BRCA2 c.964A>C ;(p.K322Q)

Variant ID: 13-32906579-A-C

NM_000059.3(BRCA2):c.964A>C;(p.K322Q)

This variant was identified in 40 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: 964A>C; Lys322Gln; rs11571640
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: rs11571640
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 3
View BVdb publication page



Concordance Between Recommendations From Multidisciplinary Molecular Tumor Boards and Central Consensus for Cancer Treatment in Japan.

Jama Network Open
Naito, Yoichi Y; Sunami, Kuniko K; Kage, Hidenori H; Komine, Keigo K; Amano, Toraji T; Imai, Mitsuho M; Koyama, Takafumi T; Ennishi, Daisuke D; Kanai, Masashi M; Kenmotsu, Hirotsugu H; Maeda, Takahiro T; Morita, Sachi S; Sakai, Daisuke D; Watanabe, Kousuke K; Shirota, Hidekazu H; Kinoshita, Ichiro I; Yoshioka, Masashiro M; Mamesaya, Nobuaki N; Ito, Mamoru M; Kohsaka, Shinji S; Saigusa, Yusuke Y; Yamamoto, Kouji K; Hirata, Makoto M; Tsuchihara, Katsuya K; Yoshino, Takayuki T
Publication Date: 2022-12-01

Variant appearance in text: BRCA2: K322Q
PubMed Link: 36469316
Variant Present in the following documents:
  • jamanetwopen-e2245081-s001.pdf
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: 964A>C; Lys322Gln
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
View BVdb publication page



Comparison of Homologous Recombination Repair Gene Next-Generation Sequencing Analysis in Patients With Metastatic Castration-Resistant Prostate Cancer Between Local and Central Laboratories in Korea.

Annals Of Laboratory Medicine
Kim, Yoonjung Y; Park, Inho I; Kim, Boyeon B; Choi, Yu Jeong YJ; Oh, Seoung Chul SC; Lee, Kyung-A KA
Publication Date: 2023-01-01

Variant appearance in text: BRCA2: 964A>C; Lys322Gln
PubMed Link: 36045058
Variant Present in the following documents:
  • alm-43-1-64-supple.pdf
  • alm-43-1-64.pdf
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: K322Q
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort.

Cell Genomics
Casaletto, James J; Parsons, Michael M; Markello, Charles C; Iwasaki, Yusuke Y; Momozawa, Yukihide Y; Spurdle, Amanda B AB; Cline, Melissa M
Publication Date: 2022-03-09

Variant appearance in text: BRCA2: 964A>C
PubMed Link: 35373174
Variant Present in the following documents:
  • Main text
  • nihms-1787799.pdf
View BVdb publication page



Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04

Variant appearance in text: BRCA2: 964A>C; K322Q; rs11571640
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page



Early dynamics of circulating tumor DNA predict clinical response to immune checkpoint inhibitors in metastatic renal cell carcinoma.

International Journal Of Urology : Official Journal Of The Japanese Urological Association
Koh, Yoko Y; Nakano, Kosuke K; Katayama, Kotoe K; Yamamichi, Gaku G; Yumiba, Satoru S; Tomiyama, Eisuke E; Matsushita, Makoto M; Hayashi, Yujiro Y; Yamamoto, Yoshiyuki Y; Kato, Taigo T; Hatano, Koji K; Kawashima, Atsunari A; Ujike, Takeshi T; Imamura, Ryoichi R; Yamaguchi, Rui R; Imoto, Seiya S; Shiotsu, Yukimasa Y; Nonomura, Norio N; Uemura, Motohide M
Publication Date: 2022-05

Variant appearance in text: BRCA2: 964A>C; K322Q; rs11571640
PubMed Link: 35184335
Variant Present in the following documents:
  • IJU-29-462-s002.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: BRCA2: K322Q; rs11571640
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study.

