Handbook of Abiogenetic Counseling Ancestral Breast Blight - BRCA1 and BRCA2
18 June 06:04
Ancestral Breast Blight - BRCA1 and BRCA2
*The lifetime adventitious of accepting breast blight in the accepted citizenry of women is about 11-12%.
*The accident is decidedly added in women with a alteration (50-85% for both BRCA1/2)
*The adventitious of accepting a additional breast blight that is not a ceremony is aswell actual top in alteration carriers (40-60% BRCA1).
*The adventitious of accepting ovarian blight is aswell decidedly added from about 1-2% in the accepted citizenry up to about 15-45% in BRCA1 carriers and 10-20% in BRCA 2 carriers
*Males can be alteration carriers aswell and advance breast blight (males that backpack BRCA2 mutations accept about 6% chance, a 100 bend increase)
*Other cancers possibly added accident with BRCA1 alteration (prostate RR=3.3 and colon RR=4.0)
*BRCA2 alteration associated with added prostate, laryngeal and pancreatic blight risks (unknown consequence of added risk)
*BRCA1/BRCA2 testing is offered if the accident is affected to be 10% or higher
*Testing usually begins with an afflicted ancestors affiliate because if they are begin not to accept a alteration then it tells us added advice than if an artless affiliate did not accept a alteration in one of these genes
*If a alteration is begin in that ancestors affiliate than it is beneath big-ticket to analysis artless ancestors associates because they attending for that aforementioned mutation
*Types of testing
**Comprehensive BRACAnalysis
***sequencing of both BRCA1 and BRCA2
***Myriad amount is $2680
**Rapid BRACAnalysis
***same as BRACAnalysis, but after-effects in 7-10 days
***Myriad amount is $3680
**Single website BRACAnalysis
***Single alteration assay for individuals with accepted BRCA1 or BRCA2 mutations in the family
***Myriad amount is $315
**Multisite 3 BRACAnalysis (detects about 83% of mutations in this citizenry 17% are carriers of additional mutations)
***Three alteration assay for Ashkenazi individuals
***Myriad amount is $375
***If a abrogating aftereffect can do abounding sequencing
*3 possibile results
*NEGATIVE --Neither of the two genes accept changes in them. If this were the case it wouldnt aphorism out the suspicion that the ancestors has a ancestral anatomy of breast cancer. However, if there is no story of ovarian blight it ability affluence their apperception because then it could be affected that their accident of ovarian blight is apparently not acceptable to be added aloft the citizenry risk
*VARIANT OF Ambiguous Acceptation --There is a change but we are borderline of what it agency and whether it would advance to an added blight accident (estimated to action about 10% of time)
*POSITIVE --A change is begin in the gene that would couldcause it not to create a anatomic protein and would accordingly advance to an added blight risk
*Test after-effects aback in about 4-6 weeks
*The lab will alarm if they are about to forward the after-effects and we will create a aftereffect arrangement to go over what the after-effects beggarly and what the options are
*Know your accident added definitively
*Know accident to your accouchement of accustomed the gene
*Reduce all-overs generally associated with not knowing
*Choose blockage options based aloft results
*Cost of the procedure
*Insurance issues ( i.e. whether or not they wish their allowance aggregation to pay for the test, but this is apparently added of an affair for those that dont already accept cancer)
*Fear of abiogenetic discrimination, although there is no affirmation that this is a problem (Should not be a problem if on a accumulation bloom allowance plan due to HIPPA.)
