The main goal at a High-Risk Gastrointestinal Cancer Clinic is to identify individuals at increased risk of developing tumors for diagnosis them in presymptomatic stages, when they are potentially curable. We report an asymptomatic patient belonging to a family with hereditary diffuse gastric cancer syndrome with a novel pathogenic mutation in the E-cadherin gene. In the absence of any proven d...

Background Women with hereditary breast and ovarian cancer (HBOC) have an estimated 15-65% lifetime risk of ovarian cancer; similarly, women with Lynch syndrome have a 40-60% lifetime risk of endometrial cancer and a 10-12% lifetime risk of ovarian cancer. The aim of this study was to investigate the impact of genetic testing on risk-reducing behavior for gynecologic malignancies in women being...

Approximately 5% of all endometrial cancers are due to a hereditary disposition, and a majority of the cases were found in families with Lynch syndrome or hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Whilst both men and women with Lynch syndrome have a significantly increased risk of developing colorectal cancer (18-69%), women face the additional lifetime risks of developing en...

Microsatellite instability implying multiple replication errors (RER+ phenotype) characterizes a proportion of colorectal carcinomas, particularly those from patients with the hereditary non-polyposis colorectal carcinoma syndrome. We studied the incidence of microsatellite instability in more than 500 sporadic tumors representing 6 different types of cancer. Apart from colorectal carcinoma [se...

Background . Breast cancer (BC) is the most common female malignancy worldwide. partner and localizer of BRCA2 gene ( PALB2 ) directly involved in DNA damage response. germline mutation has been identified breast familial pancreatic cases, accounting for approximately 1–2% 3–4%, respectively. goal this report was to describe new a young Yakut patient with family history cancer. Material methods...

FH: Fumarate hydratase HLRCC: Hereditary leiomyomatosis and renal cell cancer INTRODUCTION Hereditary leiomyomatosis and renal cell cancer (HLRCC), also known as familial leiomyomatosis cutis et uteri or Reed syndrome, is a rare autosomal dominant disorder that manifests primarily as skin and uterine leiomyomas, usually at earlier ages than in the general population. Renal cell carcinoma also d...

HNPCC (Lynch syndrome) is the most common form of hereditary colorectal cancer (CRC), wherein it accounts for between 2-7 percent of the total CRC burden. When considering the large number of extracolonic cancers integral to the syndrome, namely carcinoma of the endometrium, ovary, stomach, hepatobiliary system, pancreas, small bowel, brain tumors, and upper uroepithelial tract, these estimates...

Hereditary nonpolyposis colorectal cancer is an autosomal dominant condition caused by highly penetrant gene mutations. It is characterized by increased susceptibility for a specific group of cancer, mainly colorectal cancer. The syndrome originates from the inheritance of mutations in DNA mismatch repair genes. The most commonly affected genes in hereditary nonpolyposis colorectal cancer are h...

Breast cancer (BC) is not a typical manifestation of Lynch syndrome. The existence and extent excessive breast risk in carriers pathogenic mutations the syndrome-associated genes (MLH1, MSH2, MSH6, PMS2) remains an open question. In addition, it known that some neoplasms patients with this syndrome are causally linked to hereditary mutation, arise completely independently defect gene DNA mismat...