Consider, for example, the OraQuick at-home HIV test, an FDA-approved product that the agency acknowledges produces "about one false negative result out of every 12 tests performed in HIV-infected individuals." A person who wrongly relies on the negative HIV result, like the person with an incorrect negative BRCA
result, may be harmed by not seeking appropriate medical care.
Likewise, 12 percent of average women will develop breast cancer, but a BRCA
mutation raises the risk four- to fivefold.
In addition, family history risk-stratification tools are now available and have been developed and validated for use in primary care settings to guide referrals for BRCA
* 3 mutations which make up >90% of BRCA
mutations in Afrikaners--BRCA1 1493delC, BRCA1 2760G>T (p.Glu881X) and BRCA2 8162delG.
Service manager Emma Duncan carries the BRCA
gene and was first diagnosed with cancer in her left breast in 2003 and was then diagnosed with cancer in her right breast two years later.
Yet, PGD is an imperfect technology; it introduces additional uncertainties for BRCA
1/2 gene mutation carriers (Rubin et al., 2011).
"In women who don't have an increased risk [of a BRCA
mutation], the potential harms outweigh the benefits of testing," Mangione said.
Lynparza is a first-in-class PARP inhibitor and the first targeted treatment to potentially exploit DNA damage response pathway deficiencies, such as BRCA
mutations, to preferentially kill cancer cells.
Meindert Boysen, director of the Nice centre for health technology evaluation, said: "The availability of olaparib tablets as maintenance therapy is an important development in the management of BRCA
mutation-positive advanced ovarian cancer.
"The book also explores the options available to BRCA
mutation carriers, including enhanced screening, chemoprevention and risk-reducing surgery, with reference to relevant research.
For instance, a population-based study suggested that breast cancer risk among BRCA
1 or BRCA
2 mutation carriers was much greater for women born after 1958 when compared to those born before that year (7).