Breast, Ovarian and Prostate Cancer
A hereditary breast and ovarian cancer syndrome is mostly related to changes in genes BRCA1 and BRCA2. Although more often associated For women, this syndrome can also affect men.
As women With pathogenic variants in these genes have a higher risk of developing breast cancer breast and ovary, compared to the rest of the population. You men with pathogenic variants in the BRCA2 gene have an increased risk of breast and prostate cancer. Both men and women also have a slightly increased risk of developing stomach and pancreatic cancer, among others.
As surveillance and prevention measures are offered depending on the gene identified, according to guidelines international scientific research, and its adoption discussed with each individual. These may include periodic consultations and exams, such as blood tests, mammography, breast MRI and pelvic ultrasound. know more here.
Familial Adenomatous Polyposis of the Colon (FAP-C)
Familial Adenomatous Polyposis of the Colon (FAP-C) is an inherited syndrome caused by pathogenic variants No. gene APC. If appropriate preventive measures are not taken, carriers of these pathogenic variants may 100% chance of developing colon cancer.
This syndrome is characterized by the occurrence of a large number of adenomatous polyps – usually 100 or more – in large intestine (particularly in the colon and rectum), starting in adolescence. These polyps, initially benign, have great potential for malignant transformation, which can give rise to colorectal cancer, if not removed. Colonoscopy is one of the tests used in the surveillance and prevention of this type of cancer, as it allows the detection and removal of polyps.
Digestive System
Image by BRGFX on Freepik (edited)
Lynch syndrome
Lynch syndrome, also called Hereditary Non-Polyposis-Associated Carcinoma of the Colon and Rectum (CCRHNP), is a hereditary disease caused by pathogenic variants in many genes, especially in the MLH1 and MSH2 genes. Individuals with Lynch Syndrome have a 70% chance of developing colon and rectal cancer, usually in young ages. They also present a increased risk of developing other cancers, particularly the endometrium, ovary, stomach, small intestine, urothelium, pancreas and bile ducts.
Surveillance and prevention programs for individuals with Lynch syndrome may include periodic consultations and examinations, including colonoscopy, digestive endoscopy, and vaginal and urinary tract ultrasounds.
Review by Marta Zegre Amorim – Geneticist and member of the EVITA Advisory Board