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A Novel Splice Variant (c.438T>A) of APC, Suspected by Family History and Confirmed by RNA Sequencing
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Dear Editor, Constitutional variants of the tumor suppressor gene adenomatous polyposis coli (APC) cause familial adenomatous polyposis (FAP), an autosomal dominant disorder characterized by numerous adenomatous colorectal polyps [1]. We detected a novel synonymous splice variant of APC in a family with FAP by next generation sequencing (NGS) and confirmed its impact on splicing by RNA sequencing.
Abstract
Dear Editor, Constitutional variants of the tumor suppressor gene adenomatous polyposis coli (APC) cause familial adenomatous polyposis (FAP), an autosomal dominant disorder characterized by numerous adenomatous colorectal polyps [1]. We detected a novel synonymous splice variant of APC in a family with FAP by next generation sequencing (NGS) and confirmed its impact on splicing by RNA sequencing.
참고문헌 (7)
- Powell SM, "Molecular diagnosis of familial adenomatous polyposis", N Engl J Med, 329, pp.1982~1987 (1993)
- Yurgelun MB, "Identification of a variety of mutations in cancer predisposition genes in patients with suspected Lynch syndrome", Gastroenterology, 149, pp.604~613.e20 (2015)
- Richards S, "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
- Nielsen M, "Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis", Clin Genet, 71, pp.427~433 (2007)
- Aretz S, "Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene", Hum Mutat, 24, pp.370~380 (2004)
- Anna A, "Splicing mutations in human genetic disorders:examples, detection, and confirmation", J Appl Genet, 59, pp.253~268 (2018)
- Vears DF, "Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms", Eur J Hum Genet, 26, pp.1743~1751 (2018)
관련 논문AI추천
Identification of a Novel Splice Variant (c.423-8A>G) of APC by RNA SequencingAram Kim, Hyun-Ki Kim, Jeong-Sik Byeon, Sail Chun, Seok-Byung Lim, Sunyoung Ahn, Won-Ki Min, Woochang Lee, Yong Sang Hong대한진단검사의학회 · Annals of Laboratory Medicine2020 · 제40권 제4호A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases박효진, 윤상진, 장재훈거트앤리버 소화기연관학회협의회 · Gut and Liver2013 · 제7권 제1호A Novel Germline Mutation in Exon 10 of the SMAD4 Gene in a Familial Juvenile Polyposis김의중, 김종원, 박선미, 성노현, 윤세진, 윤순만, 지명진, 채희복, 최현종, 한정호거트앤리버 소화기연관학회협의회 · Gut and Liver2013 · 제7권 제6호RNA Sequencing Provides Evidence for Pathogenicity of a Novel CHEK2 Splice Variant (C.1009-7T>G)이재련, 전사일, Gu Hyunjung, Hong Jinyoung, Lee Woochang, Min Won-Ki, Na Rae대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제3호Specific Mutations in APC, with Prognostic Implications in Metastatic Colorectal CancerDaoyun Zhang, Hao Lu, Huan Peng, Jia Zang, Jieyi Li, Jun Ying, Pengmin Yang, Xiaokai Zhao, Xintao Wang, Zhiguo Wang, Ziying Gong대한암학회 · Cancer Research and Treatment2023 · 제55권 제4호Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome강고은, 고봉민, 김종원, 이유민, 장명선, 홍용희대한진단검사의학회 · Annals of Laboratory Medicine2017 · 제37권 제5호
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