Sciencedirect: Screening Practices For Breast and Nonbreast Cancers in High-Risk Mutation Carriers

j o u r n a l o f s u r g i c a l r e s e a r c h n o v e m b e r 2 0 2 3 ( 2 9 1 ) 3 8 8 e3 9 5
Available online at www.sciencedirect.com
ScienceDirect
journal homepage: www.JournalofSurgicalResearch.com
Association for Academic Surgery
Screening Practices for Breast and Nonbreast

Cancers in High-Risk Mutation Carriers
Alison C. Coogan, MD,a,* Lilia G. Lunt, MD,a Sarah S. Keshwani, MD,a

Olivia Sandhu, BS,b Yanyu Zhang, MS,c
Cristina O’Donoghue, MD, MPH,a and Andrea Madrigrano, MDa
a
Department of Surgery, Rush University Medical Center, Chicago, Illinois
b
Rush Medical College, Chicago, Illinois
c
Rush Research Informatics Core, Rush University Medical Center, Chicago, Illinois
article info abstract
Article history: Introduction: Women with breast cancer often undergo genetic testing and may have a
Received 1 March 2023 pathogenic variant associated with multiple cancers. This study examines the current
Received in revised form screening practices for breast and nonbreast cancers in mutation carriers.
17 May 2023 Methods: An institutional retrospective chart review of patients with BRCA1, BRCA2, ATM,
Accepted 12 June 2023 CHEK2, BARD1, BRIP1, PALB2, and TP53 mutations were identified. Adherence to recom-
Available online 27 July 2023 mended screening based on National Comprehensive Cancer Network guidelines was
analyzed.
Keywords: Results: Six hundred sixty-two patients met inclusion criteria: 220 patients with BRCA1, 256
Breast cancer patients with BRCA2, 58 patients with PALB2, 51 patients with ATM, 48 patients with
Cancer screening CHEK2, 14 patients with BRIP1, 10 patients with BARD1, and 5 patients with TP53. Overall,
Colorectal cancer 214 (46%) of eligible patients completed recommended breast imaging. Of 106 patients
High risk genetic mutation eligible for pancreatic cancer screening, 20 (19%) received a magnetic resonance chol-
Pancreatic cancer angiopancreatography and 16 (15%) received an endoscopic ultrasound. On multivariable
analysis, age was associated with improved breast imaging adherence: patients in age
groups 40-55 (adjusted odds ratio 2.05, 95% confidence interval 1.18-3.55) and age 56-70
(adjusted odds ratio 2.16, 95% confidence interval 1.18-3.95, P ¼ 0.012) had better adherence
than younger patients.
Conclusions: Increases in genetic testing and updates to National Comprehensive Cancer
Network guidelines provide an opportunity for improved cancer screening. While recom-
mended breast cancer screenings are being completed at higher rates, there is a need for
clear protocols in this high-risk population.
ª 2023 Elsevier Inc. All rights reserved.
* Corresponding author. Department of Surgery, Rush University Medical Center, 1750 W Harrison, Suite 775, Chicago, IL 60612.
E-mail address: alison_c_coogan@rush.edu (A.C. Coogan).
0022-4804/$ e see front matter ª 2023 Elsevier Inc. All rights reserved.
https://doi.org/10.1016/j.jss.2023.06.001
Descargado para Sara Valentina García (saravalenga11@hotmail.com) en University Foundation Sanitas de ClinicalKey.es por Elsevier en mayo 04, 2024.
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coogan et al cancer screening in high-risk patients 389
Introduction for tests or referrals. Appropriate patients are enrolled in our

