Unusual prevalence of cancer genetic mutations in a cohort of predominantly non-Caucasian cancer patients.

Authors

null

Nay Yee Wint Kyaw

Maimonides Medical Center, Brooklyn, NY

Nay Yee Wint Kyaw , Vijaya Natarajan , Theresa Durana , Pooja Gogia Bhasin , Jacob Best , Sudhamshi Toom , Yiqing Xu

Organizations

Maimonides Medical Center, Brooklyn, NY, Maimonides Cancer Center, Brooklyn, NY

Research Funding

No funding received

Background: Genetic testing has been applied increasingly widely in oncology, as detection of hereditary cancer syndromes can guide prophylactic surgery, intensive surveillance and family member testing. We hypothesized that the profile of mutation prevalence may be different from the general knowledge in patients with immigrant background. Methods: Cancer patients who have been treated in Maimonides hospital and have had a genetic test performed between 1/1/2010 until 1/31/2022 were eligible. Patients were randomly approached for consenting for the study. The results from the first 122 patients enrolled in this study were analyzed. Results: Among 122 patients, there were 86 breast, 22 GYN, 8 GI, 5 GU and 1 lung cancer. The ethnicities were African American (n = 38), Asian (n = 36), Caucasian (n = 32), Hispanic (n = 10) and mixed races (n = 6). Six patients had 2 primary cancers and 2 patients had 3 primary cancers. 25 patients (20.49 %) had germline mutations. A complete list of cancer type, mutation type, age of onset and cancer characteristics is shown in the table below. All of the 13 mutation positive breast cancer patients met the NCCN criteria for genetic testing, including 7 for age < 50 and 6 with family history of breast cancer. Among the 2 patients with NF1 mutation, one had no skin change while the other had neurofibromatosis; both had family history, with pancreatic or breast cancer respectively. The patient with APC mutation had family history of numerous cancers including gastric, but no colon cancer. 48% patients had the onset of disease at older than 50 years old. Conclusions: In this multi-ethnicity cohort, 20.49% mutations were detected in patients who met the genetic testing criteria. A higher prevalence of BRCA 2 were found in both breast and ovarian cancer patients, and rare mutations of NF1, APC, FH and ATM were also detected. A large percentage had onset at an older age. More studies should be done in communities enriched with immigrants to gather further knowledge of unusual prevalence of genetic mutations, and an extensive panel for gene testing should be offered.

Type of cancer
Total no of patients
Positive mutations
Type of mutation
No of pts with positive mutations
Age at diagnosis
Characteristics
Breast cancer

only
83
10
BRCA 2

NF1

BRIP1

PALB2


7

1

1

1


31-85

85

62

52




ER+HERneg

ER/PR/Her2 ?

ER/PR/Her2 ?


Left Breast +

Rt breast
2
2
NF1

BRCA2
1

1
48

50
ER/PR/Her2 ?

ER/PR/Her2 ?


Breast+Colon
1
1
APC
1
71
ER/PR+Her2 ?


Ovarian cancer

only
19
4
BRCA 1

BRCA 2


1

3


44

53-78

Ovary + Breast
1
1
BRCA 1 MUTYH
1
40
ER/PR/Her2 ?


Ovary + uterus
1
1
MSH2
1
41
Endometroid for both
Ovary+breast+

thyroid
1
1
RAD51D
1
63

Colon only
6
1
MSH2
1
49

Colon + medullary thyroid
1
1
RET
1
54

Colon+Rectum+

thymoma
1
1
MLH1
1
39

Genitourinary

Kidney
3

1


1


FH*




1


41

Prostate
1
1
ATM
1
59

*FH -fumarate hydratase mutation.

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Abstract Details

Meeting

2022 ASCO Annual Meeting

Session Type

Publication Only

Session Title

Prevention, Risk Reduction, and Hereditary Cancer

Track

Prevention, Risk Reduction, and Genetics

Sub Track

Germline Genetic Testing

Citation

J Clin Oncol 40, 2022 (suppl 16; abstr e22524)

DOI

10.1200/JCO.2022.40.16_suppl.e22524

Abstract #

e22524

Abstract Disclosures

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