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: 2323C>T; Q775*; rs180177111
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: PALB2: 2323C>T; Gln775Ter
The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.
Cancers
Alenezi, Wejdan M WM; Milano, Larissa L; Fierheller, Caitlin T CT; Serruya, Corinne C; Revil, Timothée T; Oros, Kathleen K KK; Behl, Supriya S; Arcand, Suzanna L SL; Nayar, Porangana P; Spiegelman, Dan D; Gravel, Simon S; Mes-Masson, Anne-Marie AM; Provencher, Diane D; Foulkes, William D WD; El Haffaf, Zaki Z; Rouleau, Guy G; Bouchard, Luigi L; Greenwood, Celia M T CMT; Masson, Jean-Yves JY; Ragoussis, Jiannis J; Tonin, Patricia N PN
Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients.
Cancers
Kwong, Ava A; Shin, Vivian Y VY; Ho, Cecilia Y S CYS; Khalid, Aleena A; Au, Chun Hang CH; Chan, Karen K L KKL; Ngan, Hextan Y S HYS; Chan, Tsun-Leung TL; Ma, Edmond S K ESK
The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.
Cancers
Fierheller, Caitlin T CT; Alenezi, Wejdan M WM; Tonin, Patricia N PN
Publication Date: 2021-07-07
Variant appearance in text: PALB2: 2323C>T; Gln775Ter
Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.
Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.
Geburtshilfe Und Frauenheilkunde
Wappenschmidt, Barbara B; Hauke, Jan J; Faust, Ulrike U; Niederacher, Dieter D; Wiesmüller, Lisa L; Schmidt, Gunnar G; Groß, Evi E; Gehrig, Andrea A; Sutter, Christian C; Ramser, Juliane J; Rump, Andreas A; Arnold, Norbert N; Meindl, Alfons A
Homologous recombination DNA repair defects in PALB2-associated breast cancers.
Npj Breast Cancer
Li, Anqi A; Geyer, Felipe C FC; Blecua, Pedro P; Lee, Ju Youn JY; Selenica, Pier P; Brown, David N DN; Pareja, Fresia F; Lee, Simon S K SSK; Kumar, Rahul R; Rivera, Barbara B; Bi, Rui R; Piscuoglio, Salvatore S; Wen, Hannah Y HY; Lozada, John R JR; Gularte-Mérida, Rodrigo R; Cavallone, Luca L; , ; Rezoug, Zoulikha Z; Nguyen-Dumont, Tu T; Peterlongo, Paolo P; Tondini, Carlo C; Terkelsen, Thorkild T; Rønlund, Karina K; Boonen, Susanne E SE; Mannerma, Arto A; Winqvist, Robert R; Janatova, Marketa M; Rajadurai, Pathmanathan P; Xia, Bing B; Norton, Larry L; Robson, Mark E ME; Ng, Pei-Sze PS; Looi, Lai-Meng LM; Southey, Melissa C MC; Weigelt, Britta B; Soo-Hwang, Teo T; Tischkowitz, Marc M; Foulkes, William D WD; Reis-Filho, Jorge S JS
Publication Date: 2019
Variant appearance in text: PALB2: 2323C>T; Gln775*
Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yurgelun, Matthew B MB; Chittenden, Anu B AB; Morales-Oyarvide, Vicente V; Rubinson, Douglas A DA; Dunne, Richard F RF; Kozak, Margaret M MM; Qian, Zhi Rong ZR; Welch, Marisa W MW; Brais, Lauren K LK; Da Silva, Annacarolina A; Bui, Justin L JL; Yuan, Chen C; Li, Tingting T; Li, Wanwan W; Masuda, Atsuhiro A; Gu, Mancang M; Bullock, Andrea J AJ; Chang, Daniel T DT; Clancy, Thomas E TE; Linehan, David C DC; Findeis-Hosey, Jennifer J JJ; Doyle, Leona A LA; Thorner, Aaron R AR; Ducar, Matthew D MD; Wollison, Bruce M BM; Khalaf, Natalia N; Perez, Kimberly K; Syngal, Sapna S; Aguirre, Andrew J AJ; Hahn, William C WC; Meyerson, Matthew L ML; Fuchs, Charles S CS; Ogino, Shuji S; Hornick, Jason L JL; Hezel, Aram F AF; Koong, Albert C AC; Nowak, Jonathan A JA; Wolpin, Brian M BM
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
Journal Of Medical Genetics
