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

Melissa C. Southey; David E. Goldgar; Robert Winqvist; Katri Pylkas; Fergus Couch; Marc Tischkowitz; William D. Foulkes; Joe Dennis; Kyriaki Michailidou; Elizabeth J. van Rensburg; Tuomas Heikkinen; Heli Nevanlinna; John L. Hopper; Thilo Doerk; Kathleen B. M. Claes; Jorge Reis-Filho; Zhi Ling Teo; Paolo Radice; Irene Catucci; Paolo Peterlongo; Helen Tsimiklis; Fabrice A. Odefrey; James G. Dowty; Marjanka K. Schmidt; Annegien Broeks; Frans B. Hogervorst; Senno Verhoef; Jane Carpenter; Christine Clarke; Rodney J. Scott; Peter A. Fasching; Lothar Haeberle; Arif B. Ekici; Matthias W. Beckmann; Julian Peto; Isabel dos-Santos-Silva; Olivia Fletcher; Nichola Johnson; Manjeet K. Bolla; Elinor J. Sawyer; Ian Tomlinson; Michael J. Kerin; Nicola Miller; Federik Marme; Barbara Burwinkel; Taru A. Muranen; Kristiina Aittomäki; Carl Blomqvist; Liisa M. Pelttari; Ralf Butzow; kConFab Investigators; Australian Ovarian Canc Study Grp

doi:10.1136/jmedgenet-2016-103839

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

Melissa C. Southey, David E. Goldgar, Robert Winqvist, Katri Pylkas, Fergus Couch, Marc Tischkowitz, William D. Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J. van Rensburg, Tuomas Heikkinen, Heli Nevanlinna, John L. Hopper, Thilo Doerk, Kathleen B. M. Claes, Jorge Reis-Filho, Zhi Ling Teo, Paolo Radice, Irene Catucci, Paolo PeterlongoHelen Tsimiklis, Fabrice A. Odefrey, James G. Dowty, Marjanka K. Schmidt, Annegien Broeks, Frans B. Hogervorst, Senno Verhoef, Jane Carpenter, Christine Clarke, Rodney J. Scott, Peter A. Fasching, Lothar Haeberle, Arif B. Ekici, Matthias W. Beckmann, Julian Peto, Isabel dos-Santos-Silva, Olivia Fletcher, Nichola Johnson, Manjeet K. Bolla, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Federik Marme, Barbara Burwinkel, Taru A. Muranen, Kristiina Aittomäki, Carl Blomqvist, Liisa M. Pelttari, Ralf Butzow, kConFab Investigators, Australian Ovarian Canc Study Grp

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	Journal of Medical Genetics
Volume	53
Issue number	12
Pages (from-to)	800-811
Number of pages	12
ISSN	0022-2593
DOIs	https://doi.org/10.1136/jmedgenet-2016-103839
Publication status	Published - Dec 2016
MoE publication type	A1 Journal article-refereed

Fields of Science

BREAST-CANCER
PROSTATE-CANCER
OVARIAN-CANCER
BRCA2-INTERACTING PROTEIN
SUSCEPTIBILITY LOCI
FAMILY REGISTRY
GENE
MUTATIONS
BRCA1
METAANALYSIS
3122 Cancers
1184 Genetics, developmental biology, physiology

Access to Document

10.1136/jmedgenet-2016-103839

PALB2Final published version, 428 KBLicence: CC BY

Cite this

Southey, M. C., Goldgar, D. E., Winqvist, R., Pylkas, K., Couch, F., Tischkowitz, M., Foulkes, W. D., Dennis, J., Michailidou, K., van Rensburg, E. J., Heikkinen, T., Nevanlinna, H., Hopper, J. L., Doerk, T., Claes, K. B. M., Reis-Filho, J., Teo, Z. L., Radice, P., Catucci, I., ... Australian Ovarian Canc Study Grp (2016). PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. Journal of Medical Genetics, 53(12), 800-811. https://doi.org/10.1136/jmedgenet-2016-103839

@article{9f0efc11571b4979a1e1f9022a16a163,

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

keywords = "BREAST-CANCER, PROSTATE-CANCER, OVARIAN-CANCER, BRCA2-INTERACTING PROTEIN, SUSCEPTIBILITY LOCI, FAMILY REGISTRY, GENE, MUTATIONS, BRCA1, METAANALYSIS, 3122 Cancers, 1184 Genetics, developmental biology, physiology",

