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 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 TV, 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 P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, 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

Open source

DOI: 10.1093/hmg/ddw094
Published: 2016 Jun 1
Container: Human molecular genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1093/hmg/ddw094,
  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 M and Soukarieh O and López-Perolio I and Vega A and Walker LC and van Ierland Y and Baralle D and Santamariña M and Lattimore V and Wijnen J and Whiley P and Blanco A and Raponi M and Hauke J and Wappenschmidt B and Becker A and Hansen TV and Behar R and Investigators K and Niederacher D and Arnold N and Dworniczak B and Steinemann D and Faust U and Rubinstein W and Hulick PJ and Houdayer C and Caputo SM and Castera L and Pesaran T and Chao E and Brewer C and Southey MC and van Asperen CJ and Singer CF and Sullivan J and Poplawski N and Mai P and Peto J and Johnson N and Burwinkel B and Surowy H and Bojesen SE and Flyger H and Lindblom A and Margolin S and Chang-Claude J and Rudolph A and Radice P and Galastri L and Olson JE and Hallberg E and Giles GG and Milne RL and Andrulis IL and Glendon G and Hall P and Czene K and Blows F and Shah M and Wang Q and Dennis J and Michailidou K and McGuffog L and Bolla MK and Antoniou AC and Easton DF and Couch FJ and Tavtigian S and Vreeswijk MP and Parsons M and Meeks HD and Martins A and Goldgar DE and Spurdle AB},
  year = {2016},
  journal = {Human molecular genetics},
  doi = {10.1093/hmg/ddw094},
  url = {https://doi.org/10.1093/hmg/ddw094}
}

RIS

TY  - JOUR
TI  - 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 M
AU  - Soukarieh O
AU  - López-Perolio I
AU  - Vega A
AU  - Walker LC
AU  - van Ierland Y
AU  - Baralle D
AU  - Santamariña M
AU  - Lattimore V
AU  - Wijnen J
AU  - Whiley P
AU  - Blanco A
AU  - Raponi M
AU  - Hauke J
AU  - Wappenschmidt B
AU  - Becker A
AU  - Hansen TV
AU  - Behar R
AU  - Investigators K
AU  - Niederacher D
AU  - Arnold N
AU  - Dworniczak B
AU  - Steinemann D
AU  - Faust U
AU  - Rubinstein W
AU  - Hulick PJ
AU  - Houdayer C
AU  - Caputo SM
AU  - Castera L
AU  - Pesaran T
AU  - Chao E
AU  - Brewer C
AU  - Southey MC
AU  - van Asperen CJ
AU  - Singer CF
AU  - Sullivan J
AU  - Poplawski N
AU  - Mai P
AU  - Peto J
AU  - Johnson N
AU  - Burwinkel B
AU  - Surowy H
AU  - Bojesen SE
AU  - Flyger H
AU  - Lindblom A
AU  - Margolin S
AU  - Chang-Claude J
AU  - Rudolph A
AU  - Radice P
AU  - Galastri L
AU  - Olson JE
AU  - Hallberg E
AU  - Giles GG
AU  - Milne RL
AU  - Andrulis IL
AU  - Glendon G
AU  - Hall P
AU  - Czene K
AU  - Blows F
AU  - Shah M
AU  - Wang Q
AU  - Dennis J
AU  - Michailidou K
AU  - McGuffog L
AU  - Bolla MK
AU  - Antoniou AC
AU  - Easton DF
AU  - Couch FJ
AU  - Tavtigian S
AU  - Vreeswijk MP
AU  - Parsons M
AU  - Meeks HD
AU  - Martins A
AU  - Goldgar DE
AU  - Spurdle AB
PY  - 2016
JO  - Human molecular genetics
DO  - 10.1093/hmg/ddw094
UR  - https://doi.org/10.1093/hmg/ddw094
ER  -

APA

M, D. L. H., O, S., I, L., A, V., LC, W., Y, V. I., D, B., M, S., V, L., J, W., P, W., A, B., M, R., J, H., B, W., A, B., TV, H., R, B., K, I., D, N., N, A., B, D., D, S., U, F., W, R., PJ, H., C, H., SM, C., L, C., T, P., E, C., C, B., MC, S., CJ, V. A., CF, S., J, S., N, P., P, M., J, P., N, J., B, B., H, S., SE, B., H, F., A, L., S, M., J, C., A, R., P, R., L, G., JE, O., E, H., GG, G., RL, M., IL, A., G, G., P, H., K, C., F, B., M, S., Q, W., J, D., K, M., L, M., MK, B., AC, A., DF, E., FJ, C., S, T., MP, V., M, P., HD, M., A, M., DE, G., & AB, S. (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. https://doi.org/10.1093/hmg/ddw094

Source records

pubmed · retrieved 2026-09-26T03:43:10.753Z