PALB2 c.559C>T ;(p.P187S)

Variant ID: 16-23647308-G-A

NM_024675.3(PALB2):c.559C>T;(p.P187S)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: PALB2: 559C>T; P187S
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.

Cancers
Nurmi, Anna K AK; Suvanto, Maija M; Dennis, Joe J; Aittomäki, Kristiina K; Blomqvist, Carl C; Nevanlinna, Heli H
Publication Date: 2022-12-14

Variant appearance in text: PALB2: P187S
PubMed Link: 36551643
Variant Present in the following documents:
  • cancers-14-06158.pdf
View BVdb publication page



Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer.

Npj Breast Cancer
Muranen, Taru A TA; Khan, Sofia S; Fagerholm, Rainer R; Aittomäki, Kristiina K; Cunningham, Julie M JM; Dennis, Joe J; Leslie, Goska G; McGuffog, Lesley L; Parsons, Michael T MT; Simard, Jacques J; Slager, Susan S; Soucy, Penny P; Easton, Douglas F DF; Tischkowitz, Marc M; Spurdle, Amanda B AB; , ; Schmutzler, Rita K RK; Wappenschmidt, Barbara B; Hahnen, Eric E; Hooning, Maartje J MJ; , ; Singer, Christian F CF; Wagner, Gabriel G; Thomassen, Mads M; Pedersen, Inge Sokilde IS; Domchek, Susan M SM; Nathanson, Katherine L KL; Lazaro, Conxi C; Rossing, Caroline Maria CM; Andrulis, Irene L IL; Teixeira, Manuel R MR; James, Paul P; Garber, Judy J; Weitzel, Jeffrey N JN; , ; Jakubowska, Anna A; Yannoukakos, Drakoulis D; John, Esther M EM; Southey, Melissa C MC; Schmidt, Marjanka K MK; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Blomqvist, Carl C; Nevanlinna, Heli H
Publication Date: 2020

Variant appearance in text: PALB2: P187S
PubMed Link: 32964118
Variant Present in the following documents:
  • 41523_2020_Article_185.pdf
View BVdb publication page



Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.

International Journal Of Cancer
Nurmi, Anna A; Muranen, Taru A TA; Pelttari, Liisa M LM; Kiiski, Johanna I JI; Heikkinen, Tuomas T; Lehto, Sini S; Kallioniemi, Anne A; Schleutker, Johanna J; Bützow, Ralf R; Blomqvist, Carl C; Aittomäki, Kristiina K; Nevanlinna, Heli H
Publication Date: 2019-11-15

Variant appearance in text: PALB2: P187S
PubMed Link: 30927251
Variant Present in the following documents:
  • IJC-145-2692.pdf
View BVdb publication page



Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women.

Nature Communications
Kadalayil, Latha L; Khan, Sofia S; Nevanlinna, Heli H; Fasching, Peter A PA; Couch, Fergus J FJ; Hopper, John L JL; Liu, Jianjun J; Maishman, Tom T; Durcan, Lorraine L; Gerty, Sue S; Blomqvist, Carl C; Rack, Brigitte B; Janni, Wolfgang W; Collins, Andrew A; Eccles, Diana D; Tapper, William W
Publication Date: 2017-11-21

Variant appearance in text: PALB2: P187S
PubMed Link: 29158497
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_1775.pdf
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CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.

Bmc Cancer
Hallamies, Sanna S; Pelttari, Liisa M LM; Poikonen-Saksela, Paula P; Jekunen, Antti A; Jukkola-Vuorinen, Arja A; Auvinen, Päivi P; Blomqvist, Carl C; Aittomäki, Kristiina K; Mattson, Johanna J; Nevanlinna, Heli H
Publication Date: 2017-09-05

Variant appearance in text: PALB2: P187S
PubMed Link: 28874143
Variant Present in the following documents:
  • 12885_2017_Article_3631.pdf
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FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population.

Breast Cancer Research And Treatment
Kiiski, Johanna I JI; Tervasmäki, Anna A; Pelttari, Liisa M LM; Khan, Sofia S; Mantere, Tuomo T; Pylkäs, Katri K; Mannermaa, Arto A; Tengström, Maria M; Kvist, Anders A; Borg, Åke Å; Kosma, Veli-Matti VM; Kallioniemi, Anne A; Schleutker, Johanna J; Bützow, Ralf R; Blomqvist, Carl C; Aittomäki, Kristiina K; Winqvist, Robert R; Nevanlinna, Heli H
Publication Date: 2017-11

Variant appearance in text: PALB2: P187S
PubMed Link: 28702895
Variant Present in the following documents:
  • 10549_2017_Article_4388.pdf
View BVdb publication page



rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk.

