APC c.3920T>A ;(p.I1307K)

Variant ID: 5-112175211-T-A

NM_000038.5(APC):c.3920T>A;(p.I1307K)

This variant was identified in 269 publications

View GRCh38 version.




Publications:


BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.

Plos One
Wei, Christina H CH; Shehayeb, Susan S; Santiago, Nicole Lugo NL; Kruper, Laura L; Han, Ernest E; Wang, Edward E; Cristea, Mihaela M; Rodriguez-Rodriguez, Lorna L; Yost, Susan E SE; Stewart, Daphne D
Publication Date: 2023

Variant appearance in text: APC: 3920T>A
PubMed Link: 37310942
Variant Present in the following documents:
  • Main text
  • pone.0286998.pdf
View BVdb publication page



Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.

Genes
Avnat, Eden E; Shapira, Guy G; Shoval, Shelly S; Israel-Elgali, Ifat I; Alkelai, Anna A; Shuldiner, Alan R AR; Gonzaga-Jauregui, Claudia C; Zidan, Jamal J; Maray, Taiseer T; Shomron, Noam N; Friedman, Eitan E
Publication Date: 2023-04-18

Variant appearance in text: APC: I1307K
PubMed Link: 37107695
Variant Present in the following documents:
  • Main text
  • genes-14-00937.pdf
View BVdb publication page



Diagnostic yield of genetic screening in a diverse, community-ascertained cohort.

Genome Medicine
Rao, Nandana D ND; Kaganovsky, Jailanie J; Malouf, Emily A EA; Coe, Sandy S; Huey, Jennifer J; Tsinajinne, Darwin D; Hassan, Sajida S; King, Kristine M KM; Fullerton, Stephanie M SM; Chen, Annie T AT; Shirts, Brian H BH
Publication Date: 2023-04-18

Variant appearance in text: APC: Ile1307Lys
PubMed Link: 37069702
Variant Present in the following documents:
  • Main text
  • 13073_2023_Article_1174.pdf
View BVdb publication page



Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Medrxiv : The Preprint Server For Health Sciences
Abul-Husn, Noura S NS; Marathe, Priya N PN; Kelly, Nicole R NR; Bonini, Katherine E KE; Sebastin, Monisha M; Odgis, Jacqueline A JA; Abhyankar, Avinash A; Brown, Kaitlyn K; Di Biase, Miranda M; Gallagher, Katie M KM; Guha, Saurav S; Ioele, Nicolette N; Okur, Volkan V; Ramos, Michelle A MA; Rodriguez, Jessica E JE; Rehman, Atteeq U AU; Thomas-Wilson, Amanda A; Edelmann, Lisa L; Zinberg, Randi E RE; Diaz, George A GA; Greally, John M JM; Jobanputra, Vaidehi V; Suckiel, Sabrina A SA; Horowitz, Carol R CR; Wasserstein, Melissa P MP; Kenny, Eimear E EE; Gelb, Bruce D BD
Publication Date: 2023-03-20

Variant appearance in text: APC: 3920T>A; Ile1307Lys
PubMed Link: 36993157
Variant Present in the following documents:
  • media-4.pdf
View BVdb publication page



Targeting FGFR Pathway Is Not an Effective Therapeutic Strategy in Patients with Unselected Metastatic Esophagogastric Cancer Resistant to Trastuzumab.

Journal Of Personalized Medicine
Zecchetto, Camilla C; Quinzii, Alberto A; Casalino, Simona S; Gaule, Marina M; Pesoni, Camilla C; Merz, Valeria V; Pietrobono, Silvia S; Mangiameli, Domenico D; Pasquato, Martina M; Milleri, Stefano S; Giacopuzzi, Simone S; Bencivenga, Maria M; Tomezzoli, Anna A; de Manzoni, Giovanni G; Melisi, Davide D
Publication Date: 2023-03-11

Variant appearance in text: APC: 3920T>A; I1307K
PubMed Link: 36983691
Variant Present in the following documents:
  • jpm-13-00508.pdf
View BVdb publication page



Adherence to NCCN Genetic Testing Guidelines in Pancreatic Cancer and Impact on Treatment.

The Oncologist
Crowley, Fionnuala F; Gandhi, Sonal S; Rudshteyn, Michelle M; Sehmbhi, Mantej M; Cohen, Deirdre J DJ
Publication Date: 2023-03-18

Variant appearance in text: APC: I1307K
PubMed Link: 36933202
Variant Present in the following documents:
  • Main text
  • oyad044.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: APC: 3920T>A; I1307K; rs1801155
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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: APC: 3920T>A; Ile1307Lys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Guideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer.