high-risk breast cancer clinic, which can also assist with
Breast cancer is the most common cancer in women, screening for cancers outside of the breast for appropriate
excluding skin cancer, and 5%-10% of new cases can be patients. The study was approved by the appropriate institu-
attributed to hereditary mutations.1 The most common mu- tional review board with a waiver for informed consent.
tations associated with breast cancer are BRCA1 and BRCA2,
accounting for 15% of hereditary breast cancers, followed by
PALB2, CHEK2, and ATM.2 While these hereditary mutations Data collection
are linked to breast cancer, they may also be associated with
other types of cancer, such as ovarian, pancreatic, and colo- All data collection was obtained via manual chart review.
rectal. High-penetrance genes for hereditary breast cancer Medical records were queried for demographic characteris-
and ovarian cancer include BRCA1, BRCA2, and TP53.3 PALB2, tics, including age, race, ethnicity, and insurance. Insurance
ATM, BARD1, and CHEK2 are also associated with an increased was recorded as the current insurance provider. Details of
risk of breast cancer.4 ATM and TP53 are also associated with genetic mutation diagnosis were also analyzed, including date
pancreatic cancer; ATM and BRIP1 with ovarian cancer; CHEK2 of diagnosis and if the test was done for family history or a
with colorectal cancer; and TP53 additionally with skin, brain, personal cancer diagnosis.
colorectal, and other rare cancers.4 Frequency and recommended age of screening for each
The National Comprehensive Cancer Network (NCCN) patient was analyzed according to the 2021 NCCN guidelines
Clinical Practice Guidelines in Oncology have specific recom- (Table 1). Personal and family history of cancer was detailed
mendations for patients with known hereditary mutations based on genetic counselor and physician notes, including all
associated with an increased risk of cancer, both breast cancer oncology treatments for a personal history of cancer.
and nonbreast cancer.3,4 These recommendations include Completed screenings were counted starting after a patient
screening guidelines, often with imaging or endoscopy, and received their genetic mutation diagnosis through 2021. All
some include the consideration of risk-reducing surgery. screening results available in our EMR were included, even if
Adherence to screening recommendations requires provider they were completed at an outside institution. If a patient was
knowledge, patient education, and office or hospital level deceased prior to 2021, all screening tests were counted until
systems and coordination. While these guidelines are widely the year of death. For annual or repeat screenings, such as
published, little is known on ordering practices and adher- breast magnetic resonance imaging (MRI), mammogram, or
ence, particularly for nonbreast cancers. colonoscopy, the number of completed screenings and num-
In this study, we aim to examine adherence to current ber of recommended screenings according to the NCCN
screening practices for breast and nonbreast cancers in ge- guidelines were counted. For example, if a 50-year-old patient
netic mutation carriers according to NCCN guidelines at a was diagnosed with BRCA1 5 y prior and completed two
single academic institution. Understanding how these guide- annual MRIs and mammograms, they were considered to
lines are being utilized by patients and providers can provide a have completed 2/5 (40%) of screenings. Women with dense
first step to identify ways to improve surveillance of this high- breast tissue were required only to complete an MRI, not
risk population, particularly as genetic testing becomes more mammogram, to be considered adherent. A patient was
common and guidelines broaden. considered to not require a mammogram during a year when
they were currently undergoing treatment for breast cancer or
had undergone a bilateral mastectomy. Additionally, patients
Methods undergoing treatment for metastatic disease or who decided
to pursue only palliative care measures for metastatic disease
Patient population were considered not to require further cancer screening. For
one-time screenings such as abdominal MRI, magnetic reso-
We performed an institutional retrospective chart review of nance cholangiopancreatography (MRCP), or endoscopic ul-
all patients with known BRCA1, BRCA2, ATM, CHEK2, BARD1, trasound (EUS), all completed screening tests were counted.
BRIP1, PALB2, or TP53 mutations diagnosed between 2000 and All patients with a referral to gastroenterology were recorded,
2021, as maintained by the institutional genetic counseling regardless of whether appropriate screening tests were
department. All patients diagnosed with a listed genetic mu- obtained.
tation were included, and there were no exclusion criteria. When analyzing risk-reducing surgeries, all patients
This institution is an academic tertiary care center located in without a personal history of the targeted cancer were
an urban environment. Our study size was determined by included, while some patients with a personal history of the
including all patients with defined genetic mutations. We targeted cancer were excluded. Patients who underwent
controlled for selection bias by including all patients who bilateral mastectomies for breast cancer treatment were
visited this institution. At this institution, all patients with a excluded from analysis of risk-reducing mastectomy (RRM). If
high-risk genetic mutation meet with a genetic counselor. a patient underwent a unilateral mastectomy for breast can-
After this appointment, the genetic counselor sends a letter cer, they were included in RRM analysis after treatment was
via our electronic medical record (EMR) system to the referring complete. Patients with a personal history of ovarian or
provider with recommended screening according to NCCN endometrial cancer were excluded from analysis of risk-
guidelines. The genetic counselor does not place any orders reducing salpingo-oophorectomy (RRSO).
390 j o u r n a l o f s u r g i c a l r e s e a r c h n o v e m b e r 2 0 2 3 ( 2 9 1 ) 3 8 8 e3 9 5
Table 1 e Summary of 2021 NCCN screening guidelines.

