Friday, November 23, 2007

Genetic Screening For Breast and Ovarian Cancer

Mutations in BRCA1 and BRCA2 genes are the most common causes of genetic predisposition to breast and ovarian cancer. A screening test is available , but who should be tested and what can be done if you test positive?

The US Preventive Services Task Force recommends BRCA testing for women in the following groups.

For Ashkenazis, a woman who has:
  • Any first degree relative (siblings, parents, daughters/sons) with breast or ovarian cancer
  • Two second degree relatives (grandparents, grandchildren, aunts/uncles, nieces/nephews, half-siblings) with breast or ovarian cancer

For Non-Ashkenazi, a woman who has:

  • Two first degree relatives with breast cancer
  • Three or more first- or second- degree relatives with breast cancer
  • Both breast cancer and ovarian cancer among first- and second- degree relatives
  • A first degree relative with bilateral breast cancer
  • Two or more first- or second- degree relatives with ovarian cancer
  • A male relative with breast cancer

Women with no family history of either breast or ovarian cancer are not recommended to be tested.

If BRCA1 mutation is detected, there is a 57% chance of developing breast cancer and a 40% chance of developing ovarian cancer before the age of 70. If BRCA2 mutation is detected, then there is a 49% and 18% chance of developing the respective malignancies.

According to the American Cancer Society guidelines, women who test positive for BRCA mutation should consider breast and gynecological exams every 6 months. Annual MRI of breasts which have a sensitivity of 75% for detection of breast cancer are recommended starting at age 30. A mammogram is not recommended before age 35 due to concern that ionizing radiation may induce malignant changes in BRCA carriers. The combination of MRI, mammogram, and breast ultrasound increases the sensitivity of detection to 95%.

Although it may be a difficult decision, surgical options should be considered for more definitive cancer risk reduction. A bilateral mastectomy (breast removal) reduces the risk of breast cancer by 90%. A bilateral salpingo-oopherectomy (ovary and tube removal ) reduces the risk of ovarian cancer by 80% and breast cancer is reduced by 50%.

References: The Medical Letter, Vol 49, Issue 1274, November 19, 2007. Also see above links.


Anonymous said...

All women should definitely be regularly checking for signs of breast cancer, or any form of cancer. These days it's hard not to get cancer from anything, but with all these new revelations and studies coming out, now more than ever we should be taking care of ourselves so we can be there to take care of our own in the long run. Early detection is the key prevention ladies! I lost my father to cancer, so I know all too well the consequences of not getting regular checkups, now I am just trying to raise awareness and let you all know about this cause that I firmly believe in.

I am a community ambassador with Pantene Beautiful Lengths and Million Inch Chain, and together we are trying to gather 1 million inches of hair to give to women that are affected by cancer and suffer from chemo related hairloss. For a lot of women that have to go through this, it can very much be damaging to their self esteem.

That's why we are trying to give back these women the confidence they may have lost so that they can fight this disease and bounce back stronger than ever. I am asking if all of you out there could help out this cause by donating, or pledging to donate your hair. If you would like more information on how you can help then please visit this site for more information
Spread the word, and let it be known!

Unknown said...

سلام خانم دکتر .
من از دوست های پدرتون هستم در ایران.
میخواستم بدونید که ما یه وجود یک ایرانی در همچین مرکز مهمی افتخار میکنیم و برایتان آرزوی سلامتی داریم.
خوش باشید
معروف خانی