Ghent University Academic Bibliography

Advanced

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Melissa Southey, David E Goldgar, Robert Winqvist, Katri Pylkäs, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, et al. (2016) JOURNAL OF MEDICAL GENETICS. 53(12). p.800-811
abstract
Background: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1x10-5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9x10-8) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p=0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
BREAST-CANCER, PROSTATE-CANCER, OVARIAN-CANCER, BRCA2-INTERACTING PROTEIN, SUSCEPTIBILITY LOCI, FAMILY REGISTRY, GENE, MUTATIONS, BRCA1, METAANALYSIS
journal title
JOURNAL OF MEDICAL GENETICS
J. Med. Genet.
volume
53
issue
12
pages
800 - 811
Web of Science type
Article
Web of Science id
000391457200003
JCR category
GENETICS & HEREDITY
JCR impact factor
5.451 (2016)
JCR rank
20/166 (2016)
JCR quartile
1 (2016)
ISSN
0022-2593
DOI
10.1136/jmedgenet-2016-103839
language
English
UGent publication?
yes
classification
A1
copyright statement
Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
id
8154037
handle
http://hdl.handle.net/1854/LU-8154037
date created
2016-11-16 15:40:34
date last changed
2018-03-16 09:10:45
@article{8154037,
  abstract     = {Background: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. 
Methods: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T{\textrangle}G and c.3113G{\textrangle}A, CHEK2 c.349A{\textrangle}G, c.538C{\textrangle}T, c.715G{\textrangle}A, c.1036C{\textrangle}T, c.1312G{\textrangle}T, and c.1343T{\textrangle}G and ATM c.7271T{\textrangle}G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. 
Results: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95\% CI 1.39 to 8.52, p=7.1x10-5), PALB2 c.3113G{\textrangle}A OR 4.21 (95\% CI 1.84 to 9.60, p=6.9x10-8) and ATM c.7271T{\textrangle}G OR 11.0 (95\% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A{\textrangle}G OR 2.26 (95\% CI 1.29 to 3.95), c.1036C{\textrangle}T OR 5.06 (95\% CI 1.09 to 23.5) and c.538C{\textrangle}T OR 1.33 (95\% CI 1.05 to 1.67) (p=0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T{\textrangle}G OR 3.03 (95\% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G{\textrangle}T OR 2.21 (95\% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. 
Conclusions: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.},
  author       = {Southey, Melissa and Goldgar, David E and Winqvist, Robert and Pylk{\"a}s, Katri and Couch, Fergus and Tischkowitz, Marc and Foulkes, William D and Dennis, Joe and Michailidou, Kyriaki and van Rensburg, Elizabeth J and Heikkinen, Tuomas and Nevanlinna, Heli and Hopper, John L and D{\"o}rk, Thilo and Claes, Kathleen and Reis-Filho, Jorge and Teo, Zhi Ling and Radice, Paolo and Catucci, Irene and Peterlongo, Paolo and Tsimiklis, Helen and Odefrey, Fabrice A and Dowty, James G and Schmidt, Marjanka K and Broeks, Annegien and Hogervorst, Frans B and Verhoef, Senno and Carpenter, Jane and Clarke, Christine and Scott, Rodney J and Fasching, Peter A and Haeberle, Lothar and Ekici, Arif B and Beckmann, Matthias W and Peto, Julian and dos-Santos-Silva, Isabel and Fletcher, Olivia and Johnson, Nichola and Bolla, Manjeet K and Sawyer, Elinor J and Tomlinson, Ian and Kerin, Michael J and Miller, Nicola and Marme, Federik and Burwinkel, Barbara and Yang, Rongxi and Gu{\'e}nel, Pascal and Truong, Th{\'e}r{\`e}se and Menegaux, Florence and Sanchez, Marie and Bojesen, Stig and Nielsen, Sune F and Flyger, Henrik and Benitez, Javier and Zamora, M