In 2010, FORCE: Facing Our Risk of Cancer Empowered successfully spearheaded passage of a congressional resolution declaring the first-ever National Hereditary Breast and Ovarian Cancer week.
Cristi Radford, MS, CGC, and Michele Gabree, MS, CGC, explain what variants of uncertain significance are, and address some of the questions that are frequently asked by providers.
Similar to other disease sites, prostate cancer has seen a surge in genetic testing options. To help address the role of genetic testing in prostate cancer disease management, the NCCN Clinical Practice Guidelines in Oncology were updated in February 2018 to include germline recommendations.
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 the ages of 35 and 40 years as a risk-reducing option. However, what has been less clear is the association of uterine cancer with BRCA. The data have been conflicting: some studies have suggested a slight increased risk, but others have not. Therefore, hysterectomy has not been included in national medical management guidelines.
What do you get when you combine the terms predisposition and survivor? The term previvor. A previvor is an individual who has not had cancer but is at increased risk due to a gene mutation or family history. He or she is a survivor of a predisposition to cancer.
Teresa is a 45-year-old female recently diagnosed with lobular breast cancer. She has 1 brother, aged 42 years, and 3 children, a 14-yearold son, a 12-year-old daughter, and a 10-year-old daughter. Her father is 65 years of age and has 2 sisters, aged 55 and 62, both of whom have children, and none are reported to have cancer. Her paternal grandparents died in their 80s, and the stated cause was “old age.” Teresa’s mother was reported to have had breast cancer in her late 40s and died from an “abdominal cancer” in her 50s. She had zero siblings. Read More ›
Sarah is a 59-year-old female referred by her OB/GYN provider for genetic counseling and cancer risk assessment. She has never had a diagnosis of cancer, colonic polyps, or benign tumors. Additionally, she has never undergone any risk-reducing surgeries, and no family members have undergone genetic testing. When making her appointment, she expresses concern about her risk of pancreatic cancer because 2 of her brothers died of it (per medical records adenocarcinoma of the pancreas). What else would you want to know?
Fear of genetic discrimination is often a stated barrier to referral to genetic counseling services and to willingness to undergo genetic testing.1,2 As a result, when the Genetic Information Nondiscrimination Act (GINA) was signed almost 4 years ago by President George W. Bush, many felt that this would be the panacea for individuals concerned about discrimination. GINA was the first federal legislation providing protections against genetic discrimination by health insurers and employers. Read More ›
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You may or may not have heard the name Kathleen Maxian, but it is likely you have encountered women like her in your practice without knowing it. Kathleen has been featured in several news stories lately, including in the New York Times and on CNN. Her sister, Eileen Kelly, was diagnosed with breast cancer at age 40 and underwent testing for BRCA1 and BRCA2 (BRCA1/2) gene mutations. She was found to be negative. Two years later, Kathleen was diagnosed with ovarian cancer. Read More ›
Lynch syndrome, also called hereditary nonpolyposis colorectal cancer (HNPCC), is the most common cause of hereditary endometrial cancer. It accounts for at least 2% to 3% of all endometrial cancer cases and 9% to 10% of endometrial cancer cases in women diagnosed younger than 50 years of age.1-3 Women with Lynch syndrome have a high lifetime risk for colorectal (30%- 52%)4 and endometrial (20%-71%)5 cancer. Read More ›
Multiple professional and societal guidelines emphasize the importance of genetic counseling and testing for individuals at risk for hereditary breast cancer.1,2 For a woman newly diagnosed with breast cancer, information gained from genetic counseling and testing can directly impact her surgical management and treatment plan. Of the syndromes known to have an elevated risk of breast cancer, hereditary breast and ovarian cancer (HBOC) is the most common. HBOC is associated with mutations in the BRCA1 and BRCA2 genes. Read More ›
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