Scientific Reports
Kim, Joo Heung JH; Park, Sunggyun S; Park, Hyung Seok HS; Park, Ji Soo JS; Lee, Seung-Tae ST; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Noh, Woo-Chul WC; Choi, Doo Ho DH; Han, Wonshik W; Jung, Sung Hoo SH
Publication Date: 2021-04-19

Variant appearance in text: BRCA2: 964A>C; Lys322Gln; rs11571640
PubMed Link: 33875706
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_87792.pdf
View BVdb publication page



Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation.

Aging Cell
Fujita, Harumi H; Sasaki, Takashi T; Miyamoto, Tatsuo T; Akutsu, Silvia Natsuko SN; Sato, Showbu S; Mori, Takehiko T; Nakabayashi, Kazuhiko K; Hata, Kenichiro K; Suzuki, Hisato H; Kosaki, Kenjiro K; Matsuura, Shinya S; Matsubara, Yoichi Y; Amagai, Masayuki M; Kubo, Akiharu A
Publication Date: 2020-11

Variant appearance in text: BRCA2: 964A>C; K322Q; rs11571640
PubMed Link: 33094908
Variant Present in the following documents:
  • ACEL-19-e13251-s001.pdf
View BVdb publication page



Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.

Journal Of Gynecologic Oncology
Ha, Hyeong In HI; Ryu, Jin Sun JS; Shim, Hyoeun H; Kong, Sun Young SY; Lim, Myong Cheol MC
Publication Date: 2020-11

Variant appearance in text: BRCA2: 964A>C; Lys322Gln
PubMed Link: 33078592
Variant Present in the following documents:
  • Main text
  • jgo-31-e83-s008.xls, sheet 1
  • jgo-31-e83-s009.xls, sheet 1
  • jgo-31-e83-s007.xls, sheet 1
View BVdb publication page



Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07

Variant appearance in text: BRCA2: K322Q; rs11571640
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
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: 964A>C; Lys322Gln
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_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: BRCA2: 964A>C; Lys322Gln; rs11571640
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_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: 964A>C; Lys322Gln; rs11571640
PubMed Link: 31911673
Variant Present in the following documents:
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.

Oncotarget
Terashima, Takeshi T; Umemoto, Kumiko K; Takahashi, Hideaki H; Hosoi, Hiroko H; Takai, Erina E; Kondo, Shunsuke S; Sakamoto, Yasunari Y; Mitsunaga, Shuichi S; Ohno, Izumi I; Hashimoto, Yusuke Y; Sasaki, Mitsuhito M; Ikeda, Masafumi M; Shimada, Kazuaki K; Kaneko, Shuichi S; Yachida, Shinichi S; Sugano, Kokichi K; Okusaka, Takuji T; Morizane, Chigusa C
Publication Date: 2019-10-15

