Hereditary Cancer Program’s High-Risk Clinic: Experience to Date Melissa Laing, Nurse Practitioner

Hereditary Cancer Program’s High-Risk
Clinic: Experience to Date
Melissa Laing, Nurse Practitioner
Mary McCullum, Nurse Educator
April 2012
Objectives
1. To review the clinic’s first (almost) 15 years of experience
with high-risk screening for women with confirmed BRCA1
or BRCA2 gene mutations
2. To discuss related clinical challenges
Background
• Provincial interdisciplinary Hereditary Cancer Program
• High-risk clinic established in 1997 at BCCA-Vancouver
• Eligibility criteria includes women who are:
• confirmed BRCA1/2 mutation carrier OR at 50% risk
for known family BRCA1/2 mutation
• not currently under the care of an oncologist
• able to attend appointments in Vancouver
• have not completed risk-reducing bilateral mastectomy
• Referred by their genetic counsellor
• Also provide breast screening for a small number of women
with other hereditary cancer syndromes
Results to March 31, 2012
Chart review and basic database to describe:
• clinic participants
• new cancers diagnosed
• method of detection
• risk-reducing surgeries completed
• ongoing follow-up
Clinic Participants
• 498 women in total have been assessed to date
• 250 women are currently followed by the high-risk clinic
– majority are BRCA1/2+
– other syndromes:
• Ataxia Telangiectasia (n=3)
• Li-Fraumeni (n=2)
• Hereditary Diffuse Gastric Cancer (n=4)
• age 18-79 at initial consult
• majority from greater Vancouver area
Health
Region
%
popln
% clinic
pts
Fraser
35
33
Vancouver
Coastal
25
34
Vancouver
Island
17
17
Interior
16
13
Northern
7
1.5
Yukon
<1
1.5
Cancers diagnosed prior to participation in high risk clinic
Clinic
participants
(n=485)
n
(%)
No. with
breast ca
No. with
ovarian ca
No. with other
cancer
> 1 cancer
diagnosis
Declined
carrier test
41
(8%)
0
0
0
0
BRCA1+
243
(50%)
59
Unilat 50
Bilat 9
9
2 Hodgkins
1 endometrial
1* cervical and
colorectal
71
*also had br ca
BRCA2+
199
(41%)
48
6*
DCIS 2
Unilat 43
Bilat 3
*1 also had breast
cancer
1 scc H/N
1 rectal
1 lymphoma
1 cervical
1* endometrial
58
*also had br ca
BRCA1 &
BRCA2+
2
(0.4%)
0
0
0
0
Total
BRCA1/2+
444
(92%)
107
(24%)
15
(3.4%)
9
(2%)
129
(29%)
* includes 1 who also
had breast cancer
* includes 1 who also
had breast cancer
Clinic Appointments
•
•
•
•
Initial consultation with Nurse Practitioner and Nurse Educator
Regular follow-up every 6 months or annually
Clinical breast exam, imaging, referrals, decision support
Discussion includes:
– High-risk breast screening
– Prophylactic mastectomy with breast reconstruction
– Ovarian cancer screening not recommended
– Bilateral salpingo-oophorectomy recommendation; effects of
surgical menopause
Breast Screening Guidelines
•
•
•
•
•
Detailed clinical breast exam every 6 months starting at age 20
Annual bilateral breast MRI from age 25-65
Annual mammogram beginning at age 30
Mammograms and MRIs alternate at 6 month intervals (ideally)
Breast ultrasound if recommended by the radiologist
– eg. follow-up of abnormal finding, unable to tolerate MRI
• During pregnancy and lactation:
– clinical breast examination every 3 months
– MRI and mammogram are not recommended
– Breast ultrasound used to investigate abnormalities detected on breast
examination
– Regular MRI and mammogram resumes 3 months after completion of
breastfeeding
Ovarian Cancer
• Ovarian cancer screening methodologies (pelvic examination,
transvaginal ultrasound and CA-125) have limited sensitivity and
specificity and are therefore not recommended in British Columbia
• Oral contraceptive pills have been proven to reduce rates of
endometrial and ovarian cancer by 50% or more
• This benefit increases with duration of use and persists for up to 20
years after the oral contraceptives are stopped
• A protective effect, proportional to duration of use, was also
demonstrated for women with BRCA1/2 mutations
• The Society of Obstetricians and Gynecologists of Canada’s
position statement indicates that there is evidence that the use of
oral contraceptives in BRCA carriers does not increase their risk of
breast cancer above that related to their genetic risk
New Cancers Diagnosed
68 mutation carriers (15%) have had at least 1 new cancer dx
• 27 of those had a previous breast or ovarian cancer
• 5 had deferred carrier testing - proceeded after diagnosis
• 3 were diagnosed at their 1st clinic visit
• 5 have had 2 new diagnoses:
1) Bilateral breast ca (BRCA2+)
2) Invasive breast cancer + DCIS on contralateral
