de la Hoya, Miguel
ORCID: 0000-0002-8113-1410, Soukarieh, Omar
ORCID: 0000-0003-4923-4353, Lopez-Perolio, Irene, Vega, Ana, Walker, Logan C., van Ierland, Yvette, Baralle, Diana
ORCID: 0000-0003-3217-4833, Santamarina, Marta, Lattimore, Vanessa, Wijnen, Juul, Whiley, Philip, Blanco, Ana, Raponi, Michela, Hauke, Jan, Wappenschmidt, Barbara, Becker, Alexandra, Hansen, Thomas V. O., Behar, Raquel, Niederacher, Diether, Arnold, Norbert
ORCID: 0000-0003-4523-8808, 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, Peto, Julian, Johnson, Nichola, Burwinkel, Barbara, Surowy, Harald
ORCID: 0000-0002-3595-9188, Bojesen, Stig E., Flyger, Henrik, Lindblom, Annika, Margolin, Sara, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo
ORCID: 0000-0001-6298-4111, Galastri, Laura, Olson, Janet E., Hallberg, Emily, Giles, GrahamG., Milne, Roger L., Andrulis, Irene L., Glendon, Gord, Hall, Per, Czene, Kamila, Blows, Fiona, Shah, Mitul, Wang, Qin, Dennis, Joe, Michailidou, Kyriaki
ORCID: 0000-0001-7065-1237, McGuffog, Lesley, Bolla, Manjeet K., Antoniou, Antonis C., Easton, Douglas F., Couch, Fergus J., Tavtigian, Sean, Vreeswijk, Maaike P., Parsons, Michael
ORCID: 0000-0003-3242-8477, Meeks, Huong D., Martins, Alexandra
ORCID: 0000-0003-4322-8497, Goldgar, David E. and Spurdle, Amanda 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.
Hum. Mol. Genet., 25 (11).
S. 2256 - 2269.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
Full text not available from this repository.
Abstract
We confirm that BRCA1c.[594-2A > C;641A > G] should not be considered a high-risk pathogenic variant. Importantly, results from our detailed mRNA analysis suggest that BRCA-associated cancer risk is likely not markedly increased for individuals who carry a truncating variant in BRCA1 exons 9 or 10, or any other BRCA1 allele that permits 20-30% of tumor suppressor function. More generally, our findings highlight the importance of assessing naturally occurring alternative splicing for clinical evaluation of variants in disease-causing genes.
Item Type: |
Journal Article
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Creators: |
Creators | Email | ORCID | ORCID Put Code |
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de la Hoya, Miguel | UNSPECIFIED | orcid.org/0000-0002-8113-1410 | UNSPECIFIED | Soukarieh, Omar | UNSPECIFIED | orcid.org/0000-0003-4923-4353 | UNSPECIFIED | Lopez-Perolio, Irene | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vega, Ana | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Walker, Logan C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | van Ierland, Yvette | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Baralle, Diana | UNSPECIFIED | orcid.org/0000-0003-3217-4833 | UNSPECIFIED | Santamarina, Marta | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lattimore, Vanessa | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wijnen, Juul | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Whiley, Philip | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Blanco, Ana | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Raponi, Michela | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hauke, Jan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wappenschmidt, Barbara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Becker, Alexandra | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hansen, Thomas V. O. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Behar, Raquel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Niederacher, Diether | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Arnold, Norbert | UNSPECIFIED | orcid.org/0000-0003-4523-8808 | UNSPECIFIED | Dworniczak, Bernd | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Steinemann, Doris | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Faust, Ulrike | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rubinstein, Wendy | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hulick, Peter J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Houdayer, Claude | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Caputo, Sandrine M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Castera, Laurent | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pesaran, Tina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chao, Elizabeth | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brewer, Carole | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Southey, Melissa C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | van Asperen, Christi J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Singer, Christian F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sullivan, Jan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Poplawski, Nicola | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Peto, Julian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Johnson, Nichola | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Burwinkel, Barbara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Surowy, Harald | UNSPECIFIED | orcid.org/0000-0002-3595-9188 | UNSPECIFIED | Bojesen, Stig E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Flyger, Henrik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lindblom, Annika | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Margolin, Sara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chang-Claude, Jenny | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rudolph, Anja | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Radice, Paolo | UNSPECIFIED | orcid.org/0000-0001-6298-4111 | UNSPECIFIED | Galastri, Laura | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Olson, Janet E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hallberg, Emily | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Giles, GrahamG. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Milne, Roger L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Andrulis, Irene L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Glendon, Gord | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hall, Per | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Czene, Kamila | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Blows, Fiona | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Shah, Mitul | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wang, Qin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dennis, Joe | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Michailidou, Kyriaki | UNSPECIFIED | orcid.org/0000-0001-7065-1237 | UNSPECIFIED | McGuffog, Lesley | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bolla, Manjeet K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Antoniou, Antonis C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Easton, Douglas F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Couch, Fergus J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tavtigian, Sean | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vreeswijk, Maaike P. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Parsons, Michael | UNSPECIFIED | orcid.org/0000-0003-3242-8477 | UNSPECIFIED | Meeks, Huong D. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Martins, Alexandra | UNSPECIFIED | orcid.org/0000-0003-4322-8497 | UNSPECIFIED | Goldgar, David E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Spurdle, Amanda B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED |
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URN: |
urn:nbn:de:hbz:38-274532 |
DOI: |
10.1093/hmg/ddw094 |
Journal or Publication Title: |
Hum. Mol. Genet. |
Volume: |
25 |
Number: |
11 |
Page Range: |
S. 2256 - 2269 |
Date: |
2016 |
Publisher: |
OXFORD UNIV PRESS |
Place of Publication: |
OXFORD |
ISSN: |
1460-2083 |
Language: |
English |
Faculty: |
Unspecified |
Divisions: |
Unspecified |
Subjects: |
no entry |
Uncontrolled Keywords: |
Keywords | Language |
---|
SEQUENCE VARIANTS; CLINICAL-SIGNIFICANCE; ASSAY; GUIDELINES; PROTEIN; BREAST; SITE | Multiple languages | Biochemistry & Molecular Biology; Genetics & Heredity | Multiple languages |
|
Refereed: |
Yes |
URI: |
http://kups.ub.uni-koeln.de/id/eprint/27453 |
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