High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics
Abstract Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by germline variants in the APC gene, leading to the development of numerous colorectal polyps and significantly increases the risk of colorectal cancer. A diagnosis is typically made using colonoscopy, and geneti...
Saved in:
| Main Authors: | Hiroki Tanabe, Yasuyuki Koshizuka, Kazuyuki Tanaka, Kenji Takahashi, Masami Ijiri, Keitaro Takahashi, Katsuyoshi Ando, Nobuhiro Ueno, Shin Kashima, Takeo Sarashina, Kentaro Moriichi, Kenrokuro Mitsube, Yusuke Mizukami, Mikihiro Fujiya, Yoshio Makita |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2024-12-01
|
| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00301-z |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability
by: Hiroki Tanabe, et al.
Published: (2024-03-01) -
Comparison of traction vs. snare as rescue methods for challenging colorectal endoscopic submucosal dissection: Propensity score-matched study
by: Keitaro Takahashi, et al.
Published: (2025-01-01) -
Ferrichrome identified from induces apoptosis through its iron-binding site in gastric cancer cells
by: Masami Ijiri, et al.
Published: (2017-06-01) -
The butyrate derived from probiotic Clostridium butyricum exhibits an inhibitory effect on multiple myeloma through cell death induction
by: Hiroaki Konishi, et al.
Published: (2025-04-01) -
Probiotic-Derived Polyphosphate Accelerates Intestinal Epithelia Wound Healing through Inducing Platelet-Derived Mediators
by: Shotaro Isozaki, et al.
Published: (2021-01-01)