Southey, Melissa C MC; Goldgar, David E DE; Winqvist, Robert R; Pylkäs, Katri K; Couch, Fergus F; Tischkowitz, Marc M; Foulkes, William D WD; Dennis, Joe J; Michailidou, Kyriaki K; van Rensburg, Elizabeth J EJ; Heikkinen, Tuomas T; Nevanlinna, Heli H; Hopper, John L JL; Dörk, Thilo T; Claes, Kathleen Bm KB; Reis-Filho, Jorge J; Teo, Zhi Ling ZL; Radice, Paolo P; Catucci, Irene I; Peterlongo, Paolo P; Tsimiklis, Helen H; Odefrey, Fabrice A FA; Dowty, James G JG; Schmidt, Marjanka K MK; Broeks, Annegien A; Hogervorst, Frans B FB; Verhoef, Senno S; Carpenter, Jane J; Clarke, Christine C; Scott, Rodney J RJ; Fasching, Peter A PA; Haeberle, Lothar L; Ekici, Arif B AB; Beckmann, Matthias W MW; Peto, Julian J; Dos-Santos-Silva, Isabel I; Fletcher, Olivia O; Johnson, Nichola N; Bolla, Manjeet K MK; Sawyer, Elinor J EJ; Tomlinson, Ian I; Kerin, Michael J MJ; Miller, Nicola N; Marme, Federik F; Burwinkel, Barbara B; Yang, Rongxi R; Guénel, Pascal P; Truong, Thérèse T; Menegaux, Florence F; Sanchez, Marie M; Bojesen, Stig S; Nielsen, Sune F SF; Flyger, Henrik H; Benitez, Javier J; Zamora, M Pilar MP; Perez, Jose Ignacio Arias JI; Menéndez, Primitiva P; Anton-Culver, Hoda H; Neuhausen, Susan S; Ziogas, Argyrios A; Clarke, Christina A CA; Brenner, Hermann H; Arndt, Volker V; Stegmaier, Christa C; Brauch, Hiltrud H; Brüning, Thomas T; Ko, Yon-Dschun YD; Muranen, Taru A TA; Aittomäki, Kristiina K; Blomqvist, Carl C; Bogdanova, Natalia V NV; Antonenkova, Natalia N NN; Lindblom, Annika A; Margolin, Sara S; Mannermaa, Arto A; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Spurdle, Amanda B AB; Investigators, kConFab K; , ; Wauters, Els E; Smeets, Dominiek D; Beuselinck, Benoit B; Floris, Giuseppe G; Chang-Claude, Jenny J; Rudolph, Anja A; Seibold, Petra P; Flesch-Janys, Dieter D; Olson, Janet E JE; Vachon, Celine C; Pankratz, Vernon S VS; McLean, Catriona C; Haiman, Christopher A CA; Henderson, Brian E BE; Schumacher, Fredrick F; Le Marchand, Loic L; Kristensen, Vessela V; Alnæs, Grethe Grenaker GG; Zheng, Wei W; Hunter, David J DJ; Lindstrom, Sara S; Hankinson, Susan E SE; Kraft, Peter P; Andrulis, Irene I; Knight, Julia A JA; Glendon, Gord G; Mulligan, Anna Marie AM; Jukkola-Vuorinen, Arja A; Grip, Mervi M; Kauppila, Saila S; Devilee, Peter P; Tollenaar, Robert A E M RA; Seynaeve, Caroline C; Hollestelle, Antoinette A; Garcia-Closas, Montserrat M; Figueroa, Jonine J; Chanock, Stephen J SJ; Lissowska, Jolanta J; Czene, Kamila K; Darabi, Hatef H; Eriksson, Mikael M; Eccles, Diana M DM; Rafiq, Sajjad S; Tapper, William J WJ; Gerty, Sue M SM; Hooning, Maartje J MJ; Martens, John W M JW; Collée, J Margriet JM; Tilanus-Linthorst, Madeleine M; Hall, Per P; Li, Jingmei J; Brand, Judith S JS; Humphreys, Keith K; Cox, Angela A; Reed, Malcolm W R MW; Luccarini, Craig C; Baynes, Caroline C; Dunning, Alison M AM; Hamann, Ute U; Torres, Diana D; Ulmer, Hans Ulrich HU; Rüdiger, Thomas T; Jakubowska, Anna A; Lubinski, Jan J; Jaworska, Katarzyna K; Durda, Katarzyna K; Slager, Susan S; Toland, Amanda E AE; Ambrosone, Christine B CB; Yannoukakos, Drakoulis D; Swerdlow, Anthony A; Ashworth, Alan A; Orr, Nick N; Jones, Michael M; González-Neira, Anna A; Pita, Guillermo G; Alonso, M Rosario MR; Álvarez, Nuria N; Herrero, Daniel D; Tessier, Daniel C DC; Vincent, Daniel D; Bacot, Francois F; Simard, Jacques J; Dumont, Martine M; Soucy, Penny P; Eeles, Rosalind R; Muir, Kenneth K; Wiklund, Fredrik F; Gronberg, Henrik H; Schleutker, Johanna J; Nordestgaard, Børge G BG; Weischer, Maren