mastectomy (BRCA2+)
3) Bilateral DCIS (one detected on contralateral
mastectomy) (BRCA1+)
4) DCIS + peritoneal after BSO (BRCA1+)
5) 2nd breast cancer (multifocal) + ovarian cancer on BSO
(BRCA2+)
New Cancers Diagnosed
n
BRCA1+
BRCA2+
38
22
16
26
11
1
15
7
0
11
4
1
DCIS
9
5
4
LCIS
1
1
0
Ovarian ca
7
4
3
Fallopian tube ca
2
1
1
Peritoneal ca (after PBSO)
3
1
2
Pancreatic ca
2
0
2
Malignant melanoma
3
2
1
Gastric cancer
1
0
1
Colorectal cancer
1
1
0
Lung cancer
1
1
0
TOTAL
68
38
30
Invasive breast ca
#1 breast ca
#2 breast ca
#3 breast ca
Method of Cancer Detection
• Chart review for women with new breast or ovary cancer to identify
method by which an abnormality was initially reported
• Additional imaging required for confirmation in some cases
• Numbers too small to report by BRCA1/2 status
• 8 new cancers (breast or ovarian) diagnosed on pathology review at
time of prophylactic surgery
New breast cancers
Detection Method
Breast ca
DCIS
LCIS
Screening MRI
21
0
0
Screening mammo
8
7
0
Self-exam
6
0
1
Clinical exam
0
0
0
2 (one while
0
0
2 (contralateral)
0
Screening ultrasound
lactating)
Prophylactic mastectomy
1
New “ovarian” cancers
Detection
Method
Ovarian
cancer
Fallopian
tube cancer
Peritoneal cancer
after BSO
Screening
ultrasound
1
1
n/a
Symptomatic
3
0
3
Prophylactic
Surgery
3
1
0
Risk-Reducing Mastectomy
• Reviewed with each woman who attends the clinic
• Reduces the probability of breast cancer by 90-95%
• Option of nipple-sparing mastectomy is reviewed with the
surgeon
• Breast reconstructive options are briefly reviewed
• Most choose reconstruction (but not all)
• After bilateral mastectomy, women are discharged to
their family physicians for routine examination of
reconstructed breasts and regional nodes; routine
imaging of reconstructed breasts is not recommended
Risk-Reducing BSO
• Bilateral salpingo-oophorectomy
• Recommended to all BRCA1/2+ women between the ages of
35-40 and once childbearing is complete
• Reduces the probability of ovarian cancer by 85-95% and
reduces the risk of breast cancer by approximately 50% when
performed prior to menopause
• Small number of women have “actively declined” surgeries
• 2 women who declined carrier testing have completed BSO
• 3 women have completed salpingectomy alone (with plans to
proceed with oophorectomy prior to age 40)
• The effects of surgical menopause, the impact on bone, heart and
brain health, as well as hormone replacement therapy are
reviewed with women pre-operatively; ongoing management of
related concerns is provided
• Short-term HRT does not negate the protective effect of BSO on
subsequent breast cancer risk
Surgery
Completed
Unaffected
(br/ov)
n = 324
Previous
br ca
n = 107*
Previous
ov ca
n = 15*
* 1 with previous br + ov ca
* 1 with previous br + ov ca
Bilateral
Mastectomy
(only)
25
(7%)
2 BM as tx
2 CPM
1 BM after GT
BSO (only)
101
(31%)
45
15 had BSO as
part of treatment
Excludes: 1 with previous ov ca
Includes: 1 with
previous br ca
16 BM as br ca tx & BSO
20 CPM & BSO
11 BM & BSO after GT
1 BM and BSO
+/hysterectomy
Both BM
and BSO
57
(18%)
BSO: bilateral salpingo-oophorectomy; BPM: bilateral prophylactic mastectomy; CPM: contralateral
prophylactic mastectomy
Ongoing Follow-up & Discharge from Clinic
247 women (~50%) who attended at least one clinic appt are
not currently being followed:
• 45% discharged after risk-reducing surgeries complete
• 15% discharged to oncologist re new cancer
• 11% discharged to GP (e.g. older & ineligible for MRI)
• 9% lost to follow-up
• 7% moved out of province
• 7% deceased
• 6% declined further appointments
Clinical Challenges
• Breast screening as an emotional rollercoaster
• MRI access
– Priority booking system/waiting list
– Coordination with menstrual cycle
• Breast reconstruction
– Vancouver waiting list
– Other locations
• BSO decision-making
– Young and single/childless
– Surgical menopause
• “lost to follow-up”
– Recent letter to pt/MD
• Appts missed/cancelled on short notice
– Weather, travel, forgot
Future Directions
• Access to high-risk screening in each health region
• Enhanced data collection & analysis
• Research opportunities e.g.
–
–
–
–
–
–
C Wilson project re outcomes of imaging
Breast reconstruction waiting list
Long-term follow-up (after risk-reducing surgeries)
J Kwon project to model BSO vs salpingectomy
Sexual health after BSO
? New ovarian screening methods
• Screening for other high-risk populations
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