Breast Cancer (Dove Medical Press)
Abdel-Razeq, Hikmat H; Abujamous, Lama L; Al-Azzam, Khansa K; Abu-Fares, Hala H; Bani Hani, Hira H; Alkyam, Mais M; Sharaf, Baha' B; Elemian, Shatha S; Tamimi, Faris F; Abuhijla, Fawzi F; Edaily, Sarah S; Salama, Osama O; Abdulelah, Hazem H; Daoud, Rand R; Abubaker, Mohammad M; Al-Atary, Areej A
Publication Date: 2023

Variant appearance in text: APC: 3920T>A
PubMed Link: 36660366
Variant Present in the following documents:
  • Main text
  • bctt-15-1.pdf
View BVdb publication page



Clinical features and long-term outcomes of patients with colonic oligopolyposis of unknown etiology.

World Journal Of Gastroenterology
Feldman, Dan D; Rodgers-Fouche, Linda L; Hicks, Stephanie S; Chung, Daniel C DC
Publication Date: 2022-12-28

Variant appearance in text: APC: I1307K
PubMed Link: 36632322
Variant Present in the following documents:
  • WJG-28-6950.pdf
View BVdb publication page



Integrated clinical and genomic analysis identifies driver events and molecular evolution of colitis-associated cancers.

Nature Communications
Chatila, Walid K WK; Walch, Henry H; Hechtman, Jaclyn F JF; Moyer, Sydney M SM; Sgambati, Valeria V; Faleck, David M DM; Srivastava, Amitabh A; Tang, Laura L; Benhamida, Jamal J; Ismailgeci, Dorina D; Campos, Carl C; Wu, Fan F; Chang, Qing Q; Vakiani, Efsevia E; de Stanchina, Elisa E; Weiser, Martin R MR; Widmar, Maria M; Yantiss, Rhonda K RK; Shah, Manish A MA; Bass, Adam J AJ; Stadler, Zsofia K ZK; Katz, Lior H LH; Mellinghoff, Ingo K IK; Sethi, Nilay S NS; Schultz, Nikolaus N; Ganesh, Karuna K; Kelsen, David D; Yaeger, Rona R
Publication Date: 2023-01-07

Variant appearance in text: APC: 3920T>A; Ile1307Lys
PubMed Link: 36611031
Variant Present in the following documents:
  • Main text
  • 41467_2022_35592_MOESM1_ESM.pdf
  • 41467_2022_35592_MOESM2_ESM.pdf
  • 41467_2022_Article_35592.pdf
View BVdb publication page



Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations.

Npj Precision Oncology
Mandelker, Diana D; Marra, Antonio A; Mehta, Nikita N; Selenica, Pier P; Yelskaya, Zarina Z; Yang, Ciyu C; Somar, Joshua J; Mehine, Miika M; Misyura, Maksym M; Basturk, Olca O; Latham, Alicia A; Carlo, Maria M; Walsh, Michael M; Stadler, Zsofia K ZK; Offit, Kenneth K; Bandlamudi, Chaitanya C; Hameed, Meera M; Chi, Ping P; Reis-Filho, Jorge S JS; Ceyhan-Birsoy, Ozge O
Publication Date: 2023-01-02

Variant appearance in text: APC: Ile1307Lys
PubMed Link: 36593350
Variant Present in the following documents:
  • Main text
  • 41698_2022_Article_342.pdf
View BVdb publication page



Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.

Molecular Genetics & Genomic Medicine
Abdel-Razeq, Hikmat H; Al-Azzam, Khansa K; Elemian, Shatha S; Abu-Fares, Hala H; Abu Sheikha, Areej A; Bani Hani, Hira H; Bater, Rayan R; Sharaf, Baha' B; Heald, Brandie B; Esplin, Edward D ED; Nielsen, Sarah M SM; Alkyam, Mais M; Abujamous, Lama L; Al-Attary, Areej A
Publication Date: 2022-12-19

Variant appearance in text: APC: 3920T>A; Ile1307Lys
PubMed Link: 36537080
Variant Present in the following documents:
  • Main text
  • MGG3-11-e2125.pdf
View BVdb publication page



Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.

