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“Endometrial Carcinoma”, Victor McKusick, Mendelian Inheritance in Man, 1966. 子宮內膜癌。icd10=C54.1 (MSH3).

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Here I present: “Endometrial Carcinoma”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 子宮內膜癌。icd10=C54.1 (MSH3).

 

INTRODUCTION.

Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus). The most frequent type of endometrial cancer is endometrial carcinoma, which accounts for more than 80% of cases. It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period.  Other symptoms include pain with urination, pain during sexual intercourse, or pelvic pain.  Endometrial carcinoma occurs most commonly after menopause.

 

There is evidence endometrial carcinoma is caused by mutation in the mismatch repair protein-1 (MSH3) gene encoded cytogenetic location 5q14.1 and genomic coordinates 5:80,654,652-80,876,815. The screenshot of the MSH3 gene 222,164 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides MSH3 in the 5q14.1 cytogenetic location are listed BENEATH.

 



 

Coordinate  Symbol  Genomic Name
5:80,320,002  SPZ1 Spermatogenic leucine zipper protein 1
5:80,407,610  ZFYVE16 Zinc finger FYVE domain-containing protein 16
5:80,556,755  ANKRD34B Ankyrin repeat domain-containing protein 34B
5:80,626,226  DHFR Dihydrofolate reductase
5:80,654,652  MSH3 mutS homolog 3
5:80,960,363  RASGRF2 Ras specific guanine nucleotide-releasing factor 2
5:81,233,322  CKMT2 Creatine kinase, mitochondrial-2 (sarcomeric)
5:81,301,587  ZCCHC9 Zinc finger CCHC domain-containing protein 9
5:81,308,609  ACOT12 Acyl-CoA thioesterase 12
5:81,412,804  SSBP2 Single-stranded DNA-binding protein 2

 

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