Genetic Counseling

Is It Time to Reconsider Testing Adolescents for Familial BRCA Mutations?

Parents with inherited cancer mutations often wonder when to disclose results to their children and what affect it will have on them. A recent study examined the impact of a family history of breast cancer or a familial BRCA1/2 mutation on girls aged 11 to 19 years.1 The study included [ Read More ]

Risk and Management Updates for Inherited Colorectal Cancer

Advances in technology and decreased testing costs have led to a rise in the number of genes associated with inherited cancer risk for which testing is clinically available. At the same time, national practice guidelines have been revised to reflect the changes in expanded test offerings. One disease site that [ Read More ]

Increased Risk for Serous/Serous-like Endometrial Cancer Found in BRCA1 Carriers

Both BRCA1 and BRCA2 mutations have been shown to confer an increased risk for ovarian, fallopian tube, and primary perineal cancer. As a result, guidelines recommend bilateral salpingo-oophorectomy (BSO) upon completion of child bearing and preferably between ages 35 and 40 years as a risk-reducing option.1 However, what has been [ Read More ]

Inherited Ovarian Cancer: What Have We Learned?

Compared with other cancers, ovarian cancer is relatively rare, accounting for just 1.3% of all new cancer cases in the United States. However, it has a high death rate—the highest of any female reproductive system cancer. Only around 1 in 7 women with ovarian cancer are diagnosed at the local [ Read More ]

“Newer” Ovarian Cancer Genes and Option of Risk-Reducing Salpingo-Oophorectomy

The ability to analyze multiple genes at the same time has led to the estimate that 20% to 25% of women with ovarian cancer have an inherited mutation in a cancer-predisposing gene.1 Although this association has been noted for a while, until recently there were not enough data available to [ Read More ]

RECQL and Breast Cancer Risk

The number of genes associated with breast cancer risk continues to increase. Recently, through whole exome sequencing, 2 groups of researchers have demonstrated that mutations in RECQL increase the risk of breast cancer.1 The first paper, by Cybulski and colleagues, was published online in Nature Genetics in April 2015, and [ Read More ]

The Evolving Phenotype of Li-Fraumeni Syndrome

In the past few years, some of the classic phenotypes and associated cancer risk estimates of inherited cancer syndromes have been questioned. This is due partly to increased access to genetic testing as well as to the availability of next-generation sequencing (NGS) panels for inherited cancer. Such panels allow researchers [ Read More ]

Inherited Prostate Cancer

Prostate cancer is the most common nondermatologic cancer in males in the United States. Incidence and mortality rates vary significantly between countries. In the United States, the lifetime risk of developing prostate cancer is approximately 1 in 7, with an incidence similar to that of breast cancer. In 2015, it [ Read More ]

Inherited Colorectal Cancer: POLE and POLD1

The association of POLE and POLD1 with colorectal cancer risk was demonstrated in 2013. Palles and colleagues studied families with a dominant pattern of inherited colorectal cancer and multiple adenomas through whole genome sequencing.1 Through these efforts, they identified germline mutations in POLE and POLD1 as high-penetrance genes predisposing to [ Read More ]

New Data Suggest Clinicians Should Consider Genetic Counseling and BRCA1/2 Testing for Any Patient with Pancreatic Adenocarcinoma

Pancreatic cancer represents 3% of new cancer cases each year, with the average age of diagnosis being 71 years.1 The most common type of pancreatic cancer is pancreatic ductal adenocarcinoma (PDAC), which originates from exocrine cells. Although pancreatic cancer accounts for a small percentage of cancers each year, its survival [ Read More ]

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