Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Research output: Contribution to journalJournal articlepeer-review

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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. / de la Hoya, Miguel; Soukarieh, Omar; López-perolio, Irene; Vega, Ana; Walker, Logan C; Van Ierland, Yvette; Baralle, Diana; Santamariña, Marta; Lattimore, Vanessa; Wijnen, Juul; Whiley, Philip; Blanco, Ana; Raponi, Michela; Hauke, Jan; Wappenschmidt, Barbara; Becker, Alexandra; Hansen, Thomas v O; Behar, Raquel; Investigators, Kconfab; Niederacher, Diether; Arnold, Norbert; Dworniczak, Bernd; Steinemann, Doris; Faust, Ulrike; Rubinstein, Wendy; Hulick, Peter J; Houdayer, Claude; Caputo, Sandrine M.; Castera, Laurent; Pesaran, Tina; Chao, Elizabeth; Brewer, Carole; Southey, Melissa C; van Asperen, Christi J; Singer, Christian F; Sullivan, Jan; Poplawski, Nicola; Mai, Phuong L; Peto, Julian; Johnson, Nichola; Burwinkel, Barbara; Surowy, Harald M; Bojesen, Stig E.; Flyger, Henrik; Lindblom, Annika; Margolin, Sara; Chang-Claude, Jenny; Rudolph, Anja; Radice, Paolo; Galastri, Laura; Olson, Janet E; Hallberg, Emily; Giles, Graham; Milne, Roger L; Andrulis, Irene L; Glendon, Gord; Hall, Per; Czene, Kamila; Blows, Fiona; Shah, Mitul; Wang, Qin; Dennis, Joe; Michailidou, Kyriaki; McGuffog, Lesley; Bolla, Manjeet K; Antoniou, Antonis C; Easton, Douglas F; Couch, Fergus J; Tavtigian, Sean; Vreeswijk, Maaike P; Parsons, Michael; Meeks, Huong D; Martins, Alexandra; Goldgar, David E; Spurdle, Amanda B.

In: Human Molecular Genetics, Vol. 25, No. 11, 2016, p. 2256-2268.

Research output: Contribution to journalJournal articlepeer-review

Harvard

de la Hoya, M, Soukarieh, O, López-perolio, I, Vega, A, Walker, LC, Van Ierland, Y, Baralle, D, Santamariña, M, Lattimore, V, Wijnen, J, Whiley, P, Blanco, A, Raponi, M, Hauke, J, Wappenschmidt, B, Becker, A, Hansen, TVO, Behar, R, Investigators, K, Niederacher, D, Arnold, N, Dworniczak, B, Steinemann, D, Faust, U, Rubinstein, W, Hulick, PJ, Houdayer, C, Caputo, SM, Castera, L, Pesaran, T, Chao, E, Brewer, C, Southey, MC, van Asperen, CJ, Singer, CF, Sullivan, J, Poplawski, N, Mai, PL, Peto, J, Johnson, N, Burwinkel, B, Surowy, HM, Bojesen, SE, Flyger, H, Lindblom, A, Margolin, S, Chang-Claude, J, Rudolph, A, Radice, P, Galastri, L, Olson, JE, Hallberg, E, Giles, G, Milne, RL, Andrulis, IL, Glendon, G, Hall, P, Czene, K, Blows, F, Shah, M, Wang, Q, Dennis, J, Michailidou, K, McGuffog, L, Bolla, MK, Antoniou, AC, Easton, DF, Couch, FJ, Tavtigian, S, Vreeswijk, MP, Parsons, M, Meeks, HD, Martins, A, Goldgar, DE & Spurdle, AB 2016, 'Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms', Human Molecular Genetics, vol. 25, no. 11, pp. 2256-2268. https://doi.org/10.1093/hmg/ddw094