*Adverse cerebral effects
**Transmitter guilt
**Survivor guilt
**Depression
**Anxiety
*Other ancestors associates may not wish to know
*Result may not be advisory if a alternative is begin of ambiguous acceptation and this may abet even added all-overs and uncertainty
*More advancing screening may be advised if there is an added accident for developing breast or ovarian cancer
**Breast screening
***Mammography every year alpha at age 25-35 for alteration carriers
***Clinical breast assay every 6 months alpha by age 20
***Monthly self-breast assay alpha by age 18
**Ovarian screening
***Not apparent to be able in all-embracing analytic trials
***Transvaginal U/S w/ blush doplar imaging, CA-125, and pelvic assay every 6-12 months starting age 25-35
*Prophylactic surgeries
*prophylactic mastectomy
*reduces breast blight accident by 90% and afterlife by 81% (Mayo Dispensary attendant abstraction amid 1960-1993 that did not cover alteration status, but some were apparently alteration carriers)
*reconstruction (TRAM axle rectus belly muscle, silicone or acrid implants)
*most women annoyed with mastectomy but may couldcause physique angel and self-esteem problems and they lose nipple sensitivity
*in individuals with mutations accident of additional blight if breast tissue charcoal is estimated to be 60% by age 70
*prophylactic oophorectomy
*reduces accident of ovarian blight (BUT no agreement because ovarian blight can appear in the abdominals so accident is bargain to about 2-5%)
*reduces breast blight accident by up to 70% if removed afore age 40 and 40% if removed amid 40-49, not absolutely cogent change if removed afterwards 50
*recommended afterwards adolescent address is complete
*Chemoprevention
*tamoxifen reduces breast blight accident by 45% in high-risk women (but alien if BRCA carriers accept the aforementioned benefit) data advance that in alteration carriers it is able at abbreviation accident of additional primary blight in continued appellation survivors and reduces contralateral breast blight by 50-75%
*raloxifene may abate breast blight risk
*birth ascendancy pills acclimated for a absolute of 6 years or added reduces ovarian blight by 60% in BRCA alteration carriers and afterwards 3 years reduces it by 40-50%, but may hardly access breast blight risk
*Are there any additional questions or concerns?
*Determine absorption in options?
*Why does the being wish or not wish testing?
*What will the applicant do with the aftereffect (both absolute and abrogating result)?
*Will she change medical management?
*Who will she allotment the aftereffect with?
*If testing is absitively on actuate if they would wish to accompany anyone aback with them if they accept their results.
*Olopade OI and Fackenthal JD. Breast Blight Genetics: Implications for Analytic Practice. Hematology/oncology Clinics of Arctic America. 2000.
*Identifying and Managing Ancestral Accident for Breast and ovarian Cancer. American Medical Association. 2001.
*Genetic Counseling for Affiliated Breast and ovarian cancers: Accomplishments and Applied Strategies. Address by Karen Huelsman. Bounce 2002.
The advice in this outline was endure adapted in 2002.
*The lifetime adventitious of accepting breast blight in the accepted citizenry of women is about 11-12%.
*The accident is decidedly added in women with a alteration (50-85% for both BRCA1/2)
*The adventitious of accepting a additional breast blight that is not a ceremony is aswell actual top in alteration carriers (40-60% BRCA1).
*The adventitious of accepting ovarian blight is aswell decidedly added from about 1-2% in the accepted citizenry up to about 15-45% in BRCA1 carriers and 10-20% in BRCA 2 carriers
*Males can be alteration carriers aswell and advance breast blight (males that backpack BRCA2 mutations accept about 6% chance, a 100 bend increase)
*Other cancers possibly added accident with BRCA1 alteration (prostate RR=3.3 and colon RR=4.0)
*BRCA2 alteration associated with added prostate, laryngeal and pancreatic blight risks (unknown consequence of added risk)
*BRCA1/BRCA2 testing is offered if the accident is affected to be 10% or higher
*Testing usually begins with an afflicted ancestors affiliate because if they are begin not to accept a alteration then it tells us added advice than if an artless affiliate did not accept a alteration in one of these genes
*If a alteration is begin in that ancestors affiliate than it is beneath big-ticket to analysis artless ancestors associates because they attending for that aforementioned mutation
*Types of testing
**Comprehensive BRACAnalysis
***sequencing of both BRCA1 and BRCA2
***Myriad amount is $2680
**Rapid BRACAnalysis
***same as BRACAnalysis, but after-effects in 7-10 days
***Myriad amount is $3680
**Single website BRACAnalysis
***Single alteration assay for individuals with accepted BRCA1 or BRCA2 mutations in the family
***Myriad amount is $315
**Multisite 3 BRACAnalysis (detects about 83% of mutations in this citizenry 17% are carriers of additional mutations)
***Three alteration assay for Ashkenazi individuals
***Myriad amount is $375
***If a abrogating aftereffect can do abounding sequencing
*3 possibile results
*NEGATIVE --Neither of the two genes accept changes in them. If this were the case it wouldnt aphorism out the suspicion that the ancestors has a ancestral anatomy of breast cancer. However, if there is no story of ovarian blight it ability affluence their apperception because then it could be affected that their accident of ovarian blight is apparently not acceptable to be added aloft the citizenry risk
*VARIANT OF Ambiguous Acceptation --There is a change but we are borderline of what it agency and whether it would advance to an added blight accident (estimated to action about 10% of time)
*POSITIVE --A change is begin in the gene that would couldcause it not to create a anatomic protein and would accordingly advance to an added blight risk
*Test after-effects aback in about 4-6 weeks
*The lab will alarm if they are about to forward the after-effects and we will create a aftereffect arrangement to go over what the after-effects beggarly and what the options are
*Know your accident added definitively
*Know accident to your accouchement of accustomed the gene
*Reduce all-overs generally associated with not knowing
*Choose blockage options based aloft results
*Cost of the procedure
*Insurance issues ( i.e. whether or not they wish their allowance aggregation to pay for the test, but this is apparently added of an affair for those that dont already accept cancer)
*Fear of abiogenetic discrimination, although there is no affirmation that this is a problem (Should not be a problem if on a accumulation bloom allowance plan due to HIPPA.)
