The tumor spectrum in the Lynch syndrome.
ABSTRACT Colorectal and endometrial cancer are the characteristic tumors of the Lynch syndrome. We reviewed the available evidence on the occurrence of other types of cancer in the syndrome, aiming to identify those types that can be included in the tumor spectrum, based on this evidence. We chose to define the tumor spectrum as comprising the cancers for which Lynch syndrome patients are at elevated risk. We found sufficiently strong and consistent evidence to include gastric cancer, small bowel cancer, hepatobiliary tract cancer, upper urologic tract cancer, ovarian cancer, and brain tumors in this spectrum, in addition to colorectal and endometrial cancer. We predict that the spectrum will expand as additional studies are reported, especially as prospective studies of mutation carriers are completed.
Article: Screening for gynecological cancers[Show abstract] [Hide abstract]
ABSTRACT: An estimated 17% of all new cancers in women worldwide are due to cancers of the cervix, the ovary and the uterus. Together, these cancers account for 14.6% of all female cancer deaths. This is a significant societal and economic burden, which can be limited through cancer screening. In the developed world, marked reductions of 50–90% in disease rates have been observed as a result of cervical cancer screening. By contrast, in developing countries, where more than 85% of all new cases and deaths from this cancer are reported, significant challenges need to be overcome. Although cytology remains a key component of cervical screening, the newer molecular tests offer a more targeted, risk-attuned approach. The situation for the other two gynecological cancers is different. The case for ovarian cancer screening has yet to be made with the results of key screening trials in high- and low-risk populations still pending. Screening for endometrial cancer is traditionally not advocated as women become symptomatic during the earlier, treatable stages of disease. However, consideration of screening options for these two cancers is warranted since endometrial cancer rates are on the increase and in ovarian cancer, the high case:fatality ratio remains unchanged.Expert Review of Obstetrics & Gynecology 01/2014; 8(2).
- [Show abstract] [Hide abstract]
ABSTRACT: Introdução: A Síndroma de Lynch (SL) confere um risco elevado para carcinoma do cólon e recto, mas também para outros tumores. Não é consensual se o carcinoma gástrico (CG) deve ser incluído no seu espectro, sobretudo em países com incidência elevada para esta neoplasia.Jornal Português de Gastrenterologia. 04/2008; 15(2):56-62.
- [Show abstract] [Hide abstract]
ABSTRACT: Recently, BRAF mutation testing has been introduced as a marker in differentiating Lynch syndrome from sporadic colorectal cancers or in predicting colorectal cancers with worse prognosis. Individuals with hereditary predisposition to cancer development are at an increased risk of developing multiple primary cancers. The purpose of this study is to identify mutation in the BRAF gene in multiple primary cancers with colorectal cancer and stomach cancer. BRAF mutation was analysed in 45 patients with colorectal cancer and stomach cancer, synchronously or metachronously. Mean age was 64.07 years (range: 47-83 years). For the colorectal cancer, tumors were located at the sigmoid colon in eight patients (17.8%) and at the rectum in 22 patients (48.9%). Twenty-three patients (51.1%) had synchronous cancer. Four patients (8.9%) had family members with cancer. BRAF mutation was identified in three patients (6.7%). All three of these patients had metachronous cancers. The colorectal cancers were located in the sigmoid colon (1 patient) and the rectum (2 patients). BRAF mutation rate was low in the multiple primary cancer with colorectal cancer and stomach cancer. With only BRAF gene study, it was not possible to identify any correlation with family history of colorectal cancer. Further study means considering other genes - MSI, MSH2, MLH1, MSH6.Gastroenterology report. 07/2013; 1(1):70-4.