Variant appearance in text: BRCA2: 964A>C; Lys322Gln; rs11571640
PubMed Link: 31666926
Variant Present in the following documents:
  • oncotarget-10-5949-s002.xlsx, sheet 1
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: 964A>C; K322Q
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Human Mutation
Parsons, Michael T MT; Tudini, Emma E; Li, Hongyan H; Hahnen, Eric E; Wappenschmidt, Barbara B; Feliubadaló, Lidia L; Aalfs, Cora M CM; Agata, Simona S; Aittomäki, Kristiina K; Alducci, Elisa E; Alonso-Cerezo, María Concepción MC; Arnold, Norbert N; Auber, Bernd B; Austin, Rachel R; Azzollini, Jacopo J; Balmaña, Judith J; Barbieri, Elena E; Bartram, Claus R CR; Blanco, Ana A; Blümcke, Britta B; Bonache, Sandra S; Bonanni, Bernardo B; Borg, Åke Å; Bortesi, Beatrice B; Brunet, Joan J; Bruzzone, Carla C; Bucksch, Karolin K; Cagnoli, Giulia G; Caldés, Trinidad T; Caliebe, Almuth A; Caligo, Maria A MA; Calvello, Mariarosaria M; Capone, Gabriele L GL; Caputo, Sandrine M SM; Carnevali, Ileana I; Carrasco, Estela E; Caux-Moncoutier, Virginie V; Cavalli, Pietro P; Cini, Giulia G; Clarke, Edward M EM; Concolino, Paola P; Cops, Elisa J EJ; Cortesi, Laura L; Couch, Fergus J FJ; Darder, Esther E; de la Hoya, Miguel M; Dean, Michael M; Debatin, Irmgard I; Del Valle, Jesús J; Delnatte, Capucine C; Derive, Nicolas N; Diez, Orland O; Ditsch, Nina N; Domchek, Susan M SM; Dutrannoy, Véronique V; Eccles, Diana M DM; Ehrencrona, Hans H; Enders, Ute U; Evans, D Gareth DG; Farra, Chantal C; Faust, Ulrike U; Felbor, Ute U; Feroce, Irene I; Fine, Miriam M; Foulkes, William D WD; Galvao, Henrique C R HCR; Gambino, Gaetana G; Gehrig, Andrea A; Gensini, Francesca F; Gerdes, Anne-Marie AM; Germani, Aldo A; Giesecke, Jutta J; Gismondi, Viviana V; Gómez, Carolina C; Gómez Garcia, Encarna B EB; González, Sara S; Grau, Elia E; Grill, Sabine S; Gross, Eva E; Guerrieri-Gonzaga, Aliana A; Guillaud-Bataille, Marine M; Gutiérrez-Enríquez, Sara S; Haaf, Thomas T; Hackmann, Karl K; Hansen, Thomas V O TVO; Harris, Marion M; Hauke, Jan J; Heinrich, Tilman T; Hellebrand, Heide H; Herold, Karen N KN; Honisch, Ellen E; Horvath, Judit J; Houdayer, Claude C; Hübbel, Verena V; Iglesias, Silvia S; Izquierdo, Angel A; James, Paul A PA; Janssen, Linda A M LAM; Jeschke, Udo U; Kaulfuß, Silke S; Keupp, Katharina K; Kiechle, Marion M; Kölbl, Alexandra A; Krieger, Sophie S; Kruse, Torben A TA; Kvist, Anders A; Lalloo, Fiona F; Larsen, Mirjam M; Lattimore, Vanessa L VL; Lautrup, Charlotte C; Ledig, Susanne S; Leinert, Elena E; Lewis, Alexandra L AL; Lim, Joanna J; Loeffler, Markus M; López-Fernández, Adrià A; Lucci-Cordisco, Emanuela E; Maass, Nicolai N; Manoukian, Siranoush S; Marabelli, Monica M; Matricardi, Laura L; Meindl, Alfons A; Michelli, Rodrigo D RD; Moghadasi, Setareh S; Moles-Fernández, Alejandro A; Montagna, Marco M; Montalban, Gemma G; Monteiro, Alvaro N AN; Montes, Eva E; Mori, Luigi L; Moserle, Lidia L; Müller, Clemens R CR; Mundhenke, Christoph C; Naldi, Nadia N; Nathanson, Katherine L KL; Navarro, Matilde M; Nevanlinna, Heli H; Nichols, Cassandra B CB; Niederacher, Dieter D; Nielsen, Henriette R HR; Ong, Kai-Ren KR; Pachter, Nicholas N; Palmero, Edenir I EI; Papi, Laura L; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Perez-Segura, Pedro P; Pfeifer, Katharina K; Pineda, Marta M; Pohl-Rescigno, Esther E; Poplawski, Nicola K NK; Porfirio, Berardino B; Quante, Anne S AS; Ramser, Juliane J; Reis, Rui M RM; Revillion, Françoise F; Rhiem, Kerstin K; Riboli, Barbara B; Ritter, Julia J; Rivera, Daniela D; Rofes, Paula P; Rump, Andreas A; Salinas, Monica M; Sánchez de Abajo, Ana María AM; Schmidt, Gunnar G; Schoenwiese, Ulrike U; Seggewiß, Jochen J; Solanes, Ares A; Steinemann, Doris D; Stiller, Mathias M; Stoppa-Lyonnet, Dominique D; Sullivan, Kelly J KJ; Susman, Rachel R; Sutter, Christian C; Tavtigian, Sean V SV; Teo, Soo H SH; Teulé, Alex A; Thomassen, Mads M; Tibiletti, Maria Grazia MG; Tischkowitz, Marc M; Tognazzo, Silvia S; Toland, Amanda E AE; Tornero, Eva E; Törngren, Therese T; Torres-Esquius, Sara S; Toss, Angela A; Trainer, Alison H AH; Tucker, Katherine M KM; van Asperen, Christi J CJ; van Mackelenbergh, Marion T MT; Varesco, Liliana L; Vargas-Parra, Gardenia G; Varon, Raymonda R; Vega, Ana A; Velasco, Ángela Á; Vesper, Anne-Sophie AS; Viel, Alessandra A; Vreeswijk, Maaike P G MPG; Wagner, Sebastian A SA; Waha, Anke A; Walker, Logan C LC; Walters, Rhiannon J RJ; Wang-Gohrke, Shan S; Weber, Bernhard H F BHF; Weichert, Wilko W; Wieland, Kerstin K; Wiesmüller, Lisa L; Witzel, Isabell I; Wöckel, Achim A; Woodward, Emma R ER; Zachariae, Silke S; Zampiga, Valentina V; Zeder-Göß, Christine C; , ; Lázaro, Conxi C; De Nicolo, Arcangela A; Radice, Paolo P; Engel, Christoph C; Schmutzler, Rita K RK; Goldgar, David E DE; Spurdle, Amanda B AB
Publication Date: 2019-09