author = "Southey, {Melissa C.} and Goldgar, {David E.} and Robert Winqvist and Katri Pylkas and Fergus Couch and Marc Tischkowitz and Foulkes, {William D.} and Joe Dennis and Kyriaki Michailidou and {van Rensburg}, {Elizabeth J.} and Tuomas Heikkinen and Heli Nevanlinna and Hopper, {John L.} and Thilo Doerk and Claes, {Kathleen B. M.} and Jorge Reis-Filho and Teo, {Zhi Ling} and Paolo Radice and Irene Catucci and Paolo Peterlongo and Helen Tsimiklis and Odefrey, {Fabrice A.} and Dowty, {James G.} and Schmidt, {Marjanka K.} and Annegien Broeks and Hogervorst, {Frans B.} and Senno Verhoef and Jane Carpenter and Christine Clarke and Scott, {Rodney J.} and Fasching, {Peter A.} and Lothar Haeberle and Ekici, {Arif B.} and Beckmann, {Matthias W.} and Julian Peto and Isabel dos-Santos-Silva and Olivia Fletcher and Nichola Johnson and Bolla, {Manjeet K.} and Sawyer, {Elinor J.} and Ian Tomlinson and Kerin, {Michael J.} and Nicola Miller and Federik Marme and Barbara Burwinkel and Muranen, {Taru A.} and Kristiina Aittom{\"a}ki and Carl Blomqvist and Pelttari, {Liisa M.} and Ralf Butzow and {kConFab Investigators} and {Australian Ovarian Canc Study Grp}",

year = "2016",

month = dec,

doi = "10.1136/jmedgenet-2016-103839",

language = "English",

volume = "53",

pages = "800--811",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group Ltd",

number = "12",

}

Southey, MC, Goldgar, DE, Winqvist, R, Pylkas, K, Couch, F, Tischkowitz, M, Foulkes, WD, Dennis, J, Michailidou, K, van Rensburg, EJ, Heikkinen, T, Nevanlinna, H, Hopper, JL, Doerk, T, Claes, KBM, Reis-Filho, J, Teo, ZL, Radice, P, Catucci, I, Peterlongo, P, Tsimiklis, H, Odefrey, FA, Dowty, JG, Schmidt, MK, Broeks, A, Hogervorst, FB, Verhoef, S, Carpenter, J, Clarke, C, Scott, RJ, Fasching, PA, Haeberle, L, Ekici, AB, Beckmann, MW, Peto, J, dos-Santos-Silva, I, Fletcher, O, Johnson, N, Bolla, MK, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Marme, F, Burwinkel, B, Muranen, TA , Aittomäki, K , Blomqvist, C , Pelttari, LM , Butzow, R, kConFab Investigators & Australian Ovarian Canc Study Grp 2016, 'PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS', Journal of Medical Genetics, vol. 53, no. 12, pp. 800-811. https://doi.org/10.1136/jmedgenet-2016-103839

TY - JOUR

T1 - PALB2, CHEK2 and ATM rare variants and cancer risk

T2 - data from COGS

AU - Southey, Melissa C.

AU - Goldgar, David E.

AU - Winqvist, Robert

AU - Pylkas, Katri

AU - Couch, Fergus

AU - Tischkowitz, Marc

AU - Foulkes, William D.

AU - Dennis, Joe

AU - Michailidou, Kyriaki

AU - van Rensburg, Elizabeth J.

AU - Heikkinen, Tuomas

AU - Nevanlinna, Heli

AU - Hopper, John L.

AU - Doerk, Thilo

AU - Claes, Kathleen B. M.

AU - Reis-Filho, Jorge

AU - Teo, Zhi Ling

AU - Radice, Paolo

AU - Catucci, Irene

AU - Peterlongo, Paolo

AU - Tsimiklis, Helen

AU - Odefrey, Fabrice A.

AU - Dowty, James G.

AU - Schmidt, Marjanka K.

AU - Broeks, Annegien

AU - Hogervorst, Frans B.

AU - Verhoef, Senno

AU - Carpenter, Jane

AU - Clarke, Christine

AU - Scott, Rodney J.

AU - Fasching, Peter A.

AU - Haeberle, Lothar

AU - Ekici, Arif B.

AU - Beckmann, Matthias W.

AU - Peto, Julian

AU - dos-Santos-Silva, Isabel

AU - Fletcher, Olivia

AU - Johnson, Nichola

AU - Bolla, Manjeet K.

AU - Sawyer, Elinor J.

AU - Tomlinson, Ian

AU - Kerin, Michael J.

AU - Miller, Nicola

AU - Marme, Federik

AU - Burwinkel, Barbara

AU - Muranen, Taru A.

AU - Aittomäki, Kristiina

AU - Blomqvist, Carl

AU - Pelttari, Liisa M.

AU - Butzow, Ralf

AU - kConFab Investigators

AU - Australian Ovarian Canc Study Grp

PY - 2016/12

Y1 - 2016/12

KW - BREAST-CANCER

KW - PROSTATE-CANCER

KW - OVARIAN-CANCER

KW - BRCA2-INTERACTING PROTEIN

KW - SUSCEPTIBILITY LOCI

KW - FAMILY REGISTRY

KW - GENE

KW - MUTATIONS

KW - BRCA1

KW - METAANALYSIS

KW - 3122 Cancers

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1136/jmedgenet-2016-103839

DO - 10.1136/jmedgenet-2016-103839

M3 - Article

SN - 0022-2593

VL - 53

SP - 800

EP - 811

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 12

ER -