APA

de la Hoya, M., Soukarieh, O., López-perolio, I., Vega, A., Walker, L. C., Van Ierland, Y., Baralle, D., Santamariña, M., Lattimore, V., Wijnen, J., Whiley, P., Blanco, A., Raponi, M., Hauke, J., Wappenschmidt, B., Becker, A., Hansen, T. V. O., Behar, R., Investigators, K., ... Spurdle, A. B. (2016). Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Human Molecular Genetics, 25(11), 2256-2268. https://doi.org/10.1093/hmg/ddw094

Vancouver

de la Hoya M, Soukarieh O, López-perolio I, Vega A, Walker LC, Van Ierland Y et al. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Human Molecular Genetics. 2016;25(11):2256-2268. https://doi.org/10.1093/hmg/ddw094

Author

de la Hoya, Miguel ; Soukarieh, Omar ; López-perolio, Irene ; Vega, Ana ; Walker, Logan C ; Van Ierland, Yvette ; Baralle, Diana ; Santamariña, Marta ; Lattimore, Vanessa ; Wijnen, Juul ; Whiley, Philip ; Blanco, Ana ; Raponi, Michela ; Hauke, Jan ; Wappenschmidt, Barbara ; Becker, Alexandra ; Hansen, Thomas v O ; Behar, Raquel ; Investigators, Kconfab ; Niederacher, Diether ; Arnold, Norbert ; Dworniczak, Bernd ; Steinemann, Doris ; Faust, Ulrike ; Rubinstein, Wendy ; Hulick, Peter J ; Houdayer, Claude ; Caputo, Sandrine M. ; Castera, Laurent ; Pesaran, Tina ; Chao, Elizabeth ; Brewer, Carole ; Southey, Melissa C ; van Asperen, Christi J ; Singer, Christian F ; Sullivan, Jan ; Poplawski, Nicola ; Mai, Phuong L ; Peto, Julian ; Johnson, Nichola ; Burwinkel, Barbara ; Surowy, Harald M ; Bojesen, Stig E. ; Flyger, Henrik ; Lindblom, Annika ; Margolin, Sara ; Chang-Claude, Jenny ; Rudolph, Anja ; Radice, Paolo ; Galastri, Laura ; Olson, Janet E ; Hallberg, Emily ; Giles, Graham ; Milne, Roger L ; Andrulis, Irene L ; Glendon, Gord ; Hall, Per ; Czene, Kamila ; Blows, Fiona ; Shah, Mitul ; Wang, Qin ; Dennis, Joe ; Michailidou, Kyriaki ; McGuffog, Lesley ; Bolla, Manjeet K ; Antoniou, Antonis C ; Easton, Douglas F ; Couch, Fergus J ; Tavtigian, Sean ; Vreeswijk, Maaike P ; Parsons, Michael ; Meeks, Huong D ; Martins, Alexandra ; Goldgar, David E ; Spurdle, Amanda B. / Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. In: Human Molecular Genetics. 2016 ; Vol. 25, No. 11. pp. 2256-2268.

