air jordans canada goose outlet legend blue 11s jordan retro 7 beats by dre cheap Michael Kors outlet jordan 7 canada goose outlet jordan retro 7 jordan retro 7 legend blue 11s canada goose jordan retro 7 canada goose outlet nike retro jordans coach factory retro jordans nike legend blue 11s beats by dre cheap louis vuitton outlet louis vuitton outlet louis vuitton outlet beats by dre cheap beats by dre cheap uggs outlet louis vuitton outlet jordan retro 12 uggs outlet jordan retro 12 louis vuitton louis vuitton sac nike air max jordan retro 12 jordan 12 moncler jackets louis vuitton sac nike free run moncler jackets jordan 7 retro jordans retro jordans jordan retro 7 canada goose outlet legend blue 11s jordan 7 jordan retro 7 canada goose canada goose outlet jordan retro 7 jordan retro 7 nike legend blue 11s Michael Kors outlet jordan retro 7 legend blue 11s air jordans canada goose outlet coach outlet moncler jackets coach outlet jordan retro 12 jordan retro 12 louis vuitton sac louis vuitton outlet louis vuitton sac beats by dre cheap jordan 12 nike free run nike air max louis vuitton louis vuitton sac beats by dre cheap moncler jackets sac louis vuitton nike air max moncler jackets louis vuitton outlet jordan retro 12 canada goose outlet retro jordans Michael Kors outlet legend blue 11s canada goose outlet coach outlet coach factory canada goose outlet retro jordans Michael Kors outlet jordan retro 7 legend blue 11s canada goose outlet canada goose outlet beats by dre cheap canada goose outlet canada goose legend blue 11s retro jordans canada goose outlet moncler jackets nike free run nike air max moncler jackets nike air max nike air max uggs outlet beats by dre cheap uggs coach outlet nike free run louis vuitton outlet nike free run uggs outlet jordan retro 12 louis vuitton sac louis vuitton sac beats by dre cheap moncler jackets nike air max canada goose outlet nike jordan retro 7 jordan retro 7 canada goose outlet canada goose outlet nike jordan retro 7 legend blue 11s Michael Kors outlet coach factory Michael Kors outlet canada goose outlet legend blue 11s air jordans nike Michael Kors outlet Michael Kors outlet jordan retro 11 legend blue 11s beats by dre cheap louis vuitton outlet sac louis vuitton louis vuitton outlet uggs nike air max louis vuitton sac nike air max beats by dre cheap beats by dre cheap nike air max jordan 12 nike air max moncler jackets nike free run coach outlet coach outlet moncler jackets jordan retro 12 coach outlet Michael Kors outlet Michael Kors outlet legend blue 11s Michael Kors outlet canada goose outlet nike coach outlet Michael Kors outlet canada goose jordan retro 7 canada goose nike retro jordans canada goose outlet beats by dre cheap canada goose outlet retro jordans Michael Kors outlet legend blue 11s Michael Kors outlet jordan retro 12 nike free run moncler jackets nike free run louis vuitton sac jordan retro 12 moncler jackets louis vuitton sac louis vuitton louis vuitton outlet coach outlet uggs outlet moncler jackets louis vuitton louis vuitton outlet nike free run coach outlet louis vuitton outlet jordan retro 12 moncler jackets jordan 4 jordan 4 jordan retro 11 jordan 11 jordan retro 11 louis vuitton outlet michael kors outlet air jordan 11 canada goose sale uggs on sale jordan retro 11 louis vuitton pas cher jordan 4 jordan retro 7 jordan 11 louis vuitton outlet jordan retro 11 louis vuitton outlet jordan 11 louis vuitton outlet canada goose outlet french blue 7s jordan retro 4 uggs on sale louis vuitton jordan retro 11 louis vuitton outlet jordan retro 11 air jordans jordan 13 canada goose outlet jordan 11 canada goose sale canada goose outlet jordan 11 legend blue michael kors outlet jordan 7 french blue jordan 7 french blue jordan 11 legend blue 11s air jordan 4 jordan retro 11 french blue 7s michael kors outlet jordan 11 louis vuitton outlet uggs outlet michael kors outlet jordan 11 jordan 4 air jordans jordan retro 11 louis vuitton outlet louis vuitton jordan 11 jordan retro 11 jordan retro 11 louis vuitton outlet michael kors outlet jordan retro 11 uggs on sale red cements 10s louis vuitton outlet jordan 11 air jordans jordan retro 11 michael kors outlet michael kors outlet french blue 7s louis vuitton outlet jordan retro 11 jordan 11 canada goose outlet jordan 4 oreo michael kors outlet michael kors outlet jordan 11 jordan retro 4 jordan retro 11 michael kors outlet
Home > Learn > Breast and Ovarian Cancer > Genetic Testing in People of Ashkenazi Jewish Descent
Untitled Document