Genetic Breast cancer screening* Pancreatic cancer screening Other cancer screening
mutation
BRCA1 - Age 25-29: Annual breast MRI If a family history present:y Ovarian cancer
- Age 30-75: Annual mammogram and breast - MRCP/abdominal MRI and/or - Recommend RRSO at age 35-40 y, at
MRI EUS completion of childbearing
- Age >75: Screening on an individual basis
- Discuss RRM
BRCA2 - Age 25-29: Annual breast MRI If a family history present:y Ovarian cancer
- Age 30-75: Annual mammogram and breast - MRCP/abdominal MRI and/or - Recommend RRSO at age 40-45 y, at
MRI EUS completion of childbearing
- Age >75: Screening on an individual basis
- Discuss RRM
PALB2 - Age 30: Annual mammogram and consid- If a family history present:y Ovarian cancer
eration of breast MRI - MRCP/abdominal MRI and/or - Consideration of RRSO based on
- Discuss RRM EUS family history
ATM - Age 40: Annual mammogram and consid- If a family history present:y Ovarian cancer
eration of breast MRI - MRCP/abdominal MRI and/or - Consideration of RRSO based on
- Consideration of RRM based on family history EUS family history
CHEK2 - Age 40: Annual mammogram and consid- Colorectal cancer
eration of breast MRI - Age 40: Colonoscopy every 5 y
- Consideration of RRM based on family history
BRIP1 - Age 40: Annual mammogram Ovarian cancer
- Consideration of RRSO at age 45-50 y
BARD1 - Age 40: Annual mammogram and consid-
eration of breast MRI
TP53 - Age 20-29: Annual breast MRI If a family history present:y - Annual comprehensive physical
- Age 30-75: Annual mammogram and breast - MRCP/abdominal MRI and/or exam and neurological exam for
MRI EUS rare cancers
- Age >75: Screening on an individual basis - Age >18: Annual dermatologic exam
- Discuss RRM - Age >25: Colonoscopy and upper
endoscopy every 2-5 y
- Annual whole-body MRI, including
brain
All ages reported in years.