Scientific Reports
Liu, Jingjing J; Lončar, Ivona I; Collée, J Margriet JM; Bolla, Manjeet K MK; Dennis, Joe J; Michailidou, Kyriaki K; Wang, Qin Q; Andrulis, Irene L IL; Barile, Monica M; Beckmann, Matthias W MW; Behrens, Sabine S; Benitez, Javier J; Blomqvist, Carl C; Boeckx, Bram B; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Brauch, Hiltrud H; Brennan, Paul P; Brenner, Hermann H; Broeks, Annegien A; Burwinkel, Barbara B; Chang-Claude, Jenny J; Chen, Shou-Tung ST; Chenevix-Trench, Georgia G; Cheng, Ching Y CY; Choi, Ji-Yeob JY; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; Cuk, Katarina K; Czene, Kamila K; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Goldberg, Mark S MS; González-Neira, Anna A; Guénel, Pascal P; Haiman, Christopher A CA; Hamann, Ute U; Hart, Steven N SN; Hartman, Mikael M; Hatse, Sigrid S; Hopper, John L JL; Ito, Hidemi H; Jakubowska, Anna A; Kabisch, Maria M; Kang, Daehee D; Kosma, Veli-Matti VM; Kristensen, Vessela N VN; Le Marchand, Loic L; Lee, Eunjung E; Li, Jingmei J; Lophatananon, Artitaya A; Jan Lubinski, ; Mannermaa, Arto A; Matsuo, Keitaro K; Milne, Roger L RL; , ; Neuhausen, Susan L SL; Nevanlinna, Heli H; Orr, Nick N; Perez, Jose I A JI; Peto, Julian J; Putti, Thomas C TC; Pylkäs, Katri K; Radice, Paolo P; Sangrajrang, Suleeporn S; Sawyer, Elinor J EJ; Schmidt, Marjanka K MK; Schneeweiss, Andreas A; Shen, Chen-Yang CY; Shrubsole, Martha J MJ; Shu, Xiao-Ou XO; Simard, Jacques J; Southey, Melissa C MC; Swerdlow, Anthony A; Teo, Soo H SH; Tessier, Daniel C DC; Thanasitthichai, Somchai S; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; Tseng, Chiu-Chen CC; Vachon, Celine C; Winqvist, Robert R; Wu, Anna H AH; Yannoukakos, Drakoulis D; Zheng, Wei W; Hall, Per P; Dunning, Alison M AM; Easton, Douglas F DF; Hooning, Maartje J MJ; van den Ouweland, Ans M W AM; Martens, John W M JW; Hollestelle, Antoinette A
Publication Date: 2016-11-15

Variant appearance in text: PALB2: P187S
PubMed Link: 27845421
Variant Present in the following documents:
  • srep36874-s1.pdf
View BVdb publication page



Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer families.

Breast Cancer Research And Treatment
Muranen, Taru A TA; Mavaddat, Nasim N; Khan, Sofia S; Fagerholm, Rainer R; Pelttari, Liisa L; Lee, Andrew A; Aittomäki, Kristiina K; Blomqvist, Carl C; Easton, Douglas F DF; Nevanlinna, Heli H
Publication Date: 2016-08

Variant appearance in text: PALB2: P187S
PubMed Link: 27438779
Variant Present in the following documents:
  • 10549_2016_Article_3897.pdf
View BVdb publication page



MicroRNA related polymorphisms and breast cancer risk.

