Hereditary cancer syndromes are frequently seen in young cancer patients and patients with a positive family history. Genetic testing is important for the identification of high-risk individuals, and for the early introduction of specialized preventive care or prophylactic surgeries. High-risk tumour suppressor genes (BRCA1 and BRCA2) and DNA repair genes (MLH1, MSH2 and MSH6) are responsible f...

objective(s): breast cancer is the most common cancer in women. every year, one million new cases are reported worldwide, representing 18% of the total number of cancer in women. hereditary brca1 and brca2 mutations account for about 60% of inherited breast cancer and are the only known causes of hereditary breast cancer syndrome. the aim of this study was to determine the frequency of brca2 (e...

Colorectal cancer is the second-leading cause of cancer death in the United States. About 25% of patients have a personal or family history that suggests a hereditary colorectal cancer syndrome. This article describes the clinical and pathological characteristics of hereditary colorectal cancer, appropriate screening tests, and when to refer patients to a genetic counselor.

Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes such as, Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancer syndromes. Although the inciden...

Hereditary etiologies of pancreatic and hepatobiliary cancers are increasingly recognized. An estimated >10% of pancreatic and increasing number of hepatobiliary cancers are hereditary. The cumulative risk of hereditary pancreatic cancer ranges from measurable but negligible in cystic fibrosis to a sobering 70% in cases of hereditary pancreatitis. Candidates for pancreatic cancer surveillance a...

U pper urinary tract transitional cell carcinoma (UUTTCC) accounts for 5% of all urothelial carcinomas. Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome predisposing to colorectal cancer that accounts for about 5% of all colorectal cancers. It is revealed by colorectal cancer (63%) or extracolonic cancers, most often of the endometrium (9%) or ovary, but some...

Although hereditary kidney cancer syndrome accounts for approximately five percent of all kidney cancers, the mechanistic insight into tumor development in these rare conditions has provided the foundation for the development of molecular targeting agents currently used for sporadic kidney cancer. In the late 1980s, the comprehensive study for hereditary kidney cancer syndrome was launched in t...

Alias Multiple cutaneous and uterine leiomyomatosis (MCUL) Hereditary leiomyomatosis and renal cell cancer (HLRCC) Note Multiple cutaneous leiomyomatosis (MCUL) is characterized by multiple leiomyomas of the skin and uterus. When associated with renal cell cancer, this syndrome is referred to as hereditary leiomyomatosis and renal cell cancer (HLRCC). Inheritance Autosomal dominant with incompl...

Background: Li-Fraumeni syndrome (LFS) is one of the most serious hereditary cancer syndromes with a high risk of malignancy in childhood. This syndrome is an autosomal dominant cancer predisposing syndrome due to a germline mutation in the TP53 tumor suppressor gene.   Methods: In this study, a representative family case of Li-Fraumeni syndrome is described. The proband of this family ...

HLRCC: hereditary leiomyomatosis and renal cell cancer INTRODUCTION Hereditary leiomyomatosis and renal cell cancer (HLRCC) (formerly known as Reed syndrome, multiple cutaneous and uterine leiomyomatosis, leiomyomatosis cutis et uteri, and multiple leiomyomatosis) is an autosomal dominant syndrome comprising cutaneous leiomyomas, uterine leiomyomas, or renal tumors. The cutaneous leiomyomas of ...