Barriers of Hereditary Gynecological Cancer in Indonesia

ABSTRACT

Lynch syndrome (LS) is an autosomal dominant inherited disease caused by a germline mutation

in mismatch repair genes, also known as hereditary nonpolyposis colorectal cancer (HNPCC)

syndrome. At the genetic level, it’s caused by a defective mismatch repair (MMR) system

because of the presence of germline defects. In 1990 the International Collaborative Group on

Hereditary Nonpolyposis Colorectal Cancer established Amsterdam I criteria (3-2-1 mnemonic)

for HNPCC. The Revised Bethesda Guideline was developed to include evaluation of MSI

and/or IHC to better identify individuals who deserve genetic testing to investigate for LS.

Barriers to implementation of a hereditary cancer identification process in a developing nation,

there is a disparity in skills and knowledge among the health care providers regarding the

availability of modern scientific tools, and recognition of the benefits of genetic testing for

gynecological cancers. A forty-two years old woman with a chief complaint of recurrent

abnormal uterine bleeding and changes in bowel habit. She had a family history of colorectal

cancer, breast cancer, and ovarian cancer. Ultrasonography (USG) and office hysteroscopy (OH)

was done and tissue was sent for histopathology study. Diagnosis of HNPCC with suspected

Lynch Syndrome was used according to Amsterdam II criteria. Surgery was planned with

planned laparoscopic hysterectomy with bilateral salphingo-oophorectomy. Genetic testing was

planned for the diagnosis of Lynch syndrome, but refusal was met. Indonesian Society of

Gynecologic Oncology (INASGO) is planning to make a national hereditary gynecology cancer

management guideline in Indonesia.