Pilar and Perez, Jose Ignacio Arias and Men{\'e}ndez, Primitiva and Anton-Culver, Hoda and Neuhausen, Susan and Ziogas, Argyrios and Clarke, Christina A and Brenner, Hermann and Arndt, Volker and Stegmaier, Christa and Brauch, Hiltrud and Br{\"u}ning, Thomas and Ko, Yon-Dschun and Muranen, Taru A and Aittom{\"a}ki, Kristiina and Blomqvist, Carl and Bogdanova, Natalia V and Antonenkova, Natalia N and Lindblom, Annika and Margolin, Sara and Mannermaa, Arto and Kataja, Vesa and Kosma, Veli-Matti and Hartikainen, Jaana M and Spurdle, Amanda B and Wauters, Els and Smeets, Dominiek and Beuselinck, Benoit and Floris, Giuseppe and Chang-Claude, Jenny and Rudolph, Anja and Seibold, Petra and Flesch-Janys, Dieter and Olson, Janet E and Vachon, Celine and Pankratz, Vernon S and McLean, Catriona and Haiman, Christopher A and Henderson, Brian E and Schumacher, Fredrick and Le Marchand, Loic and Kristensen, Vessela and Aln{\ae}s, Grethe Grenaker and Zheng, Wei and Hunter, David J and Lindstrom, Sara and Hankinson, Susan E and Kraft, Peter and Andrulis, Irene and Knight, Julia A and Glendon, Gord and Mulligan, Anna Marie and Jukkola-Vuorinen, Arja and Grip, Mervi and Kauppila, Saila and Devilee, Peter and Tollenaar, Robert A E M and Seynaeve, Caroline and Hollestelle, Antoinette and Garcia-Closas, Montserrat and Figueroa, Jonine and Chanock, Stephen J and Lissowska, Jolanta and Czene, Kamila and Darabi, Hatef and Eriksson, Mikael and Eccles, Diana M and Rafiq, Sajjad and Tapper, William J and Gerty, Sue M and Hooning, Maartje J and Martens, John W M and Coll{\'e}e, J Margriet and Tilanus-Linthorst, Madeleine and Hall, Per and Li, Jingmei and Brand, Judith S and Humphreys, Keith and Cox, Angela and Reed, Malcolm W R and Luccarini, Craig and Baynes, Caroline and Dunning, Alison M and Hamann, Ute and Torres, Diana and Ulmer, Hans Ulrich and R{\"u}diger, Thomas and Jakubowska, Anna and Lubinski, Jan and Jaworska, Katarzyna and Durda, Katarzyna and Slager, Susan and Toland, Amanda E and Ambrosone, Christine B and Yannoukakos, Drakoulis and Swerdlow, Anthony and Ashworth, Alan and Orr, Nick and Jones, Michael and Gonz{\'a}lez-Neira, Anna and Pita, Guillermo and Alonso, M Rosario and {\'A}lvarez, Nuria and Herrero, Daniel and Tessier, Daniel C and Vincent, Daniel and Bacot, Francois and Simard, Jacques and Dumont, Martine and Soucy, Penny and Eeles, Rosalind and Muir, Kenneth and Wiklund, Fredrik and Gronberg, Henrik and Schleutker, Johanna and Nordestgaard, B{\o}rge G and Weischer, Maren and Travis, Ruth C and Neal, David and Donovan, Jenny L and Hamdy, Freddie C and Khaw, Kay-Tee and Stanford, Janet L and Blot, William J and Thibodeau, Stephen and Schaid, Daniel J and Kelley, Joseph L and Maier, Christiane and Kibel, Adam S and Cybulski, Cezary and Cannon-Albright, Lisa and Butterbach, Katja and Park, Jong and Kaneva, Radka and Batra, Jyotsna and Teixeira, Manuel R and Kote-Jarai, Zsofia and Olama, Ali Amin Al and Benlloch, Sara and Renner, Stefan P and Hartmann, Arndt and Hein, Alexander and Ruebner, Matthias and Lambrechts, Diether and Van Nieuwenhuysen, Els and Vergote, Ignace and Lambretchs, Sandrina and Doherty, Jennifer A and Rossing, Mary Anne and Nickels, Stefan and Eilber, Ursula and Wang-Gohrke, Shan and Odunsi, Kunle and Sucheston-Campbell, Lara E and Friel, Grace and Lurie, Galina and Killeen, Jeffrey L and Wilkens, Lynne R and Goodman, Marc T and Runnebaum, Ingo and Hillemanns, Peter A and Pelttari, Liisa M and Butzow, Ralf and Modugno, Francesmary and Edwards, Robert P and Ness, Roberta B and Moysich, Kirsten