Frontiers In Oncology
Andrikopoulou, Angeliki A; Zografos, Eleni E; Apostolidou, Kleoniki K; Kyriazoglou, Anastasios A; Papatheodoridi, Alksistis-Maria AM; Kaparelou, Maria M; Koutsoukos, Konstantinos K; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F
Publication Date: 2022

Variant appearance in text: APC: 3920T>A; Ile1307Lys; rs1801155
PubMed Link: 36531003
Variant Present in the following documents:
  • Main text
  • fonc-12-1030786.pdf
View BVdb publication page



Ashkenazi Jewish and Other White APC I1307K Carriers Are at Higher Risk for Multiple Cancers.

Cancers
Forkosh, Esther E; Bergel, Michael M; Hatchell, Kathryn E KE; Nielsen, Sarah M SM; Heald, Brandie B; Benson, Ariel A AA; Friedman, Eitan E; Esplin, Edward D ED; Katz, Lior H LH
Publication Date: 2022-11-29

Variant appearance in text: APC: I1307K
PubMed Link: 36497357
Variant Present in the following documents:
  • Main text
  • cancers-14-05875.pdf
View BVdb publication page



Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Cell
Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D
Publication Date: 2022-11-22

Variant appearance in text: APC: I1307K; rs1801155
PubMed Link: 36455558
Variant Present in the following documents:
  • NIHMS1852590-supplement-MMC2.xlsx, sheet 6
View BVdb publication page



Targeting the FGF/FGFR axis and its co-alteration allies.

Esmo Open
Uehara, Y Y; Ikeda, S S; Kim, K H KH; Lim, H J HJ; Adashek, J J JJ; Persha, H E HE; Okamura, R R; Lee, S S; Sicklick, J K JK; Kato, S S; Kurzrock, R R
Publication Date: 2022-11-28

Variant appearance in text: APC: I1307K
PubMed Link: 36455506
Variant Present in the following documents:
  • mmc1.pdf
  • main.pdf
View BVdb publication page



NBN pathogenic germline variants are associated with pan-cancer susceptibility and in vitro DNA damage response defects.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Belhadj, Sami S; Khurram, Aliya A; Bandlamudi, Chaitanya C; Palou-Márquez, Guillermo G; Ravichandran, Vignesh V; Steinsnyder, Zoe Z; Wildman, Temima T; Catchings, Amanda A; Kemel, Yelena Y; Mukherjee, Semanti S; Fesko, Benjamin B; Arora, Kanika K; Mehine, Miika M; Dandiker, Sita S; Izhar, Aalin A; Petrini, John J; Domchek, Susan S; Nathanson, Katherine L KL; Brower, Jamie J; Couch, Fergus F; Stadler, Zsofia Z; Robson, Mark M; Walsh, Michael M; Vijai, Joseph J; Berger, Michael M; Supek, Fran F; Karam, Rachid R; Topka, Sabine S; Offit, Kenneth K
Publication Date: 2022-11-08

Variant appearance in text: APC: I1307K
PubMed Link: 36346689
Variant Present in the following documents:
  • ccr-22-1703_supplementary_tables_s1-s11_suppts1-ts11.xlsx, sheet 5
View BVdb publication page



Biomedical named entity recognition with the combined feature attention and fully-shared multi-task learning.

Bmc Bioinformatics
Zhang, Zhiyu Z; Chen, Arbee L P ALP
Publication Date: 2022-11-03

Variant appearance in text: APC: I1307K
PubMed Link: 36329384
Variant Present in the following documents:
  • Main text
  • 12859_2022_Article_4994.pdf
View BVdb publication page



InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer
Publication Date: 2022-10

Variant appearance in text: APC: I1307K
PubMed Link: 36260238
Variant Present in the following documents:
  • 10689_2022_Article_312.pdf
View BVdb publication page



Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology
Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W
Publication Date: 2022

Variant appearance in text: APC: 3920T>A; I1307K
PubMed Link: 36238300
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine
Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W
Publication Date: 2022-09-19

Variant appearance in text: APC: 3920T>A; I1307K
PubMed Link: 36123678
Variant Present in the following documents:
  • 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.

Blood Advances
Saygin, Caner C; Roloff, Gregory W GW; Hahn, Christopher N CN; Chhetri, Rakchha R; Gill, Saar I SI; Elmariah, Hany H; Talati, Chetasi C; Nunley, Emma E; Gao, Guimin G; Kim, Aelin A; Bishop, Michael R MR; Kosuri, Satyajit S; Das, Soma S; Singhal, Deepak D; Venugopal, Parvathy P; Homan, Claire Christine CC; Brown, Anna L AL; Scott, Hamish S HS; Hiwase, Devendra K DK; Godley, Lucy A LA
Publication Date: 2022-08-24

Variant appearance in text: APC: I1307K
PubMed Link: 36001442
Variant Present in the following documents:
  • BLOODA_ADV-2022-008172-mmc1.pdf
View BVdb publication page



Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.