Variant appearance in text: BRCA2: 964A>C
PubMed Link: 31131967
Variant Present in the following documents:
  • HUMU-40-1557-s001.xlsx, sheet 1
  • HUMU-40-1557-s001.xlsx, sheet 2
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: 964A>C; Lys322Gln
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
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: BRCA2: 964A>C; Lys322Gln; rs11571640
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM4_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: BRCA2: 964A>C; K322Q
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
View BVdb publication page



Erratum: Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.

Journal Of Gynecologic Oncology
Choi, Min Chul MC; Bae, Jin Sik JS; Jung, Sang Geun SG; Park, Hyun H; Joo, Won Duk WD; Song, Seung Hun SH; Lee, Chan C; Kim, Ji Ho JH; Lee, Ki Chan KC; Lee, Sunghoon S; Lee, Je Ho JH
Publication Date: 2018-09

Variant appearance in text: BRCA2: 964A>C; Lys322Gln
PubMed Link: 30022640
Variant Present in the following documents:
  • jgo-29-e80.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: K322Q
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Mutations in BRCA1, BRCA2, and PALB2, and a panel of 50 cancer-associated genes in pancreatic ductal adenocarcinoma.

Scientific Reports
Takeuchi, Shoko S; Doi, Manami M; Ikari, Naoki N; Yamamoto, Masakazu M; Furukawa, Toru T
Publication Date: 2018-05-25

Variant appearance in text: BRCA2: K322Q; rs11571640
PubMed Link: 29802286
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.

Journal Of Gynecologic Oncology
Choi, Min Chul MC; Bae, Jin Sik JS; Jung, Sang Geun SG; Park, Hyun H; Joo, Won Duk WD; Song, Seung Hun SH; Lee, Chan C; Kim, Ji Ho JH; Lee, Ki Chan KC; Lee, Sunghoon S; Lee, Je Ho JH
Publication Date: 2018-07

Variant appearance in text: BRCA2: 964A>C; Lys322Gln
PubMed Link: 29770616
Variant Present in the following documents:
  • Main text
  • jgo-29-e43.pdf
View BVdb publication page



Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine
Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M
Publication Date: 2018-04-09

Variant appearance in text: BRCA2: K322Q
PubMed Link: 29642553
Variant Present in the following documents:
  • Main text
  • jpm-08-00013.pdf
View BVdb publication page



Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.

