PALB2 c.2257C>T ;(p.R753*)

Variant ID: 16-23641218-G-A

NM_024675.3(PALB2):c.2257C>T;(p.R753*)

This variant was identified in 59 publications

View GRCh38 version.




Publications:


Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Biomedicines
Cătană, Andreea A; Trifa, Adrian P AP; Achimas-Cadariu, Patriciu A PA; Bolba-Morar, Gabriela G; Lisencu, Carmen C; Kutasi, Eniko E; Chelaru, Vlad F VF; Muntean, Maximilian M; Martin, Daniela L DL; Antone, Nicoleta Z NZ; Fetica, Bogdan B; Pop, Florina F; Militaru, Mariela S MS
Publication Date: 2023-05-08

Variant appearance in text: PALB2: 2257C>T; Arg753Ter
PubMed Link: 37239058
Variant Present in the following documents:
  • Main text
  • biomedicines-11-01386.pdf
View BVdb publication page



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: 2257C>T; R753*; rs180177110
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Prevalence of Pathogenic Germline Mutations in 13 Hereditary Cancer-Related Genes in Breast Cancer Patients in Narathiwat Province, Thailand.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Sukpan, Panupong P; Kanokwiroon, Kanyanatt K; Sriplung, Hutcha H; Laochareonsuk, Wison W; Choochuen, Pongsakorn P; Auseng, Nasuha N; Wanawanakorn, Kasemsun K; Sangkhathat, Surasak S
Publication Date: 2023-02-01

Variant appearance in text: PALB2: 2257C>T; Arg753Ter
PubMed Link: 36853301
Variant Present in the following documents:
  • Main text
  • APJCP-24-525.pdf
View BVdb publication page



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: 2257C>T; Arg753Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics
Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G
Publication Date: 2023-01-03

Variant appearance in text: PALB2: 2257C>T; R753*; rs180177110
PubMed Link: 36595552
Variant Present in the following documents:
  • pgen.1010563.s004.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: PALB2: 2257C>T; Arg753*
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.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: 2257C>T; rs180177110
PubMed Link: 36125633
Variant Present in the following documents:
  • CAM4-12-4042-s001.xlsx, sheet 1
View BVdb publication page



Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.

Frontiers In Oncology
Paixão, Daniele D; Torrezan, Giovana Tardin GT; Santiago, Karina Miranda KM; Formiga, Maria Nirvana MN; Ahuno, Samuel Terkper ST; Dias-Neto, Emmanuel E; Tojal da Silva, Israel I; Foulkes, William D WD; Polak, Paz P; Carraro, Dirce Maria DM
Publication Date: 2022

Variant appearance in text: PALB2: 2257C>T; Arg753Ter; rs180177110
PubMed Link: 36119527
Variant Present in the following documents:
  • Main text
  • fonc-12-976959.pdf
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: PALB2: 2257C>T; R753*
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: PALB2: 2257C>T; R753*
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.

Cancer Treatment And Research Communications
Lehrer, Steven S; Rheinstein, Peter H PH
Publication Date: 2022

Variant appearance in text: PALB2: 2257C>T
PubMed Link: 35779338
Variant Present in the following documents:
  • nihms-1820308.pdf
View BVdb publication page



Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance
Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM
Publication Date: 2022-09

Variant appearance in text: PALB2: 2257C>T; Arg753Ter; rs180177110
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS3.xlsx, sheet 3
  • LSA-2021-01319_TableS1.xlsx, sheet 1
View BVdb publication page



Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.