Genome Medicine
Ceyhan-Birsoy, Ozge O; Jayakumaran, Gowtham G; Kemel, Yelena Y; Misyura, Maksym M; Aypar, Umut U; Jairam, Sowmya S; Yang, Ciyu C; Li, Yirong Y; Mehta, Nikita N; Maio, Anna A; Arnold, Angela A; Salo-Mullen, Erin E; Sheehan, Margaret M; Syed, Aijazuddin A; Walsh, Michael M; Carlo, Maria M; Robson, Mark M; Offit, Kenneth K; Ladanyi, Marc M; Reis-Filho, Jorge S JS; Stadler, Zsofia K ZK; Zhang, Liying L; Latham, Alicia A; Zehir, Ahmet A; Mandelker, Diana D
Publication Date: 2022-08-15

Variant appearance in text: APC: Ile1307Lys
PubMed Link: 35971132
Variant Present in the following documents:
  • 13073_2022_1101_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Molecular characterization of colorectal cancer patients

Biomedica : Revista Del Instituto Nacional De Salud
Afanador, Carlos Humberto CH; Palacio, Katherine Andrea KA; Isaza, Luis Fernando LF; Ahumada, Enoc E; Ocampo, Carlos Mauricio CM; Muñetón, Carlos Mario CM
Publication Date: 2022-05-01

Variant appearance in text: APC: I1307K
PubMed Link: 35866738
Variant Present in the following documents:
  • 2590-7379-bio-42-s1-5957.pdf
View BVdb publication page



Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non-Muscle-Invasive Bladder Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Pietzak, Eugene J EJ; Whiting, Karissa K; Srinivasan, Preethi P; Bandlamudi, Chaitanya C; Khurram, Aliya A; Joseph, Vijai V; Walasek, Aleksandra A; Bochner, Emily E; Clinton, Timothy T; Almassi, Nima N; Truong, Hong H; de Jesus Escano, Manuel R MR; Wiseman, Michal M; Mandelker, Diana D; Kemel, Yelena Y; Zhang, Liying L; Walsh, Michael F MF; Cadoo, Karen A KA; Coleman, Jonathan A JA; Al-Ahmadie, Hikmat H; Rosenberg, Jonathan E JE; Iyer, Gopakumar V GV; Solit, David B DB; Ostrovnaya, Irina I; Offit, Kenneth K; Robson, Mark E ME; Stadler, Zsofia K ZK; Berger, Michael F MF; Bajorin, Dean F DF; Carlo, Maria M; Bochner, Bernard H BH
Publication Date: 2022-10-03

Variant appearance in text: APC: 3920T>A; I1307K
PubMed Link: 35833951
Variant Present in the following documents:
  • Main text
  • 4267.pdf
View BVdb publication page



Genomic and microenvironmental landscape of stage I follicular lymphoma, compared with stage III/IV.

Blood Advances
Los-de Vries, G Tjitske GT; Stevens, Wendy B C WBC; van Dijk, Erik E; Langois-Jacques, Carole C; Clear, Andrew J AJ; Stathi, Phylicia P; Roemer, Margaretha G M MGM; Mendeville, Matias M; Hijmering, Nathalie J NJ; Sander, Birgitta B; Rosenwald, Andreas A; Calaminici, Maria M; Hoster, Eva E; Hiddemann, Wolfgang W; Gaulard, Philippe P; Salles, Gilles G; Horn, Heike H; Klapper, Wolfram W; Xerri, Luc L; Burton, Catherine C; Tooze, Reuben M RM; Smith, Alexandra G AG; Buske, Christian C; Scott, David W DW; Natkunam, Yasodha Y; Advani, Ranjana R; Sehn, Laurie H LH; Raemaekers, John J; Gribben, John J; Kimby, Eva E; Kersten, Marie José MJ; Maucort-Boulch, Delphine D; Ylstra, Bauke B; de Jong, Daphne D
Publication Date: 2022-09-27

Variant appearance in text: APC: 3920T>A; I1307K; rs1801155
PubMed Link: 35816682
Variant Present in the following documents:
  • advancesADV2022008355-suppl2.xlsx, sheet 11
View BVdb publication page



Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors.

