Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population

Pan, Min; Cong, Peikuan; Wang, Yue; Lin, Changsong; Yuan, Ying; Dong, Jian; Banerjee, Santasree; Zhang, Tao; Chen, Yanling; Zhang, Ting; Chen, Mingqing; Hu, Peter; Zheng, Shu; Zhang, Jin; Qi, Ming

doi:10.1002/humu.21588

Cited by 16 publications

(19 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Furthermore, the substitution, c.4479G>A, at codon 1493 was reported on five occasions; the 2 bp deletion, c.4393_4394delAG, at codon 1465 was reported on four occasions; the nonsense substitution, c.4012C>T, at codon 1338 was reported on four occasions; and the nonsense substitution, c.994C>T, at codon 332 was reported on four occasions. The data suggest that the APC gene may frequently contain polymorphisms at these points in Chinese patients with FAP (37).…”

Section: Mutation Analysis Of the Apc Gene The Leiden Open Variationmentioning

confidence: 88%

“…1), which if left untreated progress into CRC. The majority of FAP cases in China belong to this subtype (34)(35)(36)(37). AFAP is a less severe form of FAP, characterized by the presence of <100 polyps and a later onset of CRC.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

“…php?select_db=APC). A total of 275 of these mutations were reported in China, 194 of which are unique to China (37). The majority of mutations are nonsense mutations or small insertions and deletions, which lead to a truncated APC protein.…”

Section: Mutation Analysis Of the Apc Gene The Leiden Open Variationmentioning

confidence: 99%

“…Mutations causing FAP in China have been reported to occur mainly in three regions of the APC gene: At the 5' end, prior to codon 500; near codon 1309 in the largest exon 16; or at the 3' end, following codon 1580 (37).…”

Section: Mutation Analysis Of the Apc Gene The Leiden Open Variationmentioning

confidence: 99%

“…1). According to the Chinese APC database: The 5 bp deletion, c.3927_3931delAAAGA, at codon 1309 was reported on eight occasions; the nonsense substitution, c.3925G>T, at codon 1309 was reported on two occasions; the 2 bp deletion, c.3182_3183delAA was reported once; the 5 bp deletion, c.3181_3185delAAACA, at codon 1061 was reported once; and the 5 bp deletion, c.3183_3187delACAAA, at codon 1061 was reported on three occasions (37). The aforementioned data indicate that the APC gene is frequently mutated between codons 1309 and 1061 in Chinese families with FAP, which is consistent with Western families (57).…”

Section: Mutation Analysis Of the Apc Gene The Leiden Open Variationmentioning

confidence: 99%

See 4 more Smart Citations

Familial adenomatous polyposis in China

Yang

Liu

et al. 2016

Oncology Letters

Self Cite

View full text Add to dashboard Cite

Abstract. Familial adenomatous polyposis (FAP) is an autosomal dominant disease with a poor prognosis, and has been studied by clinicians and geneticists in China for the past three decades. It is estimated that FAP has an incidence of between 1 in 8,000 and 1 in 10,000 individuals, and accounts for 0.94% of colorectal cancer cases in China. Recent advances in the understanding of FAP suggest that the genotype of the patient may allow for early diagnosis and surveillance, and guide surgical and chemopreventive management. However, the genetic mechanisms of FAP vary between different countries. FAP in China has its own characteristics, and this may be due to ethnic and geographical genetic variation. In the present review the clinical manifestations and genetics of FAP in China are discussed, as well as the surgical strategies, chemotherapeutics and traditional Chinese medicines used in its treatment. Increased insight into the genetic and clinical features of FAP in the Chinese population may aid in the prevention and management of the disorder.

show abstract

Section: Mutation Analysis Of the Apc Gene The Leiden Open Variationmentioning

confidence: 88%

Section: Clinical Manifestationsmentioning

confidence: 99%

Section: Mutation Analysis Of the Apc Gene The Leiden Open Variationmentioning

confidence: 99%

Section: Mutation Analysis Of the Apc Gene The Leiden Open Variationmentioning

confidence: 99%

Section: Mutation Analysis Of the Apc Gene The Leiden Open Variationmentioning

confidence: 99%

See 3 more Smart Citations

Familial adenomatous polyposis in China

Yang

Liu

et al. 2016

Oncology Letters

Self Cite

View full text Add to dashboard Cite

show abstract

Human variome project country nodes: Documenting genetic information within a country

Patrinos

Smith²,

Howard³

et al. 2012

Hum. Mutat.

Self Cite

View full text Add to dashboard Cite

The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. The two main pillars of this effort are gene/disease‐specific databases and a network of Human Variome Project Country Nodes. The latter are nationwide efforts to document the genomic variation reported within a specific population. The development and successful operation of the Human Variome Project Country Nodes are of utmost importance to the success of Human Variome Project's aims and goals because they not only allow the genetic burden of disease to be quantified in different countries, but also provide diagnosticians and researchers access to an up‐to‐date resource that will assist them in their daily clinical practice and biomedical research, respectively. Here, we report the discussions and recommendations that resulted from the inaugural meeting of the International Confederation of Countries Advisory Council, held on 12th December 2011, during the 2011 Human Variome Project Beijing Meeting. We discuss the steps necessary to maximize the impact of the Country Node effort for developing regional and country‐specific clinical genetics resources and summarize a few well‐coordinated genetic data collection initiatives that would serve as paradigms for similar projects. Hum Mutat 33:1513–1519, 2012. © 2012 Wiley Periodicals, Inc.

show abstract

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

Bean

Hegde

2016

Human Mutation

View full text Add to dashboard Cite

Revolutionary changes in sequencing technology and the desire to develop therapeutics for rare diseases have led to the generation of an enormous amount of genomic data in the last five years. Large-scale sequencing done in both research and diagnostic laboratories has linked many new genes to rare diseases, but has also generated a number of variants that we cannot interpret today. It is clear that we remain a long way from a complete understanding of the genomic variation in the human genome and its association with human health and disease. Recent studies identified susceptibility markers to infectious diseases and also the contribution of rare variants to complex diseases in different populations. The sequencing revolution has also led to the creation of a large number of databases that act as “keepers” of data, and in many cases give an interpretation of the effect of the variant. This interpretation is based on reports in the literature, prediction models, and in some cases is accompanied by functional evidence. As we move towards the practice of genomic medicine, and consider its place in “personalized medicine,” it is time to ask ourselves how we can aggregate this wealth of data into a single database for multiple users with different goals.

show abstract

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population

Cited by 16 publications

References 28 publications

Familial adenomatous polyposis in China

Familial adenomatous polyposis in China

Human variome project country nodes: Documenting genetic information within a country

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

Contact Info

Product

Resources

About