*
For female patients.
y
A family history of pancreatic patients included patients with a first- or second-degree relative from the same side of the family as the germline
mutation, patients with 2 first-degree relatives from the same side of the family even in the absence of known germline mutation, or patients
with 3 first- and/or second-degree relatives from the same side of the family even in the absence of a known germline mutation.
Statistical analysis with TP53 (Table 2). Most patients were diagnosed with a ge-
netic mutation after a personal diagnosis of cancer for all
Categorical variables were presented as frequencies and per- mutations (60%-100%) (Table 2). Patients were more
centages. Continuous variables were summarized with me- commonly female and White. Females represented at least
dian and standard deviation. Descriptive analyses were 71% of each genetic mutation group. In each mutation sub-
grouped by genetic mutation. Logistic regression models were group, patients who are White represented 59%-80% of pa-
used to evaluate patient factors associated with improved tients, patients who are Black represented 2%-22% of patients,
adherence to screening guidelines, including age, sex, race, and patients who are Asian represented 0%-5% of patients.
ethnicity, insurance, and personal history of cancer. These Non-Hispanic patients were the majority, representing 84%-
multivariable models included patients from all mutations 100% of each subgroup. Most patients had private insurance
that qualified for the imaging or risk-reduction surgery ac- (40%-79% of each subgroup), followed by Medicare,
cording to NCCN guidelines, as described above. Analyses Medicaid, uninsured, and hospice care. On average, patient
were performed with SAS v9.4 (SAS, Cary, NC). adherence to screening was evaluated for 5.7 y (standard de-
viation: 4.8 y).
Results Breast and ovarian cancer screening
Six hundred sixty-two total patients met inclusion criteria: There was a large range of completion rates for breast cancer
220 patients with BRCA1, 256 patients with BRCA2, 58 patients screenings (Table 3). Overall, for patients age 30, 131 (28%)
with PALB2, 51 patients with ATM, 48 patients with CHEK2, 14 patients completed 0%-25% of recommended breast imaging,
patients with BRIP1, 10 patients with BARD1, and 5 patients 85 (18%) patients completed 26%-50% of recommended breast
Table 2 e Patient characteristics by genetic mutation.

Patient characteristic BRCA1 BRCA2 PALB2 ATM CHEK2 BRIP1 BARD1 TP53
N (%) N (%) N (%) N (%) N (%) N (%) N (%) N (%)

Total 220 256 58 51 48 14 10 5
Cancer diagnosis*
Yes 142 (65) 154 (60) 38 (66) 31 (61) 29 (60) 9 (64) 6 (60) 5 (100)
No 78 (35) 102 (40) 20 (34) 20 (39) 19 (40) 5 (36) 4 (40) 0 (0)
Age (y) (median, SD) 54 16 54 16 56 14 54 16 57 15 58 15 54 16 38
Sex
Female 197 (90) 223 (87) 52 (90) 42 (82) 38 (79) 10 (71) 9 (90) 5 (100)
Male 23 (10) 32 (13) 6 (10) 9 (18) 10 (21) 4 (29) 1 (10) 0 (0)
Race
White 151 (69) 152 (59) 34 (59) 35 (69) 46 (98) 11 (79) 5 (50) 4 (80)
Black 34 (15) 56 (22) 10 (17) 9 (18) 1 (2) 2 (14) 4 (40) 1 (20)
Asian 8 (4) 12 (5) 2 (3) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0)
Other 27 (12) 36 (13) 12 (21) 6 (12) 1 (2) 1 (7) 1 (10) 0 (0)
Ethnicity
Hispanic 20 (9) 31 (86) 9 (16) 5 (10) 1 (2) 2 (14) 1 (10) 0 (0)
Non-Hispanic 200 (91) 225 (14) 49 (84) 46 (90) 47 (98) 12 (86) 9 (90) 5 (100)
Insurance
Private 142 (65) 172 (67) 46 (79) 36 (71) 31 (65) 9 (64) 7 (70) 2 (40)
Medicare 38 (17) 53 (21) 8 (14) 11 (22) 17 (35) 4 (29) 2 (20) 3 (60)
Medicaid 26 (12) 14 (5) 3 (5) 4 (8) 0 (0) 1 (7) 1 (10) 0 (0)
Hospice 3 (1) 3 (1) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0)
Uninsured 2 (1) 9 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0)
SD ¼ standard deviation.
*
If diagnosis of genetic mutation was made due to a personal diagnosis of cancer.
Table 3 e Breast cancer screening and risk-reducing surgery for qualified patients.
Screening modality or Risk-reducing surgery BRCA1 BRCA2 PALB2 ATM CHEK2 BRIP1 BARD
N (%) N (%) N (%) N (%) N (%) N (%) N (%)

