gene mutation and subsequent risk of breast and/or ovarian cancer

As Rachel’s healthcare provider, I would respect her decision and not seek out Kristin. Instead, I would make sure she understands the risks that her sisters have of possessing this gene mutation and subsequent risk of breast and/or ovarian cancer. I would suggest to Rachel that she inform Lisa and urge Lisa to contact Kristin since they are no longer in contact with each other. Patient confidentiality is more than a federal law and a matter of moral respect, it is one of the pillars of medicine and is vital to ensure continued rapport and trust between the provider and patient.

Breast cancer was once the leading cause of cancer related deaths amongst women until it was surpassed by lung cancer (McCance &Huether, 2014). Breast cancer develops due to a mutation on chromosome 17 known as BRCA1. BRCA2 is located on chromosome 13. Both are tumor-suppressor genes, which serve to prevent mutations and negatively regulate cell growth, however, if inactivated or mutated (such as with point mutations), these genes can actually promote cell division and cause cancer (McCance &Huether, 2014). “Women who inherit a mutation in BRCA1 or BRCA2 experience a 50% to 80% lifetime risk of developing breast cancer. BRCA1 mutations also increase the risk of ovarian cancer among women (20% to 50% lifetime risk), and they confer a modestly increased risk of prostate and colon cancers” (McCance &Huether, 2014, p. 174). Rachel posses the autosomal dominant form of the breast cancer gene as evidenced by the presence of a mutated BRCA1 gene. Tumors initiating in epithelial cells that line tissues and organs are often termed adenocarcinomas. Adenocarcinomas of the breast start in the milk ducts or the milk-producing glands known as lobules (American Cancer Society, 2018). “The exact molecular events leading to invasion are complex and not completely understood” (McCance &Huether, 2014, p. 870).

Options for those that have a positive test for BRCA1 or BRCA2 mutation include the following: surveillance for early cancer detection, prophylactic surgery (i.e., bilateral salpingo-oophorectomy), risk factor avoidance and education, and chemoprevention (McCance &Huether, 2014). BRCA1 and BRCA2 work in the various stages of DNA damage response and DNA repair as tumor suppressor genes, and both serve to protect the genome from DNA damage during DNA replication (McCance &Huether, 2014). If a mutation in BRCA1 or BRCA2 is present, the person is roughly five times more likely to develop breast cancer than a person without the mutation, however, not all those that have the mutation will develop breast or ovarian cancers (McCance &Huether, 2014). 

The risk of developing breast cancer rises with age, with 1 person in 202 people affected between birth and 39 years of age, 1 in 26 from age 40-59, and 1 in 28 for those aged 60-69 (Shah, Rosso, & Nathanson, 2014). A familial history of breast cancer is also a risk factor, as well as a personal history. Women that have a first-degree relative affected by breast cancer are at a doubled risk of also developing it and that risk further increases if that relative was diagnosed early in life, as in Rachel’s case (McCance &Huether, 2014). Proliferative breast disease, such as atypical hyperplasia, is another risk factor for developing breast cancer. “Atypical hyperplasia including both ductal and lobular, usually incidentally found on screening mammography, confers a substantial increased risk of breast cancer. Women with atypia have an approximately 4.3 times greater risk of developing cancer compared to the general population” (Shah et al., 2014, p. 2). The risk for developing breast cancer is increased in nulliparous women and women who reach menarch at an earlier age (Shah et al., 2014). Women who go through menopause later in life are also at risk. In addition to risk factors, “high levels of circulating testosterone in postmenopausal women have been linked to increased risk of developing breast cancer” (Shah et al., 2014, p. 4). Protective effects for the development of breast cancer are women that have a child at a younger age and those that breastfeed (with a 4.3% reduction per one year of breastfeeding) (Shah et al., 2014). Accounting for 21% of all deaths related to breast cancer are modifiable risk factors of alcohol use, obesity, and physical inactivity (Shah et al., 2014). The strongest risk factor for men developing breast cancer are those with Klinefelter syndrome. Germline mutations in BRCA1 or BRCA2 is also a risk factor, but BRCA2 rather than BRCA1 mutations are usually seen in familial cases. (McCance &Huether, 2014) 
Interventions aimed at preventive health management towards men and women include education related to safely stopping the use of alcohol, initiating a physical activity routine, and weight management through the use of diet and exercise. Patients need also be encouraged to inquire about their familial history, specifically breast cancer, and undergo screening if at an increased risk. “The 2013 NCCN guidelines recommend annual clinical breast examination (CBE) for women of average risk > 40 years of age as well as breast self-examinations to develop and exhibit breast self-awareness” (Shah et al., 2014, p. 7). Additional screening tools utilized in diagnosis include MRI, ultrasound, and mammography

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