Bmc Medicine
Ho, Peh Joo PJ; Ho, Weang Kee WK; Khng, Alexis J AJ; Yeoh, Yen Shing YS; Tan, Benita Kiat-Tee BK; Tan, Ern Yu EY; Lim, Geok Hoon GH; Tan, Su-Ming SM; Tan, Veronique Kiak Mien VKM; Yip, Cheng-Har CH; Mohd-Taib, Nur-Aishah NA; Wong, Fuh Yong FY; Lim, Elaine Hsuen EH; Ngeow, Joanne J; Chay, Wen Yee WY; Leong, Lester Chee Hao LCH; Yong, Wei Sean WS; Seah, Chin Mui CM; Tang, Siau Wei SW; Ng, Celene Wei Qi CWQ; Yan, Zhiyan Z; Lee, Jung Ah JA; Rahmat, Kartini K; Islam, Tania T; Hassan, Tiara T; Tai, Mei-Chee MC; Khor, Chiea Chuen CC; Yuan, Jian-Min JM; Koh, Woon-Puay WP; Sim, Xueling X; Dunning, Alison M AM; Bolla, Manjeet K MK; Antoniou, Antonis C AC; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M
Publication Date: 2022-04-26

Variant appearance in text: PALB2: 2257C>T; Arg753Ter
PubMed Link: 35468796
Variant Present in the following documents:
  • 12916_2022_2334_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.

Molecular Genetics And Genomics : Mgg
Molina-Zayas, María M; Garrido-Navas, Carmen C; García-Puche, Jose Luis JL; Barwell, Julian J; Pedrinaci, Susana S; Atienza, Margarita Martínez MM; García-Linares, Susana S; de Haro-Muñoz, Tomás T; Lorente, Jose Antonio JA; Serrano, M Jose MJ; Poyatos-Andújar, Antonio A
Publication Date: 2022-05

Variant appearance in text: PALB2: 2257C>T; Arg753Ter; rs180177110
PubMed Link: 35451682
Variant Present in the following documents:
  • Main text
  • 438_2022_Article_1891.pdf
View BVdb publication page



Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia.

Blood Science (Baltimore, Md.)
Zhu, Haichuan H; Dong, Bingjie B; Zhang, Yingchi Y; Wang, Mei M; Rao, Jianan J; Cui, Bowen B; Liu, Yu Y; Jiang, Qian Q; Wang, Weitao W; Yang, Lu L; Yu, Anqi A; Li, Zongru Z; Liu, Chao C; Zhang, Leping L; Huang, Xiaojun X; Zhu, Xiaofan X; Wu, Hong H
Publication Date: 2022-01

Variant appearance in text: PALB2: R753*
PubMed Link: 35399540
Variant Present in the following documents:
  • bls-4-16-s005.xlsx, sheet 2
View BVdb publication page



Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open
Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y
Publication Date: 2022-02-01

Variant appearance in text: PALB2: 2257C>T; Arg753Ter
PubMed Link: 35171259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open
Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y
Publication Date: 2022-02-01

Variant appearance in text: PALB2: 2257C>T; Arg753Ter
PubMed Link: 35171259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: PALB2: 2257C>T; R753*
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Up-Front Multigene Panel Testing for Cancer Susceptibility in Patients With Newly Diagnosed Endometrial Cancer: A Multicenter Prospective Study.

Jco Precision Oncology
Levine, Monica D MD; Pearlman, Rachel R; Hampel, Heather H; Cosgrove, Casey C; Cohn, David D; Chassen, Alexis A; Suarez, Adrian A; Barrington, David A DA; McElroy, Joseph P JP; Waggoner, Steven S; Nakayama, John J; Billingsley, Caroline C; Resnick, Kim K; Andrews, Stephen S; Singh, Sareena S; Jenison, Eric E; Clements, Aine A; Neff, Robert R; Goodfellow, Paul J PJ; ,
Publication Date: 2021-11

Variant appearance in text: PALB2: Arg753*
PubMed Link: 34994648
Variant Present in the following documents:
  • po-5-1588.pdf
View BVdb publication page



Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg
McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER
Publication Date: 2022-03

Variant appearance in text: PALB2: 2257C>T; Arg753Ter
PubMed Link: 34983940
Variant Present in the following documents:
  • 41431_2021_1013_MOESM1_ESM.pdf
View BVdb publication page



Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Genome Medicine
Ho, Peh Joo PJ; Khng, Alexis J AJ; Loh, Hui Wen HW; Ho, Weang-Kee WK; Yip, Cheng Har CH; Mohd-Taib, Nur Aishah NA; Tan, Veronique Kiak Mien VKM; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Ern Yu EY; Lim, Swee Ho SH; Jamaris, Suniza S; Sim, Yirong Y; Wong, Fuh Yong FY; Ngeow, Joanne J; Lim, Elaine Hsuen EH; Tai, Mei Chee MC; Wijaya, Eldarina Azfar EA; Lee, Soo Chin SC; Chan, Ching Wan CW; Buhari, Shaik Ahmad SA; Chan, Patrick M Y PMY; Chen, Juliana J C JJC; Seah, Jaime Chin Mui JCM; Lee, Wai Peng WP; Mok, Chi Wei CW; Lim, Geok Hoon GH; Woo, Evan E; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Dunning, Alison M AM; Easton, Douglas F DF; Schmidt, Marjanka K MK; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M
Publication Date: 2021-12-02

Variant appearance in text: PALB2: 2257C>T; Arg753Ter
PubMed Link: 34857041
Variant Present in the following documents:
  • 13073_2021_978_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Cancer Research And Treatment
Park, Ji Soo JS; Shin, Saeam S; Lee, Yoon Jung YJ; Lee, Seung-Tae ST; Nam, Eun Ji EJ; Han, Jung Woo JW; Lee, Sun Hwa SH; Kim, Tae Il TI; Park, Hyung Seok HS
Publication Date: 2022-10

Variant appearance in text: PALB2: 2257C>T; Arg753Ter
PubMed Link: 34793666
Variant Present in the following documents:
  • crt-2021-978.pdf
View BVdb publication page



Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.

Jnci Cancer Spectrum
Fan, Xiao X; Wynn, Julia J; Shang, Ning N; Liu, Cong C; Fedotov, Alexander A; Hallquist, Miranda L G MLG; Buchanan, Adam H AH; Williams, Marc S MS; Smith, Maureen E ME; Hoell, Christin C; Rasmussen-Torvik, Laura J LJ; Peterson, Josh F JF; Wiesner, Georgia L GL; Murad, Andrea M AM; Jarvik, Gail P GP; Gordon, Adam S AS; Rosenthal, Elisabeth A EA; Stanaway, Ian B IB; Crosslin, David R DR; Larson, Eric B EB; Leppig, Kathleen A KA; Henrikson, Nora B NB; Williams, Janet L JL; Li, Rongling R; Hebbring, Scott S; Weng, Chunhua C; Shen, Yufeng Y; Crew, Katherine D KD; Chung, Wendy K WK
Publication Date: 2021-08

Variant appearance in text: PALB2: 2257C>T
PubMed Link: 34377931
Variant Present in the following documents:
  • pkab044_supplementary_data.pdf
View BVdb publication page



Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.

Jnci Cancer Spectrum
Fan, Xiao X; Wynn, Julia J; Shang, Ning N; Liu, Cong C; Fedotov, Alexander A; Hallquist, Miranda L G MLG; Buchanan, Adam H AH; Williams, Marc S MS; Smith, Maureen E ME; Hoell, Christin C; Rasmussen-Torvik, Laura J LJ; Peterson, Josh F JF; Wiesner, Georgia L GL; Murad, Andrea M AM; Jarvik, Gail P GP; Gordon, Adam S AS; Rosenthal, Elisabeth A EA; Stanaway, Ian B IB; Crosslin, David R DR; Larson, Eric B EB; Leppig, Kathleen A KA; Henrikson, Nora B NB; Williams, Janet L JL; Li, Rongling R; Hebbring, Scott S; Weng, Chunhua C; Shen, Yufeng Y; Crew, Katherine D KD; Chung, Wendy K WK
Publication Date: 2021-08

Variant appearance in text: PALB2: 2257C>T
PubMed Link: 34377931
Variant Present in the following documents:
  • pkab044_supplementary_data.pdf
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: 2257C>T; R753*
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



The germline/somatic DNA damage repair gene mutations modulate the therapeutic response in Chinese patients with advanced pancreatic ductal adenocarcinoma.

