Jiao, Xiang, Aravidis, Christos, Marikkannu, Rajeshwari, Rantala, Johanna, Picelli, Simone, Adamovic, Tatjana, Liu, Tao, Maguire, Paula, Kremeyer, Barbara, Luo, Liping, Von Holst, Susanna, Kontham, Vinaykumar, Thutkawkorapin, Jessada, Margolin, Sara, Du, Quan, Lundin, Johanna, Michailidou, Kyriaki
ORCID: 0000-0001-7065-1237, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Lush, Michael, Ambrosone, Christine B., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker
ORCID: 0000-0001-9320-8684, Beckmann, Matthias W., Blomqvist, Carl
ORCID: 0000-0003-3041-1938, Blot, William, Boeckx, Bram, Bojesen, Stig E., Bonanni, Bernardo, Brand, Judith S.
ORCID: 0000-0002-3720-1274, Brauch, Hiltrud
ORCID: 0000-0001-7531-2736, Brenner, Hermann
ORCID: 0000-0002-6129-1572, Broeks, Annegien, Bruning, Thomas
ORCID: 0000-0001-9560-5464, Burwinkel, Barbara, Cai, Qiuyin, Chang-Claude, Jenny, Couch, Fergus J., Cox, Angela
ORCID: 0000-0002-5138-1099, Cross, Simon S., Deming-Halverson, Sandra L., Devilee, Peter, dos-Santos-Silva, Isabel, Dork, Thilo
ORCID: 0000-0002-9458-0282, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Flyger, Henrik, Gabrielson, Marike
ORCID: 0000-0002-3171-1556, Garcia-Closas, Montserrat, Giles, Graham G., Gonzalez-Neira, Anna
ORCID: 0000-0002-5421-2020, Guenel, Pascal
ORCID: 0000-0002-8359-518X, Guo, Qi, Gundert, Melanie, Haiman, Christopher A., Hallberg, Emily, Hamann, Ute, Harrington, Patricia, Hooning, Maartje J., Hopper, John L., Huang, Guanmengqian, Jakubowska, Anna
ORCID: 0000-0002-5650-0501, Jones, Michael E., Kerin, Michael J., Kosma, Veli-Matti, Kristensen, Vessela N., Lambrechts, Diether
ORCID: 0000-0002-3429-302X, Le Marchand, Loic, Lubinski, Jan
ORCID: 0000-0003-2931-3003, Mannermaa, Arto, Martens, John W. M., Meindl, Alfons, Milne, Roger L., Mulligan, Anna Marie
ORCID: 0000-0002-7239-5297, Neuhausen, Susan L., Nevanlinna, Heli, Peto, Julian, Pylkas, Katri
ORCID: 0000-0002-2449-0521, Radice, Paolo
ORCID: 0000-0001-6298-4111, Rhenius, Valerie, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Seynaeve, Caroline, Shah, Mitul, Simard, Jacques, Southey, Melissa C., Swerdlow, Anthony J., Truong, Therese, Wendt, Camilla, Winqvist, Robert, Zheng, Wei, Benitez, Javier, Dunning, Alison M., Pharoah, Paul D. P., Easton, Douglas F., Czene, Kamila, Hall, Per and Lindblom, Annika
(2017).
PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.
Oncotarget, 8 (61).
S. 102769 - 102783.
ORCHARD PARK:
IMPACT JOURNALS LLC.
ISSN 1949-2553
Full text not available from this repository.
Abstract
Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent genome-wide linkage analysis studies suggested a 3 Mb locus on chromosome 6q and two unrelated Swedish families with a LOD > 2 together seemed to share a haplotype in 6q14.1. We hypothesized that this region harbored a rare high-risk founder allele contributing to breast cancer in these two families. Sequencing of DNA and RNA from the two families did not detect any pathogenic mutations. Finally, 29 SNPs in the region were analyzed in 44,214 cases and 43,532 controls from BCAC, and the original haplotypes in the two families were suggested as low-risk alleles for European and Swedish women specifically. There was also some support for one additional independent moderate-risk allele in Swedish familial samples. The results were consistent with our previous findings in familial breast cancer and supported a breast cancer susceptibility locus at 6q14.1 around the PHIP gene.