 

 

beats by dre cheap coach outlet canada goose canada goose outlet legend blue 11s legend blue 11s legend blue 11s beats by dre cheap jordan retro 7 legend blue 11s jordan retro 7 Michael Kors outlet nike nike jordan retro 7 jordan retro 7 Michael Kors outlet legend blue 11s canada goose outlet retro jordans beats by dre cheap louis vuitton outlet louis vuitton outlet nike free run jordan retro 12 coach outlet louis vuitton sac sac louis vuitton louis vuitton sac moncler jackets jordan retro 12 moncler jackets beats by dre cheap moncler jackets jordan retro 12 moncler jackets louis vuitton sac louis vuitton outlet moncler jackets beats by dre cheap jordan retro 7 Michael Kors outlet beats by dre cheap jordan retro 7 jordan retro 7 canada goose outlet canada goose outlet canada goose Michael Kors outlet beats by dre cheap jordan retro 7 retro jordans nike Michael Kors outlet canada goose outlet legend blue 11s Michael Kors outlet canada goose outlet nike beats by dre cheap beats by dre cheap jordan retro 12 coach outlet louis vuitton outlet jordan retro 12 louis vuitton outlet louis vuitton outlet jordan retro 12 nike air max jordan retro 12 beats by dre cheap coach outlet louis vuitton sac coach outlet jordan retro 12 nike free run moncler jackets moncler jackets nike air max jordan retro 12 canada goose outlet air jordans jordan 7 canada goose outlet jordan retro 7 canada goose outlet jordan retro 7 Michael Kors outlet nike canada goose outlet canada goose outlet Michael Kors outlet nike coach outlet jordan retro 7 canada goose outlet retro jordans jordan retro 7 retro jordans Michael Kors outlet beats by dre cheap jordan retro 12 louis vuitton outlet louis vuitton outlet beats by dre cheap uggs outlet beats by dre cheap louis vuitton sac nike air max jordan retro 12 louis vuitton outlet beats by dre cheap nike air max jordan retro 12 moncler jackets moncler jackets moncler jackets louis vuitton sac jordan retro 12 uggs outlet coach outlet jordan retro 7 jordan retro 7 canada goose outlet Michael Kors outlet Michael Kors outlet jordan retro 7 coach outlet jordan retro 7 nike nike Michael Kors outlet jordan retro 7 canada goose Michael Kors outlet jordan 7 canada goose outlet coach factory Michael Kors outlet Michael Kors outlet louis vuitton outlet louis vuitton outlet jordan 12 moncler jackets louis vuitton outlet jordan retro 12 louis vuitton outlet jordan retro 12 louis vuitton outlet coach outlet jordan retro 12 coach outlet beats by dre cheap nike air max jordan retro 12 nike free run sac louis vuitton jordan retro 12 moncler jackets louis vuitton outlet Michael Kors outlet legend blue 11s canada goose canada goose outlet Michael Kors outlet Michael Kors outlet nike coach outlet Michael Kors outlet jordan retro 7 canada goose outlet beats by dre coach outlet legend blue 11s Michael Kors outlet jordan retro 7 nike nike Michael Kors outlet legend blue 11s louis vuitton sac louis vuitton outlet louis vuitton sac nike free run uggs uggs jordan 12 moncler jackets beats by dre cheap nike free run louis vuitton outlet beats by dre cheap beats by dre cheap jordan retro 12 jordan 12 uggs outlet jordan retro 12 louis vuitton outlet beats by dre cheap louis vuitton sac jordan 11 legend blue michael kors outlet louis vuitton outlet oreo 4s jordan retro 11 uggs outlet louis vuitton outlet louis vuitton outlet michael kors outlet jordan 11 michael kors outlet air jordan 4 jordan retro 11 oreo 4s jordan 11 uggs outlet michael kors outlet jordan 11 jordan retro 11 jordan retro 7 louis vuitton outlet jordan 11 canada goose sale michael kors outlet michael kors outlet jordan retro 4 jordan retro 4 jordan 11 louis vuitton outlet legend blue 11s legend blue 11s louis vuitton outlet jordan 7 french blue air jordans jordan 4 michael kors outlet louis vuitton french blue 7s legend blue 11s jordan 11 legend blue jordan retro 11 michael kors outlet jordan 11 louis vuitton outlet air jordan 4 jordan 11 jordan retro 11 michael kors outlet jordan retro 4 jordan 11 louis vuitton outlet jordan 7 french blue jordan 4 jordan retro 11 jordan retro 11 jordan 11 louis vuitton outlet louis vuitton outlet michael kors outlet jordan 11 legend blue jordan retro 4 jordan retro 11 french blue 7s michael kors outlet jordan 11 jordan 11 jordan retro 11 jordan retro 4 jordan 11 canada goose sale michael kors outlet retro jordans louis vuitton outlet jordan 11 jordan retro 7 canada goose outlet michael kors outlet louis vuitton outlet michael kors outlet legend blue 11s
Breast and Ovarian Cancer
  The Testing Process in the Ashkenazi Jewish Population