Age 25-29 annual breast MRI
0%-25% 6 (23) 3 (38) - - - - -
26%-50% 7 (27) 3 (38) - - - - -
51%-75% 2 (8) 0 (0) - - - - -
76%-100% 11 (42) 2 (25) - - - - -
Age 30 annual breast imaging*
0%-25% 45 (31) 63 (31) 9 (21) 9 (32) 3 (10) 1 (13) 1 (25)
26%-50% 21 (14) 37 (18) 6 (14) 7 (25) 10 (33) 4 (50) 0 (0)
51%-75% 11 (8) 13 (6) 4 (10) 2 (11) 1 (3) 0 (0) 0 (0)
76%-100% 69 (47) 91 (45) 23 (55) 9 (32) 16 (53) 3 (38) 3 (75)
Prophylactic gynecology surgery
Yes 70 (66) 74 (53) 16 (31) 2 (5) - 1 (10) -
No 36 (34) 66 (47) 25 (69) 39 (95) - 9 (90) -
Prophylactic breast surgery
Yes 58 (55) 64 (45) 15 (30) 6 (14) 13 (35) - 2 (22)
No 48 (45) 77 (55) 35 (70) 36 (86) 24 (65) - 7 (78)
*
Starting age of annual breast MRI and mammogram according to NCCN guidelines (BRCA1 30 y, BRCA2 30 y, PALB2 30 y, ATM 40 y, CHEK2 40 y,
BRIP1 40 y, BARD 40 y).
Table 4 e Multivariable logistic regression for likelihood of obtaining breast cancer screening or undergoing risk-reduction
surgery.
Parameter Complete >75% mammograms RRM RRSO
aOR 95% CI P value aOR 95% CI P value aOR 95% CI P value

Age
<40 Ref Ref Ref
40-55 2.05 1.18-3.55 0.010 1.55 0.72-3.32 0.27 2.14 0.96-4.79 0.062
56-70 2.16 1.18-3.95 0.012 0.89 0.40-1.99 0.77 2.94 1.23-6.83 0.012
>70 1.14 0.51-2.58 0.745 0.70 0.24-2.05 0.52 2.22 0.79-6.26 0.132
Race
White Ref Ref Ref
Black 1.05 0.64-1.76 0.831 1.10 0.61-1.96 0.756 0.91 0.52-1.60 0.738
Asian 1.29 0.50-3.36 0.600 0.35 0.09-1.40 0.14 0.69 0.21-2.27 0.541
Other 0.90 0.33-2.46 0.831 2.59 0.71-9.45 0.15 1.21 0.35-4.18 0.766
Hispanic
No Ref Ref Ref
Yes 1.91 0.71-5.11 0.197 0.48 0.14-1.70 0.258 0.77 0.23-2.59 0.667
Insurance
Private Ref Ref Ref
Medicaid 0.72 0.35-1.50 0.387 0.73 0.32-1.66 0.45 0.85 0.38-1.90 0.692
Medicare 1.10 0.59-2.04 0.773 0.25 0.11-0.58 0.001 0.82 0.30-1.27 0.188
Hospice 999 0.001-999 1 0.001 0.00-999 0.986 <0.001 0.00-999 0.994
Not insured 0.86 0.19-4.04 0.852 1.16 0.23-5.97 0.86 <0.001 0.00-999 0.985
Cancer diagnosis*
Yes Ref Ref Ref
No 0.653 0.43-1.00 0.512 0.42 0.26-0.69 0.0006 0.90 0.56-1.45 0.670
Ref ¼ reference.
*
imaging, 31 (7%) patients completed 51%-75% of recom- the 338 eligible patients. RRSO was performed on 158 (41%) of
mended breast imaging, and 214 (46%) patients completed 385 eligible patients.
76%-100% of recommended breast imaging. Thirty-four pa- While adjusting for other covariates, patients in age groups
tients were diagnosed with a genetic mutation between ages 40-55 (adjusted odds ratio [aOR] 2.05, 95% confidence interval
25-29 and were eligible for annual breast MRI: 9 (26%) received [CI] 1.18-3.55, P ¼ 0.010) and 56-70 (aOR 2.16, 95% CI 1.18-3.95,
0%-25% of screening, 10 (29%) received 26%-50% of screening, P ¼ 0.012) are more likely to have >75% of breast imaging than
2 (6%) received 51%-75% of screening, and 13 (38%) received younger patients (Table 4). Patients with Medicare are less
75%-100% of screening. RRM was performed on 163 (48%) of likely to have RRM than patients with private insurance (aOR
Table 5 e Pancreatic cancer screening for qualified patients.

