BRCA2 c.122C>T ;(p.P41L)

Variant ID: 13-32893268-C-T

NM_000059.3(BRCA2):c.122C>T;(p.P41L)

This variant was identified in 22 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: BRCA2: 122C>T; P41L; rs786201716
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: rs786201716
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 3
View BVdb publication page



Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA2: 122C>T; Pro41Leu; rs786201716
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s006.xlsx, sheet 3
  • IJC-152-1159-s002.xlsx, sheet 2
View BVdb publication page



Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA2: P41L
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Rates of Variants of Uncertain Significance Among Patients With Breast Cancer Undergoing Genetic Testing: Regional Perspectives.

Frontiers In Oncology
Abdel-Razeq, Hikmat H; Tamimi, Faris F; Abujamous, Lama L; Abdel-Razeq, Rashid R; Abunasser, Mahmoud M; Edaily, Sara S; Abdulelah, Hazem H; Khashabeh, Razan Abu RA; Bater, Rayan R
Publication Date: 2022

Variant appearance in text: BRCA2: 122C>T; Pro41Leu
PubMed Link: 35402282
Variant Present in the following documents:
  • Main text
  • fonc-12-673094.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: BRCA2: 122C>T; P41L; rs786201716
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.

Oncotarget
Barakeh, Duna H DH; Aljelaify, Rasha R; Bashawri, Yara Y; Almutairi, Amal A; Alqubaishi, Fatimah F; Alnamnakani, Mohammed M; Almubarak, Latifa L; Al Naeem, Abdulrahman A; Almushawah, Fatema F; Alrashed, May M; Abedalthagafi, Malak M
Publication Date: 2021-03-30

Variant appearance in text: BRCA2: P41L
PubMed Link: 33868589
Variant Present in the following documents:
  • Main text
  • oncotarget-12-686.pdf
  • oncotarget-12-686-s002.xlsx, sheet 1
View BVdb publication page



Targeted sequencing of crucial cancer causing genes of breast cancer in Saudi patients.

Saudi Journal Of Biological Sciences
Alanazi, Mohammad M; Parine, Narasimha Reddy NR; Shaik, Jilani Purusottapatnam JP; Al Naeem, Abdulrahman A; Aldhaian, Sooad S
Publication Date: 2020-10

Variant appearance in text: BRCA2: P41L
PubMed Link: 32994724
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA2: 122C>T; Pro41Leu
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer.

Bmc Cancer
Eoh, Kyung Jin KJ; Kim, Hye Min HM; Lee, Jung-Yun JY; Kim, Sunghoon S; Kim, Sang Wun SW; Kim, Young Tae YT; Nam, Eun Ji EJ
Publication Date: 2020-03-12

Variant appearance in text: BRCA2: 122C>T; Pro41Leu
PubMed Link: 32164585
Variant Present in the following documents:
  • 12885_2020_6693_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC
Publication Date: 2020-05

Variant appearance in text: BRCA2: 122C>T; P41L; rs786201716
PubMed Link: 31911673
Variant Present in the following documents:
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
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: BRCA2: 122C>T; P41L
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: BRCA2: 122C>T; Pro41Leu
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



BRCA1/BRCA2 Mutations Shaped by Ancient Consanguinity Practice in Southern Mediterranean Populations

Asian Pacific Journal Of Cancer Prevention : Apjcp
Belaiba, Fadoua F; Medimegh, Imene I; Bidet, Yannick Y; Boussetta, Sami S; Baroudi, Olfa O; Mezlini, Amel A; Bignon, Yves Jean YJ; Benammar El gaaied, Amel A
Publication Date: 2018-10-26

Variant appearance in text: BRCA2: P41L
PubMed Link: 30362333
Variant Present in the following documents:
  • Main text
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: BRCA2: 122C>T; P41L
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
View BVdb publication page



Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.

Journal Of Global Oncology
Abulkhair, Omalkhair O; Al Balwi, Mohammed M; Makram, Ola O; Alsubaie, Lamia L; Faris, Medhat M; Shehata, Hussam H; Hashim, Ahmed A; Arun, Banu B; Saadeddin, Ahmed A; Ibrahim, Ezzeldin E
Publication Date: 2018-08

Variant appearance in text: BRCA2: 122C>T
PubMed Link: 30199306
Variant Present in the following documents:
  • JGO.18.00066.pdf
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA2: P41L
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.

Bmc Medical Genetics
Elimam, Alsmawal A AA; Aabdein, Mohamed Elmogtba Mouaweia Mohamed MEMM; Eldeen, Mohamed El-Fatih Moly MEM; Altayb, Hisham N HN; Taha, Mohamed Adel MA; Nimir, Mohammed N MN; Dafaalla, Mohamed D MD; Alfaki, Musaab M MM; Abdelrahim, Mohamed A MA; Abdalla, Abdelmohaymin A AA; Mohammed, Musab I MI; Ellaithi, Mona M; Hamid, Muzamil Mahdi Abdel MMA; Hassan, Mohamed Ahmed Salih MAS
Publication Date: 2017-08-16

Variant appearance in text: BRCA2: 122C>T
PubMed Link: 28814288
Variant Present in the following documents:
  • 12881_2017_Article_448.pdf
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: BRCA2: P41L
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: BRCA2: P41L
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: BRCA2: P41L
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page