Journal Of Translational Medicine
Shui, Lin L; Li, Xiaofen X; Peng, Yang Y; Tian, Jiangfang J; Li, Shuangshuang S; He, Du D; Li, Ang A; Tian, Bole B; Li, Mao M; Gao, Heli H; An, Ning N; Yi, Cheng C; Cao, Dan D
Publication Date: 2021-07-12

Variant appearance in text: PALB2: R753*
PubMed Link: 34247626
Variant Present in the following documents:
  • Main text
  • 12967_2021_Article_2972.pdf
View BVdb publication page



Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes

Frontiers In Oncology
Doddato, Gabriella G; Valentino, Floriana F; Giliberti, Annarita A; Papa, Filomena Tiziana FT; Tita, Rossella R; Bruno, Lucia Pia LP; Resciniti, Sara S; Fallerini, Chiara C; Benetti, Elisa E; Palmieri, Maria M; Mencarelli, Maria Antonietta MA; Fabbiani, Alessandra A; Bruttini, Mirella M; Orrico, Alfredo A; Baldassarri, Margherita M; Fava, Francesca F; Lopergolo, Diego D; Lo Rizzo, Caterina C; Lamacchia, Vittoria V; Mannucci, Sara S; Pinto, Anna Maria AM; Curr, Aurora A; Mancini, Virginia V; , ; , ; Mari, Francesca F; Renieri, Alessandra A; Ariani, Francesca F
Publication Date: 2021

Variant appearance in text: PALB2: 2257C>T; Arg753*; rs180177110
PubMed Link: 34026625
Variant Present in the following documents:
  • Main text
  • fonc-11-649435.pdf
View BVdb publication page



Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.

Journal Of Medical Genetics
Ng, Pei Sze PS; Boonen, Rick Acm RA; Wijaya, Eldarina E; Chong, Chan Eng CE; Sharma, Milan M; Knaup, Sabine S; Mariapun, Shivaani S; Ho, Weang Kee WK; Lim, Joanna J; Yoon, Sook-Yee SY; Mohd Taib, Nur Aishah NA; See, Mee Hoong MH; Li, Jingmei J; Lim, Swee Ho SH; Tan, Ern Yu EY; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Veronique Kiat-Mien VK; van Dam, Rob Martinus RM; Rahmat, Kartini K; Yip, Cheng Har CH; Carvalho, Sara S; Luccarini, Craig C; Baynes, Caroline C; Dunning, Alison M AM; Antoniou, Antonis A; van Attikum, Haico H; Easton, Douglas F DF; Hartman, Mikael M; Teo, Soo Hwang SH
Publication Date: 2022-05

Variant appearance in text: PALB2: 2257C>T; R753X
PubMed Link: 33811135
Variant Present in the following documents:
  • Main text
  • jmedgenet-2020-107471.pdf
View BVdb publication page



Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma.

Cancers
Fountzilas, Elena E; Eliades, Alexia A; Koliou, Georgia-Angeliki GA; Achilleos, Achilleas A; Loizides, Charalambos C; Tsangaras, Kyriakos K; Pectasides, Dimitrios D; Sgouros, Joseph J; Papakostas, Pavlos P; Rallis, Grigorios G; Psyrri, Amanda A; Papadimitriou, Christos C; Oikonomopoulos, Georgios G; Ferentinos, Konstantinos K; Koumarianou, Anna A; Zarkavelis, George G; Dervenis, Christos C; Aravantinos, Gerasimos G; Bafaloukos, Dimitrios D; Kosmidis, Paris P; Papaxoinis, George G; Theochari, Maria M; Varthalitis, Ioannis I; Kentepozidis, Nikolaos N; Rigakos, Georgios G; Saridaki, Zacharenia Z; Nikolaidi, Adamantia A; Christopoulou, Athina A; Fostira, Florentia F; Samantas, Epaminontas E; Kypri, Elena E; Ioannides, Marios M; Koumbaris, George G; Fountzilas, George G; Patsalis, Philippos C PC
Publication Date: 2021-01-08