By Kathleen Fergus, MS, CGC and Jill Simonsen

Reviewed by Beth Crawford, MS, CGC and Miriam Komaromy, MD


 

Genetic testing can be like looking for a needle in a haystack, especially in the case of breast and ovarian cancer, where scientists are dealing with two extremely large genes (BRCA1 and BRCA2) and hundreds of possible mutations. However, for people of Ashkenazi Jewish descent genetic testing is somewhat simplified. This is because scientists know that 90 percent of the time, an Ashkeanzi Jewish family with a pattern of hereditary breast and ovarian cancer will have one of three specific mutations. This has made it possible to develop a test that looks only for the presence or absence of these three specific mutations, rather than the hundreds that can be associated with these types of cancer in other populations.

 
 
 

The Test

Three specific mutations in the BRCA1 and BRCA2 genes account for most of the cases of hereditary breat and/or ovarian cancer in the Ashkenazi Jewish population.
The test, called multisite analysis, looks exclusively for the three mutations in the BRCA1 and BRCA2 genes (185delAG* and 5382insC* in BRCA1, and 6174delT in BRCA2) that are thought to account for the majority of inherited breast and ovarian cancer in people of Ashkenazi Jewish descent. If there is a mutation that is responsible for the cancer in an Ashkenazi Jewish family, approximately 90 percent of the time it will be one of these three mutations. Because this type of test only examines the precise locations on the BRCA1 and BRCA2 genes where these three mutations are known to occur, it is quick and inexpensive compared to DNA sequencing, which examines a much larger region of both genes.

Multisite analysis is only recommended for people of Ashkenazi Jewish descent because it only detects the three mutations that have been linked to breast and ovarian cancer in Ashkenazi Jewish families. For other populations, this test would narrow the search for mutations in BRCA1 and BRCA2 prematurely because there are hundreds of mutations that could be associated with their breast and/or ovarian cancer history.

top

 

Interpreting the Results

Multisite testing will yield either a positive result or a negative result, which can be interpreted as follows:

  • Positive. If multisite analysis reveals one of the mutations it's designed to detect, this is referred to as a positive result. The person being tested has inherited one of the three mutations known to be associated with hereditary breast and ovarian cancer in individuals of Ashkenazi Jewish descent and is thus at increased risk for these diseases.

  • Negative. If multisite analysis fails to reveal one of the three mutations it's designed to detect, this is referred to as a negative result. However it does not rule out the less likely possibility that this person could have a mutation somewhere else on the BRCA1 or BRCA2 gene. (Remember: these three mutations only account for approximately 90 percent of all hereditary breast and ovarian cancer in the Ashkenazi Jewish population.)

top

 

Limitations of Multisite Analysis

A negative test result does NOT mean that you are free of a mutation or increased cancer risk. It only means that you don't have one of three specific mutations.
Although multisite analysis detects the three mutations that account for the majority of inherited breast and ovarian cancers in people of Ashkenazi Jewish descent, it does not detect any of the hundreds of other mutations that have been associated with these types of hereditary cancer in the broader population. This means that a woman who tests negative via multisite analysis cannot absolutely assume she's free of a mutation or the increased cancer risk a mutation would confer. She simply knows that she doesn't have one of the mutations that are most likely to be associated with these types of cancer in people of similar ancestry. For this reason, some individuals who test negative for a mutation in this type of test opt to undergo more comprehensive DNA sequencing.

