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

ENIGMA; Rita Dias Brandão; Encarna Gomez Garcia; Rien M. J. Blok

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

ENIGMA, Rita Dias Brandão, Encarna Gomez Garcia, Rien M. J. Blok

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

178 Citations (Web of Science)

Original language	English
Pages (from-to)	2-7
Journal	Human Mutation
Volume	33
Issue number	1
DOIs	https://doi.org/10.1002/humu.21628
Publication status	Published - Jan 2012

Keywords

unclassified variant
consortium
BRCA1/BRCA2
international collaboration

Access to Document

10.1002/humu.21628

Cite this

@article{ea3aa7b7dbc948db91499f868f6f34ce,

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",

author = "Spurdle, {Amanda B.} and Sue Healey and Andrew Devereau and Hogervorst, {Frans B. L.} and Monteiro, {Alvaro N.} and Nathanson, {Katherine L.} and Paolo Radice and Dominique Stoppa-Lyonnet and Tavtigian, {Sean V.} and Barbara Wappenschmidt and Couch, {Fergus J.} and ENIGMA and {Dias Brand{\~a}o}, Rita and {Gomez Garcia}, Encarna and Blok, {Rien M. J.} and Goldgar, {David E.}",

year = "2012",

month = jan,

doi = "10.1002/humu.21628",

language = "English",

volume = "33",

pages = "2--7",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley",

number = "1",

}

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. / ENIGMA; Dias Brandão, Rita; Gomez Garcia, Encarna; Blok, Rien M. J.

In: Human Mutation, Vol. 33, No. 1, 01.2012, p. 2-7.

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

TY - JOUR

T1 - 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

AU - Spurdle, Amanda B.

AU - Healey, Sue

AU - Devereau, Andrew

AU - Hogervorst, Frans B. L.

AU - Monteiro, Alvaro N.

AU - Nathanson, Katherine L.

AU - Radice, Paolo

AU - Stoppa-Lyonnet, Dominique

AU - Tavtigian, Sean V.

AU - Wappenschmidt, Barbara

AU - Couch, Fergus J.

AU - ENIGMA

AU - Dias Brandão, Rita

AU - Gomez Garcia, Encarna

AU - Blok, Rien M. J.

AU - Goldgar, David E.

PY - 2012/1

Y1 - 2012/1

KW - unclassified variant

KW - consortium

KW - BRCA1/BRCA2

KW - international collaboration

U2 - 10.1002/humu.21628

DO - 10.1002/humu.21628

M3 - Article

VL - 33

SP - 2

EP - 7

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 1

ER -