Variant appearance in text: PALB2: 2257C>T; Arg753Ter
PubMed Link: 33429865
Variant Present in the following documents:
  • cancers-13-00198-s001.pdf
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: PALB2: R753*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s004.xlsx, sheet 1
View BVdb publication page



Common germline-somatic variant interactions in advanced urothelial cancer.

Nature Communications
Vosoughi, Aram A; Zhang, Tuo T; Shohdy, Kyrillus S KS; Vlachostergios, Panagiotis J PJ; Wilkes, David C DC; Bhinder, Bhavneet B; Tagawa, Scott T ST; Nanus, David M DM; Molina, Ana M AM; Beltran, Himisha H; Sternberg, Cora N CN; Motanagh, Samaneh S; Robinson, Brian D BD; Xiang, Jenny J; Fan, Xiao X; Chung, Wendy K WK; Rubin, Mark A MA; Elemento, Olivier O; Sboner, Andrea A; Mosquera, Juan Miguel JM; Faltas, Bishoy M BM
Publication Date: 2020-12-03

Variant appearance in text: PALB2: 2257C>T; Arg753*; rs180177110
PubMed Link: 33273457
Variant Present in the following documents:
  • 41467_2020_19971_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications
Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM
Publication Date: 2020-11-10

Variant appearance in text: PALB2: R753*
PubMed Link: 33173047
Variant Present in the following documents:
  • 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.

Cancers
Fanale, Daniele D; Incorvaia, Lorena L; Filorizzo, Clarissa C; Bono, Marco M; Fiorino, Alessia A; Calò, Valentina V; Brando, Chiara C; Corsini, Lidia Rita LR; Barraco, Nadia N; Badalamenti, Giuseppe G; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2020-08-25

Variant appearance in text: PALB2: 2257C>T; Arg753Ter
PubMed Link: 32854451
Variant Present in the following documents:
  • Main text
  • cancers-12-02415.pdf
View BVdb publication page



Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
,
Publication Date: 2020-09

Variant appearance in text: PALB2: 2257C>T; Arg753*
PubMed Link: 32546831
Variant Present in the following documents:
  • NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International
Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M
Publication Date: 2020

Variant appearance in text: rs180177110
PubMed Link: 32489320
Variant Present in the following documents:
  • 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: PALB2: 2257C>T; Arg753*; rs180177110
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



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.

Cancer
Zhou, Jiaojiao J; Wang, Honglian H; Fu, Fangmeng F; Li, Zhanwen Z; Feng, Qingjian Q; Wu, Weizhu W; Liu, Yun Y; Wang, Chuan C; Chen, Yiding Y
Publication Date: 2020-07-15

Variant appearance in text: PALB2: 2257C>T; Arg753Ter
PubMed Link: 32339256
Variant Present in the following documents:
View BVdb publication page



Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Yadav, Siddhartha S; Hu, Chunling C; Hart, Steven N SN; Boddicker, Nicholas N; Polley, Eric C EC; Na, Jie J; Gnanaolivu, Rohan R; Lee, Kun Y KY; Lindstrom, Tricia T; Armasu, Sebastian S; Fitz-Gibbon, Patrick P; Ghosh, Karthik K; Stan, Daniela L DL; Pruthi, Sandhya S; Neal, Lonzetta L; Sandhu, Nicole N; Rhodes, Deborah J DJ; Klassen, Christine C; Peethambaram, Prema P PP; Haddad, Tufia C TC; Olson, Janet E JE; Hoskin, Tanya L TL; Goetz, Matthew P MP; Domchek, Susan M SM; Boughey, Judy C JC; Ruddy, Kathryn J KJ; Couch, Fergus J FJ
Publication Date: 2020-05-01