Multisite Testing One Family's Experience

Multisite Testing One Family's Experience Marion is a 45-year-old woman of Ashkenazi Jewish descent who was diagnosed with breast cancer a year ago and is currently undergoing treatment with chemotherapy. Marion has two daughters, ages 11 and 13. Although Marion is eager to know whether there's a genetic basis for her cancer, she's worried about getting an ambiguous result that will only increase her anxiety about her daughters' risk. Marion's mother is alive, well, and cancer-free at age 68. However, her father was diagnosed with prostate cancer at age 71, though he, too, is currently alive and doing well. His sister, Marion's paternal aunt, was diagnosed with breast cancer at age 67 and died two years later of metastatic breast cancer. Marion has numerous other aunts, uncles, and cousins, all of whom are in good health and cancer-free.

The Decision

Because her personal history and ethnicity make one of the three BRCA1 or BRCA2 mutations detected in Ashkenazi Jewish women the most likely genetic culprit for her cancer, Marion discusses her options with her doctor and a genetic counselor and decides to pursue testing via multisite analysis. An additional benefit to this testing approach is that there is no chance of getting an ambiguous result. Marion will either have one of these mutations or she won't.

  • If Marion tests positive for a mutation, she'll have an explanation for her family's cancer and can alert other adult relatives of their increased risk as well as their options for testing. She will also know that her daughters have a 50 percent chance of inheriting the altered gene and the cancer risk that goes with it. If, on the other hand, Marion tests negative, she will know that she hasn't inherited one of the three mutations.

The Result

Marion tests negative for the mutations. Although she realizes that a negative result does not explain her breast cancer or lower her risk for other cancers, she's glad she decided to have multisite analysis. Her test result reduces the likelihood that there is a BRCA mutation in her family, but does not entirely rule it out.

Since she was only interested in finding out whether she had one of the mutations most commonly associated with individuals of Ashkenazi Jewish descent, she now feels that she has closure regarding her family history and has decided not to pursue other testing at this time. Marion will need to discuss with her genetic counselor and doctor whether or not to pursue ovarian cancer screening, now that she has tested negative.


Notes: *A recent change in numbering of the individual bases of the BRCA1 and BRCA2 genes has resulted in a change in the naming of certain mutations; thus the mutations commonly referred to as 185delAG and 5382insC should technically be referred to as 187delAG and 5385insC, respectively.

top

 

References

Beller, U. D. et al. (1997). High frequency of BRCA1 and BRCA2 germline mutations in Ashkenazi Jewish ovarian cancer patients, regardless of family history [see comments]. Gynecol Oncol 67(2): 123-6.

Biesecker, B. B. and Brody, L.C. (1997). Genetic susceptibility testing for breast and ovarian cancer: a progress report. J Am Med Womens Assoc 52(1): 22-7.

Myriad (2000). Multisite analysis of three founder mutations in Ashkenazi population accounts for 90% of inherited mutations in this population. K.Fergus. San Francisco, Myriad.

Phillips, K. A. et al. (2000). Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2. Clin Genet 57(5): 376-83.

Roa, B.B. et al. (1996). Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 14:188-90.

Shattuck-Eidens, D. et al. (1997). BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA 278(15): 1242-50.

Strewing, J.P. et al (1995) The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 11:198-200.

<<Previous Article
Main Topic Page
Next Article>>
Genetic Testing for Breast and Ovarian Cancer

 