Plos One
Khan, Sofia S; Greco, Dario D; Michailidou, Kyriaki K; Milne, Roger L RL; Muranen, Taru A TA; Heikkinen, Tuomas T; Aaltonen, Kirsimari K; Dennis, Joe J; Bolla, Manjeet K MK; Liu, Jianjun J; Hall, Per P; Irwanto, Astrid A; Humphreys, Keith K; Li, Jingmei J; Czene, Kamila K; Chang-Claude, Jenny J; Hein, Rebecca R; Rudolph, Anja A; Seibold, Petra P; Flesch-Janys, Dieter D; Fletcher, Olivia O; Peto, Julian J; dos Santos Silva, Isabel I; Johnson, Nichola N; Gibson, Lorna L; Aitken, Zoe Z; Hopper, John L JL; Tsimiklis, Helen H; Bui, Minh M; Makalic, Enes E; Schmidt, Daniel F DF; Southey, Melissa C MC; Apicella, Carmel C; Stone, Jennifer J; Waisfisz, Quinten Q; Meijers-Heijboer, Hanne H; Adank, Muriel A MA; van der Luijt, Rob B RB; Meindl, Alfons A; Schmutzler, Rita K RK; Müller-Myhsok, Bertram B; Lichtner, Peter P; Turnbull, Clare C; Rahman, Nazneen N; Chanock, Stephen J SJ; Hunter, David J DJ; Cox, Angela A; Cross, Simon S SS; Reed, Malcolm W R MW; Schmidt, Marjanka K MK; Broeks, Annegien A; Van't Veer, Laura J LJ; Hogervorst, Frans B FB; Fasching, Peter A PA; Schrauder, Michael G MG; Ekici, Arif B AB; Beckmann, Matthias W MW; Bojesen, Stig E SE; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Flyger, Henrik H; Benitez, Javier J; Zamora, Pilar M PM; Perez, Jose I A JI; Haiman, Christopher A CA; Henderson, Brian E BE; Schumacher, Fredrick F; Le Marchand, Loic L; Pharoah, Paul D P PD; Dunning, Alison M AM; Shah, Mitul M; Luben, Robert R; Brown, Judith J; Couch, Fergus J FJ; Wang, Xianshu X; Vachon, Celine C; Olson, Janet E JE; Lambrechts, Diether D; Moisse, Matthieu M; Paridaens, Robert R; Christiaens, Marie-Rose MR; Guénel, Pascal P; Truong, Thérèse T; Laurent-Puig, Pierre P; Mulot, Claire C; Marme, Frederick F; Burwinkel, Barbara B; Schneeweiss, Andreas A; Sohn, Christof C; Sawyer, Elinor J EJ; Tomlinson, Ian I; Kerin, Michael J MJ; Miller, Nicola N; Andrulis, Irene L IL; Knight, Julia A JA; Tchatchou, Sandrine S; Mulligan, Anna Marie AM; Dörk, Thilo T; Bogdanova, Natalia V NV; Antonenkova, Natalia N NN; Anton-Culver, Hoda H; Darabi, Hatef H; Eriksson, Mikael M; Garcia-Closas, Montserrat M; Figueroa, Jonine J; Lissowska, Jolanta J; Brinton, Louise L; Devilee, Peter P; Tollenaar, Robert A E M RA; Seynaeve, Caroline C; van Asperen, Christi J CJ; Kristensen, Vessela N VN; , ; , ; Slager, Susan S; Toland, Amanda E AE; Ambrosone, Christine B CB; Yannoukakos, Drakoulis D; Lindblom, Annika A; Margolin, Sara S; Radice, Paolo P; Peterlongo, Paolo P; Barile, Monica M; Mariani, Paolo P; Hooning, Maartje J MJ; Martens, John W M JW; Collée, J Margriet JM; Jager, Agnes A; Jakubowska, Anna A; Lubinski, Jan J; Jaworska-Bieniek, Katarzyna K; Durda, Katarzyna K; Giles, Graham G GG; McLean, Catriona C; Brauch, Hiltrud H; Brüning, Thomas T; Ko, Yon-Dschun YD; , ; Brenner, Hermann H; Dieffenbach, Aida Karina AK; Arndt, Volker V; Stegmaier, Christa C; Swerdlow, Anthony A; Ashworth, Alan A; Orr, Nick N; Jones, Michael M; Simard, Jacques J; Goldberg, Mark S MS; Labrèche, France F; Dumont, Martine M; Winqvist, Robert R; Pylkäs, Katri K; Jukkola-Vuorinen, Arja A; Grip, Mervi M; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Mannermaa, Arto A; Hamann, Ute U; Chenevix-Trench, Georgia G; Blomqvist, Carl C; Aittomäki, Kristiina K; Easton, Douglas F DF; Nevanlinna, Heli H
Publication Date: 2014

Variant appearance in text: PALB2: P187S
PubMed Link: 25390939
Variant Present in the following documents:
View BVdb publication page



PREDICT Plus: development and validation of a prognostic model for early breast cancer that includes HER2.

British Journal Of Cancer
Wishart, G C GC; Bajdik, C D CD; Dicks, E E; Provenzano, E E; Schmidt, M K MK; Sherman, M M; Greenberg, D C DC; Green, A R AR; Gelmon, K A KA; Kosma, V-M VM; Olson, J E JE; Beckmann, M W MW; Winqvist, R R; Cross, S S SS; Severi, G G; Huntsman, D D; Pylkäs, K K; Ellis, I I; Nielsen, T O TO; Giles, G G; Blomqvist, C C; Fasching, P A PA; Couch, F J FJ; Rakha, E E; Foulkes, W D WD; Blows, F M FM; Bégin, L R LR; van't Veer, L J LJ; Southey, M M; Nevanlinna, H H; Mannermaa, A A; Cox, A A; Cheang, M M; Baglietto, L L; Caldas, C C; Garcia-Closas, M M; Pharoah, P D P PD
Publication Date: 2012-08-21

Variant appearance in text: PALB2: P187S
PubMed Link: 22850554
Variant Present in the following documents:
  • Main text
  • bjc2012338a.pdf
View BVdb publication page



Variants on the promoter region of PTEN affect breast cancer progression and patient survival.

Breast Cancer Research : Bcr
Heikkinen, Tuomas T; Greco, Dario D; Pelttari, Liisa M LM; Tommiska, Johanna J; Vahteristo, Pia P; Heikkilä, Päivi P; Blomqvist, Carl C; Aittomäki, Kristiina K; Nevanlinna, Heli H
Publication Date: 2011

Variant appearance in text: PALB2: P187S
PubMed Link: 22171747
Variant Present in the following documents:
  • bcr3076.pdf
View BVdb publication page