Variant appearance in text: PALB2: Arg753X
PubMed Link: 32125938
Variant Present in the following documents:
  • JCO.19.02190.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: PALB2: 2257C>T; Arg753*; rs180177110
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Journal Of Medical Genetics
Fostira, Florentia F; Kostantopoulou, Irene I; Apostolou, Paraskevi P; Papamentzelopoulou, Myrto S MS; Papadimitriou, Christos C; Faliakou, Eleni E; Christodoulou, Christos C; Boukovinas, Ioannis I; Razis, Evangelia E; Tryfonopoulos, Dimitrios D; Barbounis, Vasileios V; Vagena, Andromache A; Vlachos, Ioannis S IS; Kalfakakou, Despoina D; Fountzilas, George G; Yannoukakos, Drakoulis D
Publication Date: 2020-01

Variant appearance in text: PALB2: 2257C>T
PubMed Link: 31300551
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer
Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G
Publication Date: 2019-06-03

Variant appearance in text: PALB2: 2257C>T; Arg753Ter; rs180177110
PubMed Link: 31159747
Variant Present in the following documents:
  • 12885_2019_5756_MOESM5_ESM.pdf
  • 12885_2019_5756_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.

Cancer Medicine
Wang, Jiayu J; Li, Weiwei W; Shi, Yujian Y; Huang, Yan Y; Sun, Tao T; Tang, Lili L; Lu, Qing Q; Lei, Qiumo Q; Liao, Ning N; Jin, Feng F; Li, Hui H; Huang, Tao T; Qian, Jun J; Pang, Danmei D; Wang, Shusen S; Fan, Peizhi P; Wu, Xinhong X; Lin, Ying Y; Qin, Haiyan H; Xu, Binghe B
Publication Date: 2019-05

Variant appearance in text: PALB2: 2257C>T; Arg753Ter
PubMed Link: 30982232
Variant Present in the following documents:
  • CAM4-8-2074-s004.xlsx, sheet 1
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: PALB2: R753X; rs180177110
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Oncotarget
Fountzilas, Elena E; Kotoula, Vassiliki V; Tikas, Ioannis I; Manousou, Kyriaki K; Papadopoulou, Kyriaki K; Poulios, Christos C; Karavasilis, Vasilios V; Efstratiou, Ioannis I; Pectasides, Dimitrios D; Papaparaskeva, Kleo K; Varthalitis, Ioannis I; Christodoulou, Christos C; Papatsibas, George G; Chrisafi, Sofia S; Glantzounis, Georgios K GK; Psyrri, Amanda A; Aravantinos, Gerasimos G; Koliou, Georgia-Angeliki GA; Koukoulis, George K GK; Pentheroudakis, George E GE; Fountzilas, George G
Publication Date: 2018-11-02

Variant appearance in text: PALB2: Arg753Ter
PubMed Link: 30479693
Variant Present in the following documents:
  • oncotarget-09-35623-s001.pdf
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: PALB2: 2257C>T; Arg753*; rs180177110
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM1_ESM.pdf
View BVdb publication page



An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: PALB2: R753*
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30
View BVdb publication page



Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease.

