APC c.3920_3924del ;(p.I1307Rfs*6)

Variant ID: 5-112175207-GAAATA-G

NM_000038.5(APC):c.3920_3924del;(p.I1307Rfs*6)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Clinicopathological Characteristics and Mutational Landscape of APC, HOXB13, and KRAS among Rwandan Patients with Colorectal Cancer.

Current Issues In Molecular Biology
Manirakiza, Felix F; Rutaganda, Eric E; Yamada, Hidetaka H; Iwashita, Yuji Y; Rugwizangoga, Belson B; Seminega, Benoit B; Dusabejambo, Vincent V; Ntakirutimana, Gervais G; Ruhangaza, Deogratias D; Uwineza, Annette A; Shinmura, Kazuya K; Sugimura, Haruhiko H
Publication Date: 2023-05-16

Variant appearance in text: APC: 3920_3924delTAAAA; Ile1307Argfs*6
PubMed Link: 37232746
Variant Present in the following documents:
  • cimb-45-00277.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: 3920_3924del; Ile1307fs
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: APC: 3920_3924delTAAAA
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Cronkhite-Canada syndrome: from clinical features to treatment.

Gastroenterology Report
Wu, Ze-Yu ZY; Sang, Li-Xuan LX; Chang, Bing B
Publication Date: 2020-10

Variant appearance in text: APC: Ile1307fsX6
PubMed Link: 33163187
Variant Present in the following documents:
  • Main text
  • goaa058.pdf
View BVdb publication page



Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC, BRAF, and KTM2D.

Thyroid : Official Journal Of The American Thyroid Association
Nieminen, Taina T TT; Walker, Christopher J CJ; Olkinuora, Alisa A; Genutis, Luke K LK; O'Malley, Margaret M; Wakely, Paul E PE; LaGuardia, Lisa L; Koskenvuo, Laura L; Arola, Johanna J; Lepistö, Anna H AH; Brock, Pamela P; Yilmaz, Ayse Selen AS; Eisfeld, Ann-Kathrin AK; Church, James M JM; Peltomäki, Päivi P; de la Chapelle, Albert A
Publication Date: 2020-03

Variant appearance in text: APC: 3920_3924delTAAAA; Ile1307Argfs
PubMed Link: 32024448
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam.

Bmc Medical Genetics
Giang, Hoa H; Nguyen, Vu T VT; Nguyen, Sinh D SD; Nguyen, Huu-Phuc HP; Vo, Binh T BT; Nguyen, Truc M TM; Nguyen, Nguyen H NH; Truong, Kiet D KD; Do, Thanh-Thuy T TT; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN
Publication Date: 2018-10-19

Variant appearance in text: APC: 3920_3924delTAAAA
PubMed Link: 30340471
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_701.pdf
View BVdb publication page



Hotspot KRAS exon 2 mutations in CD166 positive colorectal cancer and colorectal adenoma cells.

Oncotarget
Wong, Hung Lai HL; Ng, Lawrence Po Wah LPW; Koh, Su Pin SP; Chan, Lawrence Wing Chi LWC; Wong, Evelyn Yin Kwan EYK; Xue, Vivian Weiwen VW; Tsang, Hin Fung Andy HFA; Chan, Amanda Kit Ching AKC; Chiu, Ka Yue KY; Cheuk, Wah W; Wong, Sze Chuen Cesar SCC
Publication Date: 2018-04-17

Variant appearance in text: APC: 3920_3924delTAAAA; I1307fs*6
PubMed Link: 29755662
Variant Present in the following documents:
View BVdb publication page



Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.

Bmc Medical Genetics
Nilbert, Mef M; Kristoffersson, Ulf U; Ericsson, Mats M; Johannsson, Oskar O; Rambech, Eva E; Mangell, Peter P
Publication Date: 2008-11-26

Variant appearance in text: N/A
PubMed Link: 19036155
Variant Present in the following documents:
View BVdb publication page