M; Travis, Ruth C RC; Neal, David D; Donovan, Jenny L JL; Hamdy, Freddie C FC; Khaw, Kay-Tee KT; Stanford, Janet L JL; Blot, William J WJ; Thibodeau, Stephen S; Schaid, Daniel J DJ; Kelley, Joseph L JL; Maier, Christiane C; Kibel, Adam S AS; Cybulski, Cezary C; Cannon-Albright, Lisa L; Butterbach, Katja K; Park, Jong J; Kaneva, Radka R; Batra, Jyotsna J; Teixeira, Manuel R MR; Kote-Jarai, Zsofia Z; Olama, Ali Amin Al AA; Benlloch, Sara S; Renner, Stefan P SP; Hartmann, Arndt A; Hein, Alexander A; Ruebner, Matthias M; Lambrechts, Diether D; Van Nieuwenhuysen, Els E; Vergote, Ignace I; Lambretchs, Sandrina S; Doherty, Jennifer A JA; Rossing, Mary Anne MA; Nickels, Stefan S; Eilber, Ursula U; Wang-Gohrke, Shan S; Odunsi, Kunle K; Sucheston-Campbell, Lara E LE; Friel, Grace G; Lurie, Galina G; Killeen, Jeffrey L JL; Wilkens, Lynne R LR; Goodman, Marc T MT; Runnebaum, Ingo I; Hillemanns, Peter A PA; Pelttari, Liisa M LM; Butzow, Ralf R; Modugno, Francesmary F; Edwards, Robert P RP; Ness, Roberta B RB; Moysich, Kirsten B KB; du Bois, Andreas A; Heitz, Florian F; Harter, Philipp P; Kommoss, Stefan S; Karlan, Beth Y BY; Walsh, Christine C; Lester, Jenny J; Jensen, Allan A; Kjaer, Susanne Krüger SK; Høgdall, Estrid E; Peissel, Bernard B; Bonanni, Bernardo B; Bernard, Loris L; Goode, Ellen L EL; Fridley, Brooke L BL; Vierkant, Robert A RA; Cunningham, Julie M JM; Larson, Melissa C MC; Fogarty, Zachary C ZC; Kalli, Kimberly R KR; Liang, Dong D; Lu, Karen H KH; Hildebrandt, Michelle A T MA; Wu, Xifeng X; Levine, Douglas A DA; Dao, Fanny F; Bisogna, Maria M; Berchuck, Andrew A; Iversen, Edwin S ES; Marks, Jeffrey R JR; Akushevich, Lucy L; Cramer, Daniel W DW; Schildkraut, Joellen J; Terry, Kathryn L KL; Poole, Elizabeth M EM; Stampfer, Meir M; Tworoger, Shelley S SS; Bandera, Elisa V EV; Orlow, Irene I; Olson, Sara H SH; Bjorge, Line L; Salvesen, Helga B HB; van Altena, Anne M AM; Aben, Katja K H KK; Kiemeney, Lambertus A LA; Massuger, Leon F A G LF; Pejovic, Tanja T; Bean, Yukie Y; Brooks-Wilson, Angela A; Kelemen, Linda E LE; Cook, Linda S LS; Le, Nhu D ND; Górski, Bohdan B; Gronwald, Jacek J; Menkiszak, Janusz J; Høgdall, Claus K CK; Lundvall, Lene L; Nedergaard, Lotte L; Engelholm, Svend Aage SA; Dicks, Ed E; Tyrer, Jonathan J; Campbell, Ian I; McNeish, Iain I; Paul, James J; Siddiqui, Nadeem N; Glasspool, Rosalind R; Whittemore, Alice S AS; Rothstein, Joseph H JH; McGuire, Valerie V; Sieh, Weiva W; Cai, Hui H; Shu, Xiao-Ou XO; Teten, Rachel T RT; Sutphen, Rebecca R; McLaughlin, John R JR; Narod, Steven A SA; Phelan, Catherine M CM; Monteiro, Alvaro N AN; Fenstermacher, David D; Lin, Hui-Yi HY; Permuth, Jennifer B JB; Sellers, Thomas A TA; Chen, Y Ann YA; Tsai, Ya-Yu YY; Chen, Zhihua Z; Gentry-Maharaj, Aleksandra A; Gayther, Simon A SA; Ramus, Susan J SJ; Menon, Usha U; Wu, Anna H AH; Pearce, Celeste L CL; Van Den Berg, David D; Pike, Malcolm C MC; Dansonka-Mieszkowska, Agnieszka A; Plisiecka-Halasa, Joanna J; Moes-Sosnowska, Joanna J; Kupryjanczyk, Jolanta J; Pharoah, Paul Dp PD; Song, Honglin H; Winship, Ingrid I; Chenevix-Trench, Georgia G; Giles, Graham G GG; Tavtigian, Sean V SV; Easton, Doug F DF; Milne, Roger L RL
Publication Date: 2016-12
Variant appearance in text: PALB2: 2323C>T; Gln775*; rs180177111
Double PALB2 and BRCA1/BRCA2 mutation carriers are rare in breast cancer and breast-ovarian cancer syndrome families from the French Canadian founder population.