British Journal Of Cancer
Mijuskovic, Martina M; Saunders, Edward J EJ; Leongamornlert, Daniel A DA; Wakerell, Sarah S; Whitmore, Ian I; Dadaev, Tokhir T; Cieza-Borrella, Clara C; Govindasami, Koveela K; Brook, Mark N MN; Haiman, Christopher A CA; Conti, David V DV; Eeles, Rosalind A RA; Kote-Jarai, Zsofia Z
Publication Date: 2018-07

Variant appearance in text: PALB2: R753*; rs180177110
PubMed Link: 29915322
Variant Present in the following documents:
  • Main text
  • 41416_2018_Article_141.pdf
View BVdb publication page



Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oncotarget
Oliveira, Duarte Mendes DM; Laudanna, Carmelo C; Migliozzi, Simona S; Zoppoli, Pietro P; Santamaria, Gianluca G; Grillone, Katia K; Elia, Laura L; Mignogna, Chiara C; Biamonte, Flavia F; Sacco, Rosario R; Corcione, Francesco F; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A
Publication Date: 2018-05-08

Variant appearance in text: PALB2: R753*; rs180177110
PubMed Link: 29844865
Variant Present in the following documents:
  • oncotarget-09-23960-s003.xlsx, sheet 1
View BVdb publication page



Germline breast cancer susceptibility gene mutations and breast cancer outcomes.

Bmc Cancer
Wang, Yong Alison YA; Jian, Jhih-Wei JW; Hung, Chen-Fang CF; Peng, Hung-Pin HP; Yang, Chi-Fan CF; Cheng, Hung-Chun Skye HS; Yang, An-Suei AS
Publication Date: 2018-03-22

Variant appearance in text: PALB2: 2257C>T; Arg753Ter; rs180177110
PubMed Link: 29566657
Variant Present in the following documents:
  • Main text
  • 12885_2018_4229_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer.

Bmc Cancer
Park, Ji Soo JS; Lee, Seung-Tae ST; Nam, Eun Ji EJ; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Jieun J; Kim, Tae Il TI; Park, Hyung Seok HS
Publication Date: 2018-01-16

Variant appearance in text: PALB2: Arg753Ter; rs180177110
PubMed Link: 29338689
Variant Present in the following documents:
  • Main text
  • 12885_2017_Article_3940.pdf
View BVdb publication page



Clinical and genetic characterization of hereditary breast cancer in a Chinese population.

Hereditary Cancer In Clinical Practice
Jian, Wenjing W; Shao, Kang K; Qin, Qi Q; Wang, Xiaohong X; Song, Shufen S; Wang, Xianming X
Publication Date: 2017

Variant appearance in text: PALB2: R753X
PubMed Link: 29093764
Variant Present in the following documents:
  • Main text
  • 13053_2017_Article_79.pdf
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: 2257C>T; Arg753Ter; rs180177110
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: 2257C>T; Arg753Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

Breast Cancer Research And Treatment
Crawford, Beth B; Adams, Sophie B SB; Sittler, Taylor T; van den Akker, Jeroen J; Chan, Salina S; Leitner, Ofri O; Ryan, Lauren L; Gil, Elad E; van 't Veer, Laura L
Publication Date: 2017-06

Variant appearance in text: PALB2: 2257C>T
PubMed Link: 28281021
Variant Present in the following documents:
  • Main text
View BVdb publication page



Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics
Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ
Publication Date: 2017-04

Variant appearance in text: PALB2: 2257C>T; Arg753Ter
PubMed Link: 28191890
Variant Present in the following documents:
  • NIHMS845776-supplement-4.xlsx, sheet 1
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: PALB2: 2257C>T; R753*
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s004.xlsx, sheet 1
  • pone.0170843.s003.xlsx, sheet 1
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: PALB2: R753*
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



PALB2 and breast cancer: ready for clinical translation!

The Application Of Clinical Genetics
Southey, Melissa C MC; Teo, Zhi L ZL; Winship, Ingrid I
Publication Date: 2013

Variant appearance in text: PALB2: Arg753*
PubMed Link: 23935381
Variant Present in the following documents:
  • Main text
  • tacg-6-043.pdf
View BVdb publication page



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; ,
Publication Date: 2010

Variant appearance in text: PALB2: 2257C>T; R753X
PubMed Link: 21182766
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2011-04

Variant appearance in text: PALB2: R753X
PubMed Link: 21165770
Variant Present in the following documents:
  • Main text
View BVdb publication page