Hereditary Breast and Ovarian Cancer Syndrome

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Transcript Hereditary Breast and Ovarian Cancer Syndrome

Hereditary Breast and Ovarian
Cancer Syndrome
Background Information
• 10% of ovarian cancer is genetic
• 5% of breast cancer is genetic
• BRCA 1 and 2
BRCA
• Incidence is 1 out of 300-800 in the general
population
• BRCA 1 pos risk of ovarian cancer is 39-46%
and risk of breast cancer is 65-75%
• BRCA 2 pos risk of ovarian cancer is 12-20%
and risk of breast cancer is 65-75%
• BRCA pos ovarian cancer is mainly high grade
serous or endometroid
20-25% Chance of BRCA pos
• PH of both breast and ovarian cancer
• PH of ovarian cancer and 1 close relative with
ovarian cancer or premenopausal breast
cancer
• PH of breast cancer <50 and close relative
with ovarian cancer or male breast cancer any
age
• FH of close relative that is BRCA pos
5-10% Chance of BRCA
• PH breast cancer <40 years
• PH of high grade serous ovarian cancer any
age
• PH of bilateral breast cancer
• PH of breast cancer <50 yrs and close relative
with breast cancer <50 yrs
• PH of breast cancer any age and 2 close
relatives with breast cancer any age
What to do if BRCA pos?
• Ca 125 and pelvic ultrasound beginning age
30-35
• Use birth control pills for contraception
• Prophylactic BSO
– Ovarian cancer reduction 90%
– Breast cancer reduction 40-70%
• Prophylactic mastectomy
– 90-95% reduction
What to do if BRCA pos?
• Breast MRI annually at age 25
• Tamoxifen
– Only helps BRCA 2 with reduction of 60%
Salpingectomy for Prevention of
Ovarian Cancer in Low Risk
Populations
Should the fallopian tube be removed
and leave the ovaries?
• Concern regarding reduced ovarian function
when you remove the tube
• Preserving the ovaries would benefit woman
when it comes to bone health and
cardiovascular disease
• Total salpingectomy is not reversible
Vulvodynia
Formerly known as Vestibulitis or
Vestibular Adenitis
Clinical Triad
• Entrance dysparunia
• Recurrent bouts of vaginitis
• Chronic UTI episodes or symptoms
Physical Exam
• Initial inspection to look for dermatologic
causes of pain
• Map tender areas with a Q-tip
• Speculum exam to look for atrophy or vaginitis
• Single digit exam to isolate areas of
tenderness
• Bimanual exam to determine if there is
cervical, uterine, or adenexal tenderness
Treatment
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Avoid vulvar irritants
Mid potency corticosteroid ointment
Topical lidocaine 5% ointment
Tricyclic antidepressants
Gabapentin
Topical estrogen
Pelvic floor relaxation