Screening Modality BRCA1 BRCA2 PALB2 ATM
N (%) N (%) N (%) N (%)

MRCP or abdominal MRI
Yes 2 (7) 14 (26) 2 (15) 2 (17)
No 25 (93) 40 (74) 11 (85) 10 (83)
EUS
Yes 1 (4) 11 (20) 2 (15) 2 (17)
No 26 (96) 43 (80) 11 (85) 10 (83)
GI referral
Yes 19 (70) 26 (48) 10 (77) 5 (42)
No 8 (30) 28 (52) 3 (23) 7 (58)
GI ¼ gastroenterology.
Table 6 e Multivariable logistic regression for likelihood of obtaining imaging for pancreatic cancer screening.
Parameter MRCP/MRI EUS
aOR 95% CI P value aOR 95% CI P value

Age
<40 Ref Ref
40-55 1.67 0.33-8.47 0.54 6.51 0.37-115 0.201
56-70 0.93 0.14-6.05 0.94 6.86 0.35-132 0.202
>70 0.67 0.06-7.23 0.74 5.87 0.23-155 0.289
Sex
Female Ref Ref
Male 1.50 0.33-6.71 0.599 0.89 0.16-4.98 0.899
Race
White Ref Ref
Black 1.43 0.35-5.76 0.617 1.45 0.34-6.23 0.62
Asian 0.53 0.12-15.4 0.711 7.79 0.56-108 0.13
Other 2.59 0.17-40.2 0.497 15.4 0.41-575 0.14
Hispanic
No Ref Ref
Yes 0.672 0.032-14.2 0.798 0.13 0.00-6.17 0.30
Insurance
Private Ref Ref
Medicaid 1.91 0.20-18.7 0.578 0.81 0.06-10.1 0.870
Medicare 3.47 0.63-19.2 0.154 1.73 0.33-9.0 0.517
Not insured 3.96 0.17-94.6 0.395 0.60 0.01-32.0 0.801
Cancer diagnosis*
Yes Ref Ref
No 1.75 0.56-5.48 0.336 1.71 0.53-5.54 0.371
Ref ¼ reference.
*
0.25, 95% CI 0.11-0.58, P ¼ 0.001) (Table 4). Patients who were completed more than 75% of appropriate colonoscopies, and 7
diagnosed based on family history are less likely to have RRM (23%) completed less than 25% of annual screening.
than patients with a personal history of cancer (aOR 0.42, 95%
CI 0.26-0.69, P ¼ 0.0006) (Table 4). Patients in age group 56-70 TP53 specific screening
are more likely to have RRSO than younger patients (aOR 2.94,
95% CI 1.23-6.83, P ¼ 0.012) (Table 4). Only one patient with TP53 survived to the age of appropriate
screening. She did not receive a dermatologic exam, colo-
noscopy, upper endoscopy, or whole-body MRI, including
Pancreatic cancer screening
brain.
The minority of patients received pancreatic cancer screening