Bibtex

@article{f9c35af8f7724c3e84278f5be52900f5,
title = "Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms",
author = "{de la Hoya}, Miguel and Omar Soukarieh and Irene L{\'o}pez-perolio and Ana Vega and Walker, {Logan C} and {Van Ierland}, Yvette and Diana Baralle and Marta Santamari{\~n}a and Vanessa Lattimore and Juul Wijnen and Philip Whiley and Ana Blanco and Michela Raponi and Jan Hauke and Barbara Wappenschmidt and Alexandra Becker and Hansen, {Thomas v O} and Raquel Behar and Kconfab Investigators and Diether Niederacher and Norbert Arnold and Bernd Dworniczak and Doris Steinemann and Ulrike Faust and Wendy Rubinstein and Hulick, {Peter J} and Claude Houdayer and Caputo, {Sandrine M.} and Laurent Castera and Tina Pesaran and Elizabeth Chao and Carole Brewer and Southey, {Melissa C} and {van Asperen}, {Christi J} and Singer, {Christian F} and Jan Sullivan and Nicola Poplawski and Mai, {Phuong L} and Julian Peto and Nichola Johnson and Barbara Burwinkel and Surowy, {Harald M} and Bojesen, {Stig E.} and Henrik Flyger and Annika Lindblom and Sara Margolin and Jenny Chang-Claude and Anja Rudolph and Paolo Radice and Laura Galastri and Olson, {Janet E} and Emily Hallberg and Graham Giles and Milne, {Roger L} and Andrulis, {Irene L} and Gord Glendon and Per Hall and Kamila Czene and Fiona Blows and Mitul Shah and Qin Wang and Joe Dennis and Kyriaki Michailidou and Lesley McGuffog and Bolla, {Manjeet K} and Antoniou, {Antonis C} and Easton, {Douglas F} and Couch, {Fergus J} and Sean Tavtigian and Vreeswijk, {Maaike P} and Michael Parsons and Meeks, {Huong D} and Alexandra Martins and Goldgar, {David E} and Spurdle, {Amanda B}",
year = "2016",
doi = "10.1093/hmg/ddw094",
language = "English",
volume = "25",
pages = "2256--2268",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "11",

}

RIS

TY - JOUR

T1 - Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

AU - de la Hoya, Miguel

AU - Soukarieh, Omar

AU - López-perolio, Irene

AU - Vega, Ana

AU - Walker, Logan C

AU - Van Ierland, Yvette

AU - Baralle, Diana

AU - Santamariña, Marta

AU - Lattimore, Vanessa

AU - Wijnen, Juul

AU - Whiley, Philip

AU - Blanco, Ana

AU - Raponi, Michela

AU - Hauke, Jan

AU - Wappenschmidt, Barbara

AU - Becker, Alexandra

AU - Hansen, Thomas v O

AU - Behar, Raquel

AU - Investigators, Kconfab

AU - Niederacher, Diether

AU - Arnold, Norbert

AU - Dworniczak, Bernd

AU - Steinemann, Doris

AU - Faust, Ulrike

AU - Rubinstein, Wendy

AU - Hulick, Peter J

AU - Houdayer, Claude

AU - Caputo, Sandrine M.

AU - Castera, Laurent

AU - Pesaran, Tina

AU - Chao, Elizabeth

AU - Brewer, Carole

AU - Southey, Melissa C

AU - van Asperen, Christi J

AU - Singer, Christian F

AU - Sullivan, Jan

AU - Poplawski, Nicola

AU - Mai, Phuong L

AU - Peto, Julian

AU - Johnson, Nichola

AU - Burwinkel, Barbara

AU - Surowy, Harald M

AU - Bojesen, Stig E.

AU - Flyger, Henrik

AU - Lindblom, Annika

AU - Margolin, Sara

AU - Chang-Claude, Jenny

AU - Rudolph, Anja

AU - Radice, Paolo

AU - Galastri, Laura

AU - Olson, Janet E

AU - Hallberg, Emily

AU - Giles, Graham

AU - Milne, Roger L

AU - Andrulis, Irene L

AU - Glendon, Gord

AU - Hall, Per

AU - Czene, Kamila

AU - Blows, Fiona

AU - Shah, Mitul

AU - Wang, Qin

AU - Dennis, Joe

AU - Michailidou, Kyriaki

AU - McGuffog, Lesley

AU - Bolla, Manjeet K

AU - Antoniou, Antonis C

AU - Easton, Douglas F

AU - Couch, Fergus J

AU - Tavtigian, Sean

AU - Vreeswijk, Maaike P

AU - Parsons, Michael

AU - Meeks, Huong D

AU - Martins, Alexandra

AU - Goldgar, David E

AU - Spurdle, Amanda B

PY - 2016

Y1 - 2016

U2 - 10.1093/hmg/ddw094

DO - 10.1093/hmg/ddw094

M3 - Journal article

C2 - 27008870

VL - 25

SP - 2256

EP - 2268

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 11

ER -

ID: 176831209