The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

S Moghadasi; H D Meeks; MPG Vreeswijk; LAM Janssen; A Borg; H Ehrencrona; Y Paulsson-Karlsson; B Wappenschmidt; C Engel; A Gehrig; N Arnold; TV Hansen; Marga Thomassen; UB Jensen; TA Kruse; B Ejlertsen; AM Gerdes; IS Pedersen; SM Caputo; F Couch; EJ Hallberg; Ans van den Ouweland; Margriet Collee; E Teugels; MA Adank; RB van der Luijt; AR Mensenkamp; JC Oosterwijk; MJ Blok; N Janin; KBM Claes; K Tucker; V Viassolo; AE Toland; DE Eccles; P Devilee; CJ van Asperen; AB Spurdle; DE Goldgar; EG Garcia

doi:10.1136/jmedgenet-2017-104560

The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

S Moghadasi, H D Meeks, MPG Vreeswijk, LAM Janssen, A Borg, H Ehrencrona, Y Paulsson-Karlsson, B Wappenschmidt, C Engel, A Gehrig, N Arnold, TV Hansen, Marga Thomassen, UB Jensen, TA Kruse, B Ejlertsen, AM Gerdes, IS Pedersen, SM Caputo, F CouchEJ Hallberg, Ans van den Ouweland, Margriet Collee, E Teugels, MA Adank, RB van der Luijt, AR Mensenkamp, JC Oosterwijk, MJ Blok, N Janin, KBM Claes, K Tucker, V Viassolo, AE Toland, DE Eccles, P Devilee, CJ van Asperen, AB Spurdle, DE Goldgar, EG Garcia

Clinical Genetics

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

51 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	15-20
Number of pages	6
Journal	Journal of Medical Genetics
Volume	55
Issue number	1
DOIs	https://doi.org/10.1136/jmedgenet-2017-104560
Publication status	Published - 2018

Research programs

EMC OR-01

UN SDGs

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

Access to Document

10.1136/jmedgenet-2017-104560

http://hdl.handle.net/1765/105670

Cite this

Moghadasi, S., Meeks, H. D., Vreeswijk, MPG., Janssen, LAM., Borg, A., Ehrencrona, H., Paulsson-Karlsson, Y., Wappenschmidt, B., Engel, C., Gehrig, A., Arnold, N., Hansen, TV., Thomassen, M., Jensen, UB., Kruse, TA., Ejlertsen, B., Gerdes, AM., Pedersen, IS., Caputo, SM., ... Garcia, EG. (2018). The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. Journal of Medical Genetics, 55(1), 15-20. https://doi.org/10.1136/jmedgenet-2017-104560

@article{9658ee4bd3d74feca3c6ff276a6fe2e8,

title = "The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium",

author = "S Moghadasi and Meeks, {H D} and MPG Vreeswijk and LAM Janssen and A Borg and H Ehrencrona and Y Paulsson-Karlsson and B Wappenschmidt and C Engel and A Gehrig and N Arnold and TV Hansen and Marga Thomassen and UB Jensen and TA Kruse and B Ejlertsen and AM Gerdes and IS Pedersen and SM Caputo and F Couch and EJ Hallberg and {van den Ouweland}, Ans and Margriet Collee and E Teugels and MA Adank and {van der Luijt}, RB and AR Mensenkamp and JC Oosterwijk and MJ Blok and N Janin and KBM Claes and K Tucker and V Viassolo and AE Toland and DE Eccles and P Devilee and {van Asperen}, CJ and AB Spurdle and DE Goldgar and EG Garcia",

year = "2018",

doi = "10.1136/jmedgenet-2017-104560",

language = "Undefined/Unknown",

volume = "55",

pages = "15--20",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "1",

}

Moghadasi, S, Meeks, HD, Vreeswijk, MPG, Janssen, LAM, Borg, A, Ehrencrona, H, Paulsson-Karlsson, Y, Wappenschmidt, B, Engel, C, Gehrig, A, Arnold, N, Hansen, TV, Thomassen, M, Jensen, UB, Kruse, TA, Ejlertsen, B, Gerdes, AM, Pedersen, IS, Caputo, SM, Couch, F, Hallberg, EJ, van den Ouweland, A, Collee, M, Teugels, E, Adank, MA, van der Luijt, RB, Mensenkamp, AR, Oosterwijk, JC, Blok, MJ, Janin, N, Claes, KBM, Tucker, K, Viassolo, V, Toland, AE, Eccles, DE, Devilee, P, van Asperen, CJ, Spurdle, AB, Goldgar, DE & Garcia, EG 2018, 'The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium', Journal of Medical Genetics, vol. 55, no. 1, pp. 15-20. https://doi.org/10.1136/jmedgenet-2017-104560

The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. / Moghadasi, S; Meeks, H D; Vreeswijk, MPG et al.
In: Journal of Medical Genetics, Vol. 55, No. 1, 2018, p. 15-20.

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

TY - JOUR

T1 - The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

AU - Moghadasi, S

AU - Meeks, H D

AU - Vreeswijk, MPG

AU - Janssen, LAM

AU - Borg, A

AU - Ehrencrona, H

AU - Paulsson-Karlsson, Y

AU - Wappenschmidt, B

AU - Engel, C

AU - Gehrig, A

AU - Arnold, N

AU - Hansen, TV

AU - Thomassen, Marga

AU - Jensen, UB

AU - Kruse, TA

AU - Ejlertsen, B

AU - Gerdes, AM

AU - Pedersen, IS

AU - Caputo, SM

AU - Couch, F

AU - Hallberg, EJ

AU - van den Ouweland, Ans

AU - Collee, Margriet

AU - Teugels, E

AU - Adank, MA

AU - van der Luijt, RB

AU - Mensenkamp, AR

AU - Oosterwijk, JC

AU - Blok, MJ

AU - Janin, N

AU - Claes, KBM

AU - Tucker, K

AU - Viassolo, V

AU - Toland, AE

AU - Eccles, DE

AU - Devilee, P

AU - van Asperen, CJ

AU - Spurdle, AB

AU - Goldgar, DE

AU - Garcia, EG

PY - 2018

Y1 - 2018

U2 - 10.1136/jmedgenet-2017-104560

DO - 10.1136/jmedgenet-2017-104560

M3 - Article

C2 - 28490613

SN - 0022-2593

VL - 55

SP - 15

EP - 20

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 1

ER -