Sean

AU - Wappenschmidt, Barbara

AU - Couch, Fergus J.

AU - Goldgar, David E.

AU - ENIGMA

AU - Nevanlinna, Heli

N1 - H. Nevanlinna ENIGMA-työryhmän jäsen, joita yht. 102.

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KW - BRCA1/BRCA2

KW - international collaboration

KW - UNCERTAIN SIGNIFICANCE

KW - MISSENSE SUBSTITUTIONS

KW - CANCER SUSCEPTIBILITY

KW - SPLICING ABERRATIONS

KW - VARIANTS

KW - CLASSIFICATION

KW - BREAST

KW - PREDICTION

KW - RECOMMENDATIONS

KW - MANAGEMENT

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1002/humu.21628

DO - 10.1002/humu.21628

M3 - Article

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JO - Human mutation

JF - Human mutation

IS - 1

ER -