Limits...
Ovarian Cancer and BRCA1/2 Testing: Opportunities to Improve Clinical Care and Disease Prevention.

Karakasis K, Burnier JV, Bowering V, Oza AM, Lheureux S - Front Oncol (2016)

Bottom Line: Given the targeted treatment opportunities with PARP inhibitors, a predictive role for BRCA1/2 mutation has emerged.Despite recommendations to provide BRCA1/2 testing to all women with histologically confirmed HGSOC, uniform implementation remains challenging.In addition, BRCA1/2 testing may have direct implications for patients with other types of cancers, many of which are now being found to have BRCA1/2 involvement.

View Article: PubMed Central - PubMed

Affiliation: Drug Development Program, Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University of Toronto , Toronto, ON , Canada.

ABSTRACT
Without prevention or screening options available, ovarian cancer is the most lethal malignancy of the female reproductive tract. High-grade serous ovarian cancer (HGSOC) is the most common histologic subtype, and the role of germline BRCA1/2 mutation in predisposition and prognosis is established. Given the targeted treatment opportunities with PARP inhibitors, a predictive role for BRCA1/2 mutation has emerged. Despite recommendations to provide BRCA1/2 testing to all women with histologically confirmed HGSOC, uniform implementation remains challenging. The opportunity to review and revise genetic screening and testing practices will identify opportunities, where universal adoption of BRCA1/2 mutation testing will impact and improve treatment of women with ovarian cancer. Improving education and awareness of genetic testing for women with cancer, as well as the broader general community, will help focus much-needed attention on opportunities to advance prevention and screening programs in ovarian cancer. This is imperative not only for women with cancer and those at risk of developing cancer but also for their first-degree relatives. In addition, BRCA1/2 testing may have direct implications for patients with other types of cancers, many of which are now being found to have BRCA1/2 involvement.

No MeSH data available.


Related in: MedlinePlus

Location of common and founder BRCA1 mutations by country. Schematic of common and founder mutations by country modified from Janavičius (71) and Ramus and Gayther (72). Relative risk data taken from Rebbeck et al. (73).
© Copyright Policy
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4862980&req=5

Figure 3: Location of common and founder BRCA1 mutations by country. Schematic of common and founder mutations by country modified from Janavičius (71) and Ramus and Gayther (72). Relative risk data taken from Rebbeck et al. (73).

Mentions: Worldwide, variation in the distribution of BRCA1 and BRCA2 mutations is well recognized, and in certain countries and ethnic communities the germline BRCA1/2 mutation spectrum is limited to a few founder mutations (70). However, both the number and frequency of germline BRCA1 and BRCA2 mutations vary among populations (Figures 3 and 4) (71–73). Findings from an international observational study of 19,581 BRCA1 and 11,900 BRCA2 carriers from 55 centers in 33 countries on 6 continents provide strong evidence that breast and ovarian cancer risks vary by type and location of BRCA1/2 mutation (73). As such, much research is moving toward characterizing the functional significance of specific mutations or mutation locations (74, 75).


Ovarian Cancer and BRCA1/2 Testing: Opportunities to Improve Clinical Care and Disease Prevention.

Karakasis K, Burnier JV, Bowering V, Oza AM, Lheureux S - Front Oncol (2016)

Location of common and founder BRCA1 mutations by country. Schematic of common and founder mutations by country modified from Janavičius (71) and Ramus and Gayther (72). Relative risk data taken from Rebbeck et al. (73).
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4862980&req=5

Figure 3: Location of common and founder BRCA1 mutations by country. Schematic of common and founder mutations by country modified from Janavičius (71) and Ramus and Gayther (72). Relative risk data taken from Rebbeck et al. (73).
Mentions: Worldwide, variation in the distribution of BRCA1 and BRCA2 mutations is well recognized, and in certain countries and ethnic communities the germline BRCA1/2 mutation spectrum is limited to a few founder mutations (70). However, both the number and frequency of germline BRCA1 and BRCA2 mutations vary among populations (Figures 3 and 4) (71–73). Findings from an international observational study of 19,581 BRCA1 and 11,900 BRCA2 carriers from 55 centers in 33 countries on 6 continents provide strong evidence that breast and ovarian cancer risks vary by type and location of BRCA1/2 mutation (73). As such, much research is moving toward characterizing the functional significance of specific mutations or mutation locations (74, 75).

Bottom Line: Given the targeted treatment opportunities with PARP inhibitors, a predictive role for BRCA1/2 mutation has emerged.Despite recommendations to provide BRCA1/2 testing to all women with histologically confirmed HGSOC, uniform implementation remains challenging.In addition, BRCA1/2 testing may have direct implications for patients with other types of cancers, many of which are now being found to have BRCA1/2 involvement.

View Article: PubMed Central - PubMed

Affiliation: Drug Development Program, Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University of Toronto , Toronto, ON , Canada.

ABSTRACT
Without prevention or screening options available, ovarian cancer is the most lethal malignancy of the female reproductive tract. High-grade serous ovarian cancer (HGSOC) is the most common histologic subtype, and the role of germline BRCA1/2 mutation in predisposition and prognosis is established. Given the targeted treatment opportunities with PARP inhibitors, a predictive role for BRCA1/2 mutation has emerged. Despite recommendations to provide BRCA1/2 testing to all women with histologically confirmed HGSOC, uniform implementation remains challenging. The opportunity to review and revise genetic screening and testing practices will identify opportunities, where universal adoption of BRCA1/2 mutation testing will impact and improve treatment of women with ovarian cancer. Improving education and awareness of genetic testing for women with cancer, as well as the broader general community, will help focus much-needed attention on opportunities to advance prevention and screening programs in ovarian cancer. This is imperative not only for women with cancer and those at risk of developing cancer but also for their first-degree relatives. In addition, BRCA1/2 testing may have direct implications for patients with other types of cancers, many of which are now being found to have BRCA1/2 involvement.

No MeSH data available.


Related in: MedlinePlus