PALB2 c.629C>T ;(p.P210L)

Variant ID: 16-23647238-G-A

NM_024675.3(PALB2):c.629C>T;(p.P210L)

This variant was identified in 21 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: 629C>T; Pro210Leu; rs57605939
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
  • crc-22-0136-s01.xlsx, sheet 2
View BVdb publication page



Hereditary variants of unknown significance in African American women with breast cancer.

Plos One
McDonald, J Tyson JT; Ricks-Santi, Luisel J LJ
Publication Date: 2022

Variant appearance in text: PALB2: P210L; rs57605939
PubMed Link: 36315513
Variant Present in the following documents:
  • pone.0273835.s001.xlsx, sheet 1
View BVdb publication page



Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Cancer Medicine
Vormittag-Nocito, Erica E; Kumar, Ravindra R; Narayan, Kunwar Digvijay KD; Chen, Zhengjia Z; David, Odile O; Behm, Frederick F; Mohapatra, Gayatry G
Publication Date: 2022-09-20

Variant appearance in text: PALB2: P210L
PubMed Link: 36125633
Variant Present in the following documents:
  • Main text
  • CAM4-12-4042-s001.xlsx, sheet 1
  • CAM4-12-4042.pdf
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: PALB2: 629C>T; P210L; rs57605939
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: PALB2: 629C>T; P210L; rs57605939
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: PALB2: 629C>T; Pro210Leu; rs57605939
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.

Frontiers In Molecular Biosciences
Boonen, Rick A C M RACM; Vreeswijk, Maaike P G MPG; van Attikum, Haico H
Publication Date: 2020

Variant appearance in text: PALB2: 629C>T; P210L
PubMed Link: 33195396
Variant Present in the following documents:
  • fmolb-07-00169.pdf
View BVdb publication page



Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Journal Of Medical Genetics
Song, Honglin H; Dicks, Ed M EM; Tyrer, Jonathan J; Intermaggio, Maria M; Chenevix-Trench, Georgia G; Bowtell, David D DD; Traficante, Nadia N; Group, Aocs A; Brenton, James J; Goranova, Teodora T; Hosking, Karen K; Piskorz, Anna A; van Oudenhove, Elke E; Doherty, Jen J; Harris, Holly R HR; Rossing, Mary Anne MA; Duerst, Matthias M; Dork, Thilo T; Bogdanova, Natalia V NV; Modugno, Francesmary F; Moysich, Kirsten K; Odunsi, Kunle K; Ness, Roberta R; Karlan, Beth Y BY; Lester, Jenny J; Jensen, Allan A; Krüger Kjaer, Susanne S; Høgdall, Estrid E; Campbell, Ian G IG; Lázaro, Conxi C; Pujara, Miguel Angel MA; Cunningham, Julie J; Vierkant, Robert R; Winham, Stacey J SJ; Hildebrandt, Michelle M; Huff, Chad C; Li, Donghui D; Wu, Xifeng X; Yu, Yao Y; Permuth, Jennifer B JB; Levine, Douglas A DA; Schildkraut, Joellen M JM; Riggan, Marjorie J MJ; Berchuck, Andrew A; Webb, Penelope M PM; Group, Opal Study OS; Cybulski, Cezary C; Gronwald, Jacek J; Jakubowska, Anna A; Lubinski, Jan J; Alsop, Jennifer J; Harrington, Patricia P; Chan, Isaac I; Menon, Usha U; Pearce, Celeste L CL; Wu, Anna H AH; de Fazio, Anna A; Kennedy, Catherine J CJ; Goode, Ellen E; Ramus, Susan S; Gayther, Simon S; Pharoah, Paul P
Publication Date: 2021-05

Variant appearance in text: PALB2: P210L
PubMed Link: 32546565
Variant Present in the following documents:
  • jmedgenet-2019-106739supp001.xlsx, sheet 7
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: PALB2: 629C>T; P210L; rs57605939
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Nature Communications
Boonen, Rick A C M RACM; Rodrigue, Amélie A; Stoepker, Chantal C; Wiegant, Wouter W WW; Vroling, Bas B; Sharma, Milan M; Rother, Magdalena B MB; Celosse, Nandi N; Vreeswijk, Maaike P G MPG; Couch, Fergus F; Simard, Jacques J; Devilee, Peter P; Masson, Jean-Yves JY; van Attikum, Haico H
Publication Date: 2019-11-22

Variant appearance in text: PALB2: P210L
PubMed Link: 31757951
Variant Present in the following documents:
  • Main text
  • 41467_2019_13194_MOESM1_ESM.pdf
  • 41467_2019_13194_MOESM4_ESM.xlsx, sheet 1
  • 41467_2019_Article_13194.pdf
View BVdb publication page



Functional characterization of 84 PALB2 variants of uncertain significance.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wiltshire, Timothy T; Ducy, Mandy M; Foo, Tzeh Keong TK; Hu, Chunling C; Lee, Kun Y KY; Belur Nagaraj, Anil A; Rodrigue, Amélie A; Gomes, Thiago T TT; Simard, Jacques J; Monteiro, Alvaro N A ANA; Xia, Bing B; Carvalho, Marcelo A MA; Masson, Jean-Yves JY; Couch, Fergus J FJ
Publication Date: 2020-03

Variant appearance in text: PALB2: 629C>T; P210L
PubMed Link: 31636395
Variant Present in the following documents:
  • Main text
  • 41436_2019_Article_682.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: PALB2: 629C>T; P210L
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A Bayesian framework for efficient and accurate variant prediction.

Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Publication Date: 2018

Variant appearance in text: PALB2: 629C>T; P210L
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
View BVdb publication page



Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11

Variant appearance in text: PALB2: 629C>T; Pro210Leu; rs57605939
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PALB2: 629C>T; Pro210Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.

Human Molecular Genetics
Permuth, Jennifer B JB; Pirie, Ailith A; Ann Chen, Y Y; Lin, Hui-Yi HY; Reid, Brett M BM; Chen, Zhihua Z; Monteiro, Alvaro A; Dennis, Joe J; Mendoza-Fandino, Gustavo G; , ; , ; Anton-Culver, Hoda H; Bandera, Elisa V EV; Bisogna, Maria M; Brinton, Louise L; Brooks-Wilson, Angela A; Carney, Michael E ME; Chenevix-Trench, Georgia G; Cook, Linda S LS; Cramer, Daniel W DW; Cunningham, Julie M JM; Cybulski, Cezary C; D'Aloisio, Aimee A AA; Anne Doherty, Jennifer J; Earp, Madalene M; Edwards, Robert P RP; Fridley, Brooke L BL; Gayther, Simon A SA; Gentry-Maharaj, Aleksandra A; Goodman, Marc T MT; Gronwald, Jacek J; Hogdall, Estrid E; Iversen, Edwin S ES; Jakubowska, Anna A; Jensen, Allan A; Karlan, Beth Y BY; Kelemen, Linda E LE; Kjaer, Suzanne K SK; Kraft, Peter P; Le, Nhu D ND; Levine, Douglas A DA; Lissowska, Jolanta J; Lubinski, Jan J; Matsuo, Keitaro K; Menon, Usha U; Modugno, Rosemary R; Moysich, Kirsten B KB; Nakanishi, Toru T; Ness, Roberta B RB; Olson, Sara S; Orlow, Irene I; Pearce, Celeste L CL; Pejovic, Tanja T; Poole, Elizabeth M EM; Ramus, Susan J SJ; Anne Rossing, Mary M; Sandler, Dale P DP; Shu, Xiao-Ou XO; Song, Honglin H; Taylor, Jack A JA; Teo, Soo-Hwang SH; Terry, Kathryn L KL; Thompson, Pamela J PJ; Tworoger, Shelley S SS; Webb, Penelope M PM; Wentzensen, Nicolas N; Wilkens, Lynne R LR; Winham, Stacey S; Woo, Yin-Ling YL; Wu, Anna H AH; Yang, Hannah H; Zheng, Wei W; Ziogas, Argyrios A; Phelan, Catherine M CM; Schildkraut, Joellen M JM; Berchuck, Andrew A; Goode, Ellen L EL; Pharoah, Paul D P PD; Sellers, Thomas A TA; ,
Publication Date: 2016-08-15

Variant appearance in text: rs57605939
PubMed Link: 27378695
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

Breast Cancer Research : Bcr
Thompson, Ella R ER; Gorringe, Kylie L KL; Rowley, Simone M SM; Wong-Brown, Michelle W MW; McInerny, Simone S; Li, Na N; Trainer, Alison H AH; Devereux, Lisa L; Doyle, Maria A MA; Li, Jason J; Lupat, Richard R; Delatycki, Martin B MB; , ; Mitchell, Gillian G; James, Paul A PA; Scott, Rodney J RJ; Campbell, Ian G IG
Publication Date: 2015-08-19

Variant appearance in text: PALB2: Pro210Leu; rs57605939
PubMed Link: 26283626
Variant Present in the following documents:
  • Main text
  • 13058_2015_Article_627.pdf
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: PALB2: P210L; rs57605939
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 3
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: PALB2: P210L; rs57605939
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
View BVdb publication page



Novel germline PALB2 truncating mutations in African American breast cancer patients.

Cancer
Zheng, Yonglan Y; Zhang, Jing J; Niu, Qun Q; Huo, Dezheng D; Olopade, Olufunmilayo I OI
Publication Date: 2012-03-01

Variant appearance in text: PALB2: 629C>T; Pro210Leu; rs57605939
PubMed Link: 21932393
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline mutations in PALB2 in African-American breast cancer cases.

Breast Cancer Research And Treatment
Ding, Yuan Chun YC; Steele, Linda L; Chu, Li-Hao LH; Kelley, Karen K; Davis, Helen H; John, Esther M EM; Tomlinson, Gail E GE; Neuhausen, Susan L SL
Publication Date: 2011-02

Variant appearance in text: PALB2: P210L; rs57605939
PubMed Link: 21113654
Variant Present in the following documents:
  • Main text
View BVdb publication page