Item Type: |
Journal Article
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Creators: |
Creators | Email | ORCID | ORCID Put Code |
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Jiao, Xiang | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Aravidis, Christos | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Marikkannu, Rajeshwari | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rantala, Johanna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Picelli, Simone | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Adamovic, Tatjana | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Liu, Tao | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Maguire, Paula | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kremeyer, Barbara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Luo, Liping | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Von Holst, Susanna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kontham, Vinaykumar | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Thutkawkorapin, Jessada | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Margolin, Sara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Du, Quan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lundin, Johanna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Michailidou, Kyriaki | UNSPECIFIED | orcid.org/0000-0001-7065-1237 | UNSPECIFIED | Bolla, Manjeet K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wang, Qin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dennis, Joe | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lush, Michael | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ambrosone, Christine B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Andrulis, Irene L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Anton-Culver, Hoda | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Antonenkova, Natalia N. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Arndt, Volker | UNSPECIFIED | orcid.org/0000-0001-9320-8684 | UNSPECIFIED | Beckmann, Matthias W. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Blomqvist, Carl | UNSPECIFIED | orcid.org/0000-0003-3041-1938 | UNSPECIFIED | Blot, William | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Boeckx, Bram | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bojesen, Stig E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bonanni, Bernardo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brand, Judith S. | UNSPECIFIED | orcid.org/0000-0002-3720-1274 | UNSPECIFIED | Brauch, Hiltrud | UNSPECIFIED | orcid.org/0000-0001-7531-2736 | UNSPECIFIED | Brenner, Hermann | UNSPECIFIED | orcid.org/0000-0002-6129-1572 | UNSPECIFIED | Broeks, Annegien | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bruning, Thomas | UNSPECIFIED | orcid.org/0000-0001-9560-5464 | UNSPECIFIED | Burwinkel, Barbara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cai, Qiuyin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chang-Claude, Jenny | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Couch, Fergus J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cox, Angela | UNSPECIFIED | orcid.org/0000-0002-5138-1099 | UNSPECIFIED | Cross, Simon S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Deming-Halverson, Sandra L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Devilee, Peter | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | dos-Santos-Silva, Isabel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dork, Thilo | UNSPECIFIED | orcid.org/0000-0002-9458-0282 | UNSPECIFIED | Eriksson, Mikael | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Fasching, Peter A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Figueroa, Jonine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Flesch-Janys, Dieter | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Flyger, Henrik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gabrielson, Marike | UNSPECIFIED | orcid.org/0000-0002-3171-1556 | UNSPECIFIED | Garcia-Closas, Montserrat | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Giles, Graham G. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gonzalez-Neira, Anna | UNSPECIFIED | orcid.org/0000-0002-5421-2020 | UNSPECIFIED | Guenel, Pascal | UNSPECIFIED | orcid.org/0000-0002-8359-518X | UNSPECIFIED | Guo, Qi | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gundert, Melanie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Haiman, Christopher A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hallberg, Emily | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hamann, Ute | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Harrington, Patricia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hooning, Maartje J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hopper, John L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Huang, Guanmengqian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jakubowska, Anna | UNSPECIFIED | orcid.org/0000-0002-5650-0501 | UNSPECIFIED | Jones, Michael E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kerin, Michael J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kosma, Veli-Matti | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kristensen, Vessela N. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lambrechts, Diether | UNSPECIFIED | orcid.org/0000-0002-3429-302X | UNSPECIFIED | Le Marchand, Loic | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lubinski, Jan | UNSPECIFIED | orcid.org/0000-0003-2931-3003 | UNSPECIFIED | Mannermaa, Arto | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Martens, John W. M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Meindl, Alfons | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Milne, Roger L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mulligan, Anna Marie | UNSPECIFIED | orcid.org/0000-0002-7239-5297 | UNSPECIFIED | Neuhausen, Susan L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nevanlinna, Heli | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Peto, Julian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pylkas, Katri | UNSPECIFIED | orcid.org/0000-0002-2449-0521 | UNSPECIFIED | Radice, Paolo | UNSPECIFIED | orcid.org/0000-0001-6298-4111 | UNSPECIFIED | Rhenius, Valerie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sawyer, Elinor J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schmidt, Marjanka K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schmutzler, Rita K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Seynaeve, Caroline | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Shah, Mitul | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Simard, Jacques | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Southey, Melissa C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Swerdlow, Anthony J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Truong, Therese | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wendt, Camilla | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Winqvist, Robert | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zheng, Wei | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Benitez, Javier | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dunning, Alison M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pharoah, Paul D. P. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Easton, Douglas F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Czene, Kamila | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hall, Per | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lindblom, Annika | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED |
|
URN: |
urn:nbn:de:hbz:38-210862 |
DOI: |
10.18632/oncotarget.21800 |
Journal or Publication Title: |
Oncotarget |
Volume: |
8 |
Number: |
61 |
Page Range: |
S. 102769 - 102783 |
Date: |
2017 |
Publisher: |
IMPACT JOURNALS LLC |
Place of Publication: |
ORCHARD PARK |
ISSN: |
1949-2553 |
Language: |
English |
Faculty: |
Unspecified |
Divisions: |
Unspecified |
Subjects: |
no entry |
Uncontrolled Keywords: |
Keywords | Language |
---|
DNA-SEQUENCING DATA; WIDE LINKAGE SCAN; GENOME; MUTATIONS; FAMILIES; GENE; ASSOCIATION; EXPRESSION; LOCALIZATION; DISCOVERY | Multiple languages | Oncology; Cell Biology | Multiple languages |
|
Refereed: |
Yes |
URI: |
http://kups.ub.uni-koeln.de/id/eprint/21086 |
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