MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years

scientific article published on 02 May 2019

MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years is …
instance of (P31):
scholarly articleQ13442814
case reportQ2782326

External links are
P356DOI10.1186/S12881-019-0792-0
P932PMC publication ID6498505
P698PubMed publication ID31046708

P50authorKenji GondaQ87791441
Shigehira SajiQ88034326
P2093author name stringShoichiro Horita
Kenju Shimomura
Yuko Maejima
Fumiaki Watanabe
Tadashi Nomizu
Koji Kono
Kokichi Sugano
Tomoyuki Momma
Rei Yashima
Daisuke Ujiie
Eisei Endo
Shotaro Fujita
Yoshinori Akama
P2860cites workRelative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplificationQ24530153
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instabilityQ24618618
hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindredsQ28246692
Mutation of hMSH3 and hMSH6 mismatch repair genes in genetically unstable human colorectal and gastric carcinomasQ28256733
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).Q36746989
Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines.Q40962229
Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutationsQ42037545
Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC)Q48075190
Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United StatesQ51688306
Natural history of colorectal cancer in hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II).Q54747453
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.Q55033068
Hereditary nonpolyposis colorectal cancer (lynch syndromes I and II). II. Biomarker studiesQ62772424
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)Q62978412
Screening for hereditary non-polyposis colorectal cancer: A study of 22 kindreds in The NetherlandsQ62978425
Extracolonic cancer in hereditary nonpolyposis colorectal cancerQ70557907
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectLynch syndromeQ783644
P304page(s)67
P577publication date2019-05-02
P1433published inBMC Medical GeneticsQ15759918
P1476titleMLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years
P478volume20