B and du Bois, Andreas and Heitz, Florian and Harter, Philipp and Kommoss, Stefan and Karlan, Beth Y and Walsh, Christine and Lester, Jenny and Jensen, Allan and Kjaer, Susanne Kr{\"u}ger and H{\o}gdall, Estrid and Peissel, Bernard and Bonanni, Bernardo and Bernard, Loris and Goode, Ellen L and Fridley, Brooke L and Vierkant, Robert A and Cunningham, Julie M and Larson, Melissa C and Fogarty, Zachary C and Kalli, Kimberly R and Liang, Dong and Lu, Karen H and Hildebrandt, Michelle A T and Wu, Xifeng and Levine, Douglas A and Dao, Fanny and Bisogna, Maria and Berchuck, Andrew and Iversen, Edwin S and Marks, Jeffrey R and Akushevich, Lucy and Cramer, Daniel W and Schildkraut, Joellen and Terry, Kathryn L and Poole, Elizabeth M and Stampfer, Meir and Tworoger, Shelley S and Bandera, Elisa V and Orlow, Irene and Olson, Sara H and Bjorge, Line and Salvesen, Helga B and van Altena, Anne M and Aben, Katja K H and Kiemeney, Lambertus A and Massuger, Leon F A G and Pejovic, Tanja and Bean, Yukie and Brooks-Wilson, Angela and Kelemen, Linda E and Cook, Linda S and Le, Nhu D and G{\'o}rski, Bohdan and Gronwald, Jacek and Menkiszak, Janusz and H{\o}gdall, Claus K and Lundvall, Lene and Nedergaard, Lotte and Engelholm, Svend Aage and Dicks, Ed and Tyrer, Jonathan and Campbell, Ian and McNeish, Iain and Paul, James and Siddiqui, Nadeem and Glasspool, Rosalind and Whittemore, Alice S and Rothstein, Joseph H and McGuire, Valerie and Sieh, Weiva and Cai, Hui and Shu, Xiao-Ou and Teten, Rachel T and Sutphen, Rebecca and McLaughlin, John R and Narod, Steven A and Phelan, Catherine M and Monteiro, Alvaro N and Fenstermacher, David and Lin, Hui-Yi and Permuth, Jennifer B and Sellers, Thomas A and Chen, Y Ann and Tsai, Ya-Yu and Chen, Zhihua and Gentry-Maharaj, Aleksandra and Gayther, Simon A and Ramus, Susan J and Menon, Usha and Wu, Anna H and Pearce, Celeste L and Van Den Berg, David and Pike, Malcolm C and Dansonka-Mieszkowska, Agnieszka and Plisiecka-Halasa, Joanna and Moes-Sosnowska, Joanna and Kupryjanczyk, Jolanta and Pharoah, Paul DP and Song, Honglin and Winship, Ingrid and Chenevix-Trench, Georgia and Giles, Graham G and Tavtigian, Sean V and Easton, Doug F and Milne, Roger L},
  issn         = {0022-2593},
  journal      = {JOURNAL OF MEDICAL GENETICS},
  keyword      = {BREAST-CANCER,PROSTATE-CANCER,OVARIAN-CANCER,BRCA2-INTERACTING PROTEIN,SUSCEPTIBILITY LOCI,FAMILY REGISTRY,GENE,MUTATIONS,BRCA1,METAANALYSIS},
  language     = {eng},
  number       = {12},
  pages        = {800--811},
  title        = {PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS},
  url          = {http://dx.doi.org/10.1136/jmedgenet-2016-103839},
  volume       = {53},
  year         = {2016},
}

Chicago
Southey, Melissa, David E Goldgar, Robert Winqvist, Katri Pylkäs, Fergus Couch, Marc Tischkowitz, William D Foulkes, et al. 2016. “PALB2, CHEK2 and ATM Rare Variants and Cancer Risk: Data from COGS.” Journal of Medical Genetics 53 (12): 800–811.
APA
Southey, M., Goldgar, D. E., Winqvist, R., Pylkäs, K., Couch, F., Tischkowitz, M., Foulkes, W. D., et al. (2016). PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. JOURNAL OF MEDICAL GENETICS, 53(12), 800–811.
Vancouver
1.
Southey M, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, et al. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. JOURNAL OF MEDICAL GENETICS. 2016;53(12):800–11.
MLA
Southey, Melissa, David E Goldgar, Robert Winqvist, et al. “PALB2, CHEK2 and ATM Rare Variants and Cancer Risk: Data from COGS.” JOURNAL OF MEDICAL GENETICS 53.12 (2016): 800–811. Print.