Oncology Letters
Ancot, Frédéric F; Arcand, Suzanna L SL; Mes-Masson, Anne-Marie AM; Provencher, Diane M DM; Tonin, Patricia N PN
Germline TP53 mutational spectrum in French Canadians with breast cancer.
Bmc Medical Genetics
Arcand, Suzanna L SL; Akbari, Mohammed R MR; Mes-Masson, Anne-Marie AM; Provencher, Diane D; Foulkes, William D WD; Narod, Steven A SA; Tonin, Patricia N PN
Publication Date: 2015-04-12
Variant appearance in text: PALB2: 2323C>T; Gln775Ter
Breast-cancer risk in families with mutations in PALB2.
The New England Journal Of Medicine
Antoniou, Antonis C AC; Casadei, Silvia S; Heikkinen, Tuomas T; Barrowdale, Daniel D; Pylkäs, Katri K; Roberts, Jonathan J; Lee, Andrew A; Subramanian, Deepak D; De Leeneer, Kim K; Fostira, Florentia F; Tomiak, Eva E; Neuhausen, Susan L SL; Teo, Zhi L ZL; Khan, Sofia S; Aittomäki, Kristiina K; Moilanen, Jukka S JS; Turnbull, Clare C; Seal, Sheila S; Mannermaa, Arto A; Kallioniemi, Anne A; Lindeman, Geoffrey J GJ; Buys, Saundra S SS; Andrulis, Irene L IL; Radice, Paolo P; Tondini, Carlo C; Manoukian, Siranoush S; Toland, Amanda E AE; Miron, Penelope P; Weitzel, Jeffrey N JN; Domchek, Susan M SM; Poppe, Bruce B; Claes, Kathleen B M KB; Yannoukakos, Drakoulis D; Concannon, Patrick P; Bernstein, Jonine L JL; James, Paul A PA; Easton, Douglas F DF; Goldgar, David E DE; Hopper, John L JL; Rahman, Nazneen N; Peterlongo, Paolo P; Nevanlinna, Heli H; King, Mary-Claire MC; Couch, Fergus J FJ; Southey, Melissa C MC; Winqvist, Robert R; Foulkes, William D WD; Tischkowitz, Marc M
Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent.
Bmc Medical Genetics
Tischkowitz, Marc M; Sabbaghian, Nelly N; Hamel, Nancy N; Pouchet, Carly C; Foulkes, William D WD; Mes-Masson, Anne-Marie AM; Provencher, Diane M DM; Tonin, Patricia N PN
A PALB2 mutation associated with high risk of breast cancer.
Breast Cancer Research : Bcr
Southey, Melissa C MC; Teo, Zhi L ZL; Dowty, James G JG; Odefrey, Fabrice A FA; Park, Daniel J DJ; Tischkowitz, Marc M; Sabbaghian, Nelly N; Apicella, Carmel C; Byrnes, Graham B GB; Winship, Ingrid I; Baglietto, Laura L; Giles, Graham G GG; Goldgar, David E DE; Foulkes, William D WD; Hopper, John L JL; ,
PALB2 mutations in German and Russian patients with bilateral breast cancer.
Breast Cancer Research And Treatment
Bogdanova, Natalia N; Sokolenko, Anna P AP; Iyevleva, Aglaya G AG; Abysheva, Svetlana N SN; Blaut, Magda M; Bremer, Michael M; Christiansen, Hans H; Rave-Fränk, Margret M; Dörk, Thilo T; Imyanitov, Evgeny N EN
Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women.
Bmc Cancer
Novak, David J DJ; Chen, Long Qi LQ; Ghadirian, Parviz P; Hamel, Nancy N; Zhang, Phil P; Rossiny, Vanessa V; Cardinal, Guy G; Robidoux, André A; Tonin, Patricia N PN; Rousseau, Francois F; Narod, Steven A SA; Foulkes, William D WD
Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women.
Breast Cancer Research : Bcr
Foulkes, William D WD; Ghadirian, Parviz P; Akbari, Mohammed Reza MR; Hamel, Nancy N; Giroux, Sylvie S; Sabbaghian, Nelly N; Darnel, Andrew A; Royer, Robert R; Poll, Aletta A; Fafard, Eve E; Robidoux, André A; Martin, Ginette G; Bismar, Tarek A TA; Tischkowitz, Marc M; Rousseau, Francois F; Narod, Steven A SA