Cancer Science
Nakagomi, Hiroshi H; Mochizuki, Hitoshi H; Inoue, Masayuki M; Hirotsu, Yosuke Y; Amemiya, Kenji K; Sakamoto, Ikuko I; Nakagomi, Satoko S; Kubota, Takeo T; Omata, Masao M
Publication Date: 2018-02

Variant appearance in text: BRCA2: 964A>C; Lys322Gln
PubMed Link: 29215753
Variant Present in the following documents:
  • Main text
  • CAS-109-453.pdf
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: BRCA2: K322Q
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
  • emm2017142x5.xls, sheet 1
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: BRCA2: 964A>C; Lys322Gln
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Cancer Research And Treatment
Park, Ji Soo JS; Nam, Eun Ji EJ; Park, Hyung Seok HS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Jieun J; Kim, Tae Il TI; Lee, Seung-Tae ST
Publication Date: 2017-10

Variant appearance in text: BRCA2: K322Q
PubMed Link: 28111427
Variant Present in the following documents:
  • crt-2016-433-supple1.xlsx, sheet 1
  • crt-2016-433.pdf
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Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications
Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L
Publication Date: 2015-12-22

Variant appearance in text: BRCA2: K322Q
PubMed Link: 26689913
Variant Present in the following documents:
  • ncomms10086-s13.xlsx, sheet 1
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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs11571640
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015

Variant appearance in text: BRCA2: 964A>C; Lys322Gln; rs11571640
PubMed Link: 26332594
Variant Present in the following documents:
  • pone.0135193.s002.xls, sheet 1
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Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing.

Molecular Genetics & Genomic Medicine
Hirotsu, Yosuke Y; Nakagomi, Hiroshi H; Sakamoto, Ikuko I; Amemiya, Kenji K; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2015-03

Variant appearance in text: BRCA2: 964A>C; K322Q; rs11571640
PubMed Link: 25802882
Variant Present in the following documents:
  • Main text
  • mgg30003-0121.pdf
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Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

Bmc Medical Genetics
Silva, Felipe C FC; Lisboa, Bianca Cg BC; Figueiredo, Marcia Cp MC; Torrezan, Giovana T GT; Santos, Erika Mm EM; Krepischi, Ana C AC; Rossi, Benedito M BM; Achatz, Maria I MI; Carraro, Dirce M DM
Publication Date: 2014-05-15

Variant appearance in text: BRCA2: K322Q
PubMed Link: 24884479
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-55.pdf
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Therapeutic potential of the poly(ADP-ribose) polymerase inhibitor rucaparib for the treatment of sporadic human ovarian cancer.

Molecular Cancer Therapeutics
Ihnen, Maike M; zu Eulenburg, Christine C; Kolarova, Teodora T; Qi, Jing Wei JW; Manivong, Kanthinh K; Chalukya, Meenal M; Dering, Judy J; Anderson, Lee L; Ginther, Charles C; Meuter, Alexandra A; Winterhoff, Boris B; Jones, Siân S; Velculescu, Victor E VE; Venkatesan, Natarajan N; Rong, Hong-Mei HM; Dandekar, Sugandha S; Udar, Nitin N; Jänicke, Fritz F; Los, Gerrit G; Slamon, Dennis J DJ; Konecny, Gottfried E GE
Publication Date: 2013-06

Variant appearance in text: BRCA2: 964A>C; K322Q
PubMed Link: 23729402
Variant Present in the following documents:
  • Main text
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Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population.

Hawaii Medical Journal
Carney, Michael E ME; Basiliere, Michele S MS; Mates, Kiley K; Sing, Christina K CK
Publication Date: 2010-11

Variant appearance in text: BRCA2: K322Q
PubMed Link: 21218378
Variant Present in the following documents:
  • Main text
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Performance of BRCA1/2 mutation prediction models in Asian Americans.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Kurian, Allison W AW; Gong, Gail D GD; Chun, Nicolette M NM; Mills, Meredith A MA; Staton, Ashley D AD; Kingham, Kerry E KE; Crawford, Beth B BB; Lee, Robin R; Chan, Salina S; Donlon, Susan S SS; Ridge, Yolanda Y; Panabaker, Karen K; West, Dee W DW; Whittemore, Alice S AS; Ford, James M JM
Publication Date: 2008-10-10

Variant appearance in text: BRCA2: K322Q
PubMed Link: 18779604
Variant Present in the following documents:
  • Main text
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