Untitled Document

©Copyright 2011 Latest Medical, Inc.. All Rights Reserved.
Contact Us

coach factory coach outlet canada goose outlet Michael Kors outlet legend blue 11s legend blue 11s coach outlet legend blue 11s jordan retro 7 Michael Kors outlet canada goose outlet nike jordan retro 7 jordan retro 7 Michael Kors outlet canada goose outlet canada goose outlet retro jordans Michael Kors outlet coach factory louis vuitton outlet nike free run beats by dre cheap nike air max moncler jackets sac louis vuitton sac louis vuitton louis vuitton sac louis vuitton outlet moncler jackets jordan retro 12 moncler jackets beats by dre cheap jordan retro 12 jordan retro 12 louis vuitton louis vuitton sac moncler jackets beats by dre cheap jordan retro 12 canada goose outlet canada goose nike Michael Kors outlet canada goose canada goose outlet beats by dre air jordans retro jordans legend blue 11s Michael Kors outlet canada goose canada goose outlet jordan retro 7 legend blue 11s Michael Kors outlet Michael Kors outlet legend blue 11s beats by dre cheap jordan retro 7 louis vuitton outlet moncler jackets louis vuitton outlet jordan retro 12 jordan retro 12 louis vuitton outlet nike air max nike free run coach outlet nike free run moncler jackets beats by dre cheap moncler jackets louis vuitton sac beats by dre cheap louis vuitton sac coach outlet louis vuitton outlet beats by dre cheap coach outlet canada goose outlet jordan retro 7 beats by dre cheap canada goose outlet beats by dre legend blue 11s Michael Kors outlet retro jordans Michael Kors outlet jordan retro 7 jordan retro 7 coach factory jordan retro 7 Michael Kors outlet Michael Kors outlet coach outlet canada goose retro jordans canada goose outlet beats by dre cheap moncler jackets moncler jackets sac louis vuitton beats by dre cheap jordan retro 12 louis vuitton outlet moncler jackets louis vuitton sac beats by dre cheap beats by dre cheap moncler jackets louis vuitton nike free run louis vuitton sac louis vuitton outlet louis vuitton sac jordan retro 12 moncler jackets moncler jackets uggs outlet legend blue 11s Michael Kors outlet Michael Kors outlet canada goose outlet jordan retro 7 legend blue 11s Michael Kors outlet beats by dre jordan retro 7 Michael Kors outlet retro jordans retro jordans nike canada goose outlet retro jordans canada goose outlet coach factory retro jordans coach outlet air jordans moncler jackets moncler jackets beats by dre cheap louis vuitton outlet louis vuitton outlet louis vuitton sac beats by dre cheap nike air max jordan retro 12 louis vuitton outlet nike free run jordan retro 12 jordan retro 12 moncler jackets moncler jackets jordan retro 12 jordan retro 12 moncler jackets sac louis vuitton moncler jackets coach factory jordan retro 7 canada goose outlet retro jordans canada goose outlet coach factory canada goose beats by dre cheap canada goose retro jordans nike air jordans retro jordans retro jordans jordan 7 canada goose outlet legend blue 11s retro jordans jordan retro 7 coach outlet jordan retro 12 louis vuitton outlet nike air max moncler jackets louis vuitton sac beats by dre cheap coach outlet nike air max moncler jackets moncler jackets moncler jackets moncler jackets moncler jackets jordan retro 12 uggs moncler jackets louis vuitton outlet jordan retro 12 jordan retro 12 louis vuitton sac jordan retro 4 michael kors outlet jordan retro 11 jordan 11 jordan 11 uggs outlet louis vuitton outlet jordan 11 louis vuitton outlet red cements 10s air jordan 4 jordan retro 11 uggs outlet french blue 7s louis vuitton outlet jordan 11 legend blue jordan 4 jordan retro 11 jordan 10 red cements michael kors outlet jordan 13 michael kors outlet air jordans jordan 11 jordan retro 7 jordan 11 jordan retro 4 louis vuitton outlet jordan 4 jordan retro 11 legend blue 11s jordan retro 11 air jordan 11 air jordans jordan 4 michael kors outlet louis vuitton outlet french blue 7s louis vuitton outlet louis vuitton outlet louis vuitton outlet air jordans retro jordans french blue 7s uggs on sale michael kors outlet michael kors outlet jordan retro 11 canada goose uggs on sale jordan 11 jordan 11 louis vuitton outlet french blue 7s jordan 4 uggs outlet air jordan 4 jordan 10 red cements jordan 4 jordan 11 legend blue legend blue 11s louis vuitton outlet uggs outlet michael kors outlet michael kors outlet jordan retro 11 michael kors outlet jordan 7 french blue air jordans louis vuitton outlet jordan 11 michael kors outlet jordan 11 jordan 7 french blue michael kors outlet jordan retro 4 jordan retro 4 jordan retro 11 michael kors outlet jordan retro 11