*Adverse cerebral effects
**Transmitter guilt
**Survivor guilt
**Depression
**Anxiety
*Other ancestors associates may not wish to know
*Result may not be advisory if a alternative is begin of ambiguous acceptation and this may abet even added all-overs and uncertainty
*More advancing screening may be advised if there is an added accident for developing breast or ovarian cancer
**Breast screening
***Mammography every year alpha at age 25-35 for alteration carriers
***Clinical breast assay every 6 months alpha by age 20
***Monthly self-breast assay alpha by age 18
**Ovarian screening
***Not apparent to be able in all-embracing analytic trials
***Transvaginal U/S w/ blush doplar imaging, CA-125, and pelvic assay every 6-12 months starting age 25-35
*Prophylactic surgeries
*prophylactic mastectomy
*reduces breast blight accident by 90% and afterlife by 81% (Mayo Dispensary attendant abstraction amid 1960-1993 that did not cover alteration status, but some were apparently alteration carriers)
*reconstruction (TRAM axle rectus belly muscle, silicone or acrid implants)
*most women annoyed with mastectomy but may couldcause physique angel and self-esteem problems and they lose nipple sensitivity
*in individuals with mutations accident of additional blight if breast tissue charcoal is estimated to be 60% by age 70
*prophylactic oophorectomy
*reduces accident of ovarian blight (BUT no agreement because ovarian blight can appear in the abdominals so accident is bargain to about 2-5%)
*reduces breast blight accident by up to 70% if removed afore age 40 and 40% if removed amid 40-49, not absolutely cogent change if removed afterwards 50
*recommended afterwards adolescent address is complete
*Chemoprevention
*tamoxifen reduces breast blight accident by 45% in high-risk women (but alien if BRCA carriers accept the aforementioned benefit) data advance that in alteration carriers it is able at abbreviation accident of additional primary blight in continued appellation survivors and reduces contralateral breast blight by 50-75%
*raloxifene may abate breast blight risk
*birth ascendancy pills acclimated for a absolute of 6 years or added reduces ovarian blight by 60% in BRCA alteration carriers and afterwards 3 years reduces it by 40-50%, but may hardly access breast blight risk
*Are there any additional questions or concerns?
*Determine absorption in options?
*Why does the being wish or not wish testing?
*What will the applicant do with the aftereffect (both absolute and abrogating result)?
*Will she change medical management?
*Who will she allotment the aftereffect with?
*If testing is absitively on actuate if they would wish to accompany anyone aback with them if they accept their results.
*Olopade OI and Fackenthal JD. Breast Blight Genetics: Implications for Analytic Practice. Hematology/oncology Clinics of Arctic America. 2000.
*Identifying and Managing Ancestral Accident for Breast and ovarian Cancer. American Medical Association. 2001.
*Genetic Counseling for Affiliated Breast and ovarian cancers: Accomplishments and Applied Strategies. Address by Karen Huelsman. Bounce 2002.
The advice in this outline was endure adapted in 2002.
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Tags: women, change, options, cancer, beginning, breast, family, counseling, testing, results, chance, removed, ovarian, carriers, second, result cancer, breast, mutation, brca1, ovarian, increased, carriers, mutations, results, hereditary, family, brca2, population, result, change, reduces, chance, found, women, beginning, removed, options, second, probably, testing, counseling, member, genetic, , breast cancer, ovarian cancer, mutation carriers, cancer risk, brca1 and, cancer brca1, increased risk, hereditary breast, breast cancer risk, breast cancer brca1, hereditary breast cancer, counseling hereditary breast, genetic counseling hereditary, |
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