Frontiers In Oncology
Mekonnen, Negesse N; Yang, Hobin H; Shin, Young Kee YK
Publication Date: 2022

Variant appearance in text: APC: I1307K
PubMed Link: 35785170
Variant Present in the following documents:
  • Main text
  • fonc-12-880643.pdf
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: APC: I1307K
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Best practices for the interpretation and reporting of clinical whole genome sequencing.

Npj Genomic Medicine
Austin-Tse, Christina A CA; Jobanputra, Vaidehi V; Perry, Denise L DL; Bick, David D; Taft, Ryan J RJ; Venner, Eric E; Gibbs, Richard A RA; Young, Ted T; Barnett, Sarah S; Belmont, John W JW; Boczek, Nicole N; Chowdhury, Shimul S; Ellsworth, Katarzyna A KA; Guha, Saurav S; Kulkarni, Shashikant S; Marcou, Cherisse C; Meng, Linyan L; Murdock, David R DR; Rehman, Atteeq U AU; Spiteri, Elizabeth E; Thomas-Wilson, Amanda A; Kearney, Hutton M HM; Rehm, Heidi L HL; ,
Publication Date: 2022-04-08

Variant appearance in text: APC: 3920T>A; Ile1307Lys
PubMed Link: 35395838
Variant Present in the following documents:
  • 41525_2022_295_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Fanconi Anemia Pathway in Colorectal Cancer: A Novel Opportunity for Diagnosis, Prognosis and Therapy.

Journal Of Personalized Medicine
Parsa, Fatemeh Ghorbani FG; Nobili, Stefania S; Karimpour, Mina M; Aghdaei, Hamid Asadzadeh HA; Nazemalhosseini-Mojarad, Ehsan E; Mini, Enrico E
Publication Date: 2022-03-04

Variant appearance in text: APC: I1307K
PubMed Link: 35330396
Variant Present in the following documents:
  • Main text
  • jpm-12-00396.pdf
View BVdb publication page



Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports
Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2022-03-09

Variant appearance in text: APC: 3920T>A; Ile1307Lys
PubMed Link: 35264596
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_7383.pdf
  • 41598_2022_7383_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition.

Cancer Medicine
Kamihara, Junne J; Zhou, Jing J; LaDuca, Holly H; Wassner, Ari J AJ; Dalton, Emily E; Garber, Judy E JE; Black, Mary Helen MH
Publication Date: 2022-04

Variant appearance in text: APC: I1307K
PubMed Link: 35174967
Variant Present in the following documents:
  • Main text
  • CAM4-11-1745.pdf
View BVdb publication page



Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.

Hgg Advances
Loke, Johnny J; Alim, Ishraq I; Yam, Sarah S; Klugman, Susan S; Xia, Li C LC; Gruber, Dorota D; Tegay, David D; LaBella, Andrea A; Onel, Kenan K; Ostrer, Harry H
Publication Date: 2022-04-14

Variant appearance in text: APC: 3920T>A
PubMed Link: 35146455
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
  • mmc3.xlsx, sheet 1
View BVdb publication page



The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Frontiers In Oncology
Andrikopoulou, Angeliki A; Chatzinikolaou, Spyridoula S; Kyriopoulos, Ilias I; Bletsa, Garyfalia G; Kaparelou, Maria M; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F
Publication Date: 2021

Variant appearance in text: APC: 3920T>A; Ile1307Lys; rs1801155
PubMed Link: 35127508
Variant Present in the following documents:
  • Main text
  • fonc-11-797505.pdf
View BVdb publication page



Five-year absolute risk estimates of colorectal cancer based on CCRAT model and polygenic risk scores: A validation study using the Quebec population-based cohort CARTaGENE.

Preventive Medicine Reports
Jantzen, Rodolphe R; Payette, Yves Y; de Malliard, Thibault T; Labbé, Catherine C; Noisel, Nolwenn N; Broët, Philippe P
Publication Date: 2022-02

Variant appearance in text: rs1801155
PubMed Link: 35127357
Variant Present in the following documents:
  • Main text
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: APC: I1307K; rs1801155
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12
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Impact of bacterial infection and intestinal microbiome on colorectal cancer development.

Chinese Medical Journal
Sun, Jun J
Publication Date: 2022-01-27

Variant appearance in text: APC: I1307K
PubMed Link: 35089888
Variant Present in the following documents:
  • cm9-135-400.pdf
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The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: APC: I1307K
PubMed Link: 34986841
Variant Present in the following documents:
  • Main text
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The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: APC: I1307K
PubMed Link: 34986841
Variant Present in the following documents:
  • Main text
View BVdb publication page