according to the NCCN guidelines (Table 5). Overall, there
were 106 patients eligible for pancreatic cancer screening. Discussion
Twenty (19%) received an MRCP, 16 (15%) received a EUS, and
60 (57%) had a referral to gastroenterology. When adjusting for Genetic testing has become more widespread and plays an
other covariates, no variables (including age, sex, race, important role in treatment and screening protocols for pa-
ethnicity, insurance, or cancer diagnosis) had a significant tients. There are several factors that can influence adherence
impact on completing imaging for pancreatic cancer to these screening protocols, including patient, provider, and
screening (Table 6). system processes. Our single institution study shows that
even at a comprehensive cancer care institution with a focus
on multidisciplinary care and a genetic counseling depart-
Colorectal cancer screenings ment, adherence to NCCN guidelines can be difficult to
maintain. While this study does not delve into the reasons
Thirty of 48 patients with CHEK2 were older than 40 and why a patient was not adherent to recommendations, un-
qualified for colonoscopy at least every 5 y according to the derstanding the rates of adherence with screening practices is
NCCN guidelines (Table 7). Of these, 22 (73%) patients a crucial first step for improvement. Most studies have
Providers may also differ on who should be ordering these

Table 7 e Colorectal cancer screening for qualified
patients. screening exams, whether specialists or a primary care
physician. Hospital policies can provide a clear, streamlined
Screening modality CHEK2
protocol involving all necessary providers to ensure commu-
N (%) nication and improved adherence. At our institution, we are
Colonoscopy every 5 y beginning age 40 implementing prewritten phrases into our EMR system that
are easily accessible by all providers for each genetic muta-
0%-25% 7 (23)
tion, including current screening guidelines and links to
26%-50% 0 (0)
further information, in order to make this information more
51%-75% 1 (3)
available quickly and easily during clinic. These phrases will
76%-100% 22 (73) be able to be tailored to each patient. Additionally, there are
multidisciplinary discussions in our high-risk breast cancer
clinic on protocols for ordering tests and ensuring appropriate
focused on breast cancer screening, which is an important screening. Once established, we hope to expand these pro-
factor in this patient population. However, there is a lack of tocols to our general genetic counseling department for all
data on whether these patients are receiving appropriate high-risk patients.
screening for the other associated cancers, such as pancreatic It is important to note that some NCCN recommendations
or colorectal cancer. include consideration of additional screening or risk-reduction
Patients had higher rates of adherence for breast cancer surgery, which allows for patient and provider variation. We
screenings over pancreatic cancer screenings. This is sur- assessed if a patient underwent a risk-reduction surgery;
prising, as breast cancer screenings require annual imaging however, we recognize that the NCCN guidelines include
while pancreatic cancer screenings do not. Colorectal cancer recommendations for the consideration of surgery based on
screening for CHEK2 also had high rates of adherence, despite family history. While patients with a family history may un-
being a repeated screening tool. While it cannot be deter- dergo RRM at higher rates, there are patients who choose to
mined by this retrospective study, patient understanding of undergo RRM even without a family history.10-12 Although we
mammography or colonoscopy may be higher than MRCP or did not include this analysis in our study, these conversations
EUS, and there have been large public education pushes for are an important part of cancer risk management on an in-
breast cancer and colorectal cancer, which may influence a dividual basis, involving complex decision-making for both
patient’s decision to pursue screening. Additionally, breast patient and provider.10 It is important for providers to provide
and colorectal cancers require screening for patients even clear communication regarding risks and benefits, as patients
without a hereditary gene mutation; therefore, a patient may note confusion regarding guidelines when they are more
understand the recommendations for screening even if they complex, as may be the case for some of the moderate pene-
do not consider themselves at increased risk. trance genetic mutations.13 As NCCN guidelines change and
Patient education, empowerment, and perception of their become more explicit over time, it can allow for more clear
cancer risk are important aspects of how well they will adhere conversations with patients regarding their specific risk fac-
