Handbook of Abiogenetic Counseling Breast Blight - Ashkenazi Jew

 18 June 03:30   Breast Blight - Ashkenazi Jew

    (throughout)

    *0.2% by age 29

    *0.8% by age 39

    *2.3% by age 49

    *4.9% by age 59

    *8.2% by age 69

    *11.0% by age 79 -lifetime risk.

    *Three types of risk

    **population risk

    **age based risk

    **lifetime risk

    *Risks associated with dev. Breast cancer

    **General pop. Lifetime = 11%

    **BRCA1/BRCA2 lifetime = 87%

    *Jewish carriers - 56% lifetime

    **BRCA1/BRCA2 age 40 = 20%

    **BRCA1/BRCA2 age 59 = 59%

    **BRCA1/BRCA2 age 70 = 82%

    *Risk of dev. Additional primary breast bump BRCA1

    **age 50 = 48%

    **age 70 = 64%

    *Risk of additional breast blight with BRCA2

    **50% lifetime risk

    *Ovarian blight risk

    **General pop lifetime = 1-2%

    **age 50 w/ BRCA1= 29%

    **age 70 w/BRCA1 = 44%

    **Jew. Pop= 16%

    **age 70 w/BRCA2 = 15-20%

    *Other blight risks

    **Prostate blight = 30% (gen. pop = 17%)

    **laryngeal cancer, pancreatic blight = slight increase

    **Jewish pop. prostate cancer=16% (depending on alteration - see after-effects affair outline)

    **Colon blight slight increase

    **Male breast in BRCA2 age 70 = 6% (pop.=0.1%)

    *The absolute test

    **Ashkenazi leash analysis (direct alteration analysis)

    *$375

    **BRCA1/BRCA2 sequencing

    *after leash awning = $2380

    *Reasons to test

    **improved accident management

    **answer ? about the blight risk

    **Info for ancestors members

    **Lifestyle choices

    *Reasons not to test

    **psychological distress

    **worries of discriminations of employment/insurance

    **change in ancestors dynamics

    *guilt complex

    *survivor guilt

    **false faculty of security

    *Limitations of testing

    **The accessible after-effects of As*Jew. panel

    *positive result

    *negative aftereffect - may be one of the 17% who do not accept the accepted mutations. Able adumbration to do sequencing.

    **the accessible after-effects of sequencing

    *positive, accepted mutation

    *negative aftereffect - not advisory unless we understand a antecedent mutation

    *mutation of alien acceptation - it is a alteration but we dont understand what it means.

    **not all mutations are detected

    **results are a probability, not a certainty.

    *Two types of testing

    **Research

    *free

    *only tests some of the genes

    *detects 50% of mutations

    *takes 6-12 months

    **Clinic

    *expensive ($2400 for first relative)

    *sequences absolute gene

    *takes 3-6 weeks (one month)

    *Health insurance

    **passage of HIPAA (Health allowance portability and accountability act)

    *for groups plans

    *protects from a change in alone allegation based on abiogenetic testing

    *genetic testing after-effects can not be beheld as a ahead absolute condition

    *doesnt anticipate admission to abiogenetic info.

    *doesnt anticipate insurers from ambitious testing as a advantage condition

    *doesnt anticipate accumulation amount hikes

    *doesnt accommodate aegis if you are alfresco a accumulation plan.

    *doesnt awning activity or affliction issues

    *Positive for deleterious mutation

    *Negative for mutation

    **means that for the areas tested, there is no gene mutation.

    **ONLY absolute if thee is a accepted alteration in the family

    **Possibility of additional genes that we dont understand about.

    *Variant of alien significance

    *Breast recommendations for at accident ancestors members

    **monthly cocky breast assay (starting at age 18)

    **clinical surveillance - every 6-12 months (starting at age 25)

    **annual mammography (age 25-35)

    **prophylactic mastectomy

    *reduces risk

    *Ovarian screening

    **Pelvic exam

    **Transvaginal ultrasound -every 6-12 months (staring at age 25-35)

    *more acute than transabdominal ultrasound

    *minor ache (bladder is empty)

    *assess aberrant structural findings

    **ovarian volume

    **cyst bank thickness

    **septal structure

    **CA-125 testing - every 6-12 months

    *measures a actinic in your claret - glycoprotein antigen - afford in claret beck from ovarian blight cells.

    *level is animated ½ patients with date I ovarian cancer

    *level is animated in 90% of patients date II ovarian cancer

    *sensitivity is low

    *specificity is low due to additional accidental factors

    **prophylactic oophorectomy

    *eliminates primary ovarian blight accident (but balance could accept cancer)

    *induces menopause

    *Colon screening

    **colonoscopy every 3-5 years starting age 50

    **annual begrimed abstruse tests

    The advice in this outline was endure adapted in 2000.