to provider recommendations. In a telephone survey of self- tors. This clarification of guidelines may improve adherence
reported adherence to breast cancer screening for patients over time but is unable to be evaluated in this study.
with BRCA, more adherent patients reported their perceived Limitations of this study include that it focuses on the
risk of cancer, and the experience of family members practice patterns of a single tertiary care center in an urban
with cancer influences their adherence.5-7 Fertility and environment, which may not be generalizable to all in-
breastfeeding concerns impacted their decision to forego risk- stitutions. Not all institutions have the resources for a genetic
reduction surgery.5 Older age, young children, and the counseling center, which is available at the study site. Addi-
number of family members with cancer have also been noted tionally, the majority of patients in this study were White,
to improve adherence.5,6 In our study, older age was associ- non-Hispanic women with private insurance, which may not
ated with improved adherence for breast cancer screening. A be applicable to all institutions. Many providers in this insti-
diagnosis of a genetic mutation has also been shown to in- tution, particularly those participating in cancer care, are
crease adherence to appropriate colonoscopies.8 Even if pa- fellowship-trained specialists, and all have access to genetic
tients report understanding of the genetic mutation and their counselors, which may not be the case for all centers. Patients
personal risk for cancer, many patients report seeking addi- may have undergone screening at a different facility, although
tional information and resources beyond the provider.9 A in many instances this screening was accessible by our
patient who recognizes their increased risk may be more institution and was included in analysis. However, it is not
likely to ensure they receive screening, independent of the possible to confirm if patients considered nonadherent were
provider. not receiving appropriate screening elsewhere but results
While patient responsibility can influence adherence, were unavailable. As discussed, patient perception of their
providers are necessary to provide education and order the cancer risk influences adherence to screening. The majority of
necessary tests. It is often the genetic counselor who has the patients in this study had a personal history of cancer, which
initial conversation with each patient to explain the screening may influence adherence rates and limit generalizability to all
guidelines; however, the genetic counselor must rely on other patients. Finally, this study period overlapped with the Covid-
providers to order the screening. This communication is an 19 pandemic, which slowed screening practices nationally
area with the potential to target for streamlined protocols. and may have influenced our data.14,15
Strengths of this study include a patient-specific analysis 2. Hudson L, Gower N, Lenarcic S, Trufan SJ, White RL.
of screening adherence, particularly with regards to oncologic Radiographic surveillance of patients with non-BRCA1/2
history. As a retrospective chart review, we are able to exclude pathogenic variants. Ann Surg Oncol. 2020;27:2248e2254.
3. Daly MB, Pal T, Buys SS, et al. NCCN guidelines index table of
patients with relevant cancer histories and more accurately
contents genetic/familial high-risk assessment: breast,
assess adherence rates beyond age. Although the studied ovarian, and pancreatic discussion. Risk Assess.
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Sciencedirect: Screening Practices For Breast and Nonbreast Cancers in High-Risk Mutation Carriers

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Sciencedirect: Screening Practices For Breast and Nonbreast Cancers in High-Risk Mutation Carriers

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journal homepage: www.JournalofSurgicalResearch.com

Association for Academic Surgery

Screening Practices for Breast and Nonbreast

Alison C. Coogan, MD,a,* Lilia G. Lunt, MD,a Sarah S. Keshwani, MD,a

article info abstract

Introduction for tests or referrals. Appropriate patients are enrolled in our

Table 1 e Summary of 2021 NCCN screening guidelines.

All ages reported in years.

Results Breast and ovarian cancer screening

Table 2 e Patient characteristics by genetic mutation.

N (%) N (%) N (%) N (%) N (%) N (%) N (%) N (%)

N (%) N (%) N (%) N (%) N (%) N (%) N (%)

aOR 95% CI P value aOR 95% CI P value aOR 95% CI P value

Table 5 e Pancreatic cancer screening for qualified patients.

N (%) N (%) N (%) N (%)

aOR 95% CI P value aOR 95% CI P value

The minority of patients received pancreatic cancer screening

Providers may also differ on who should be ordering these

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