Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics

Cancer ◽  
2021 ◽  
Author(s):  
Brittany L. Bychkovsky ◽  
Min‐Tzu Lo ◽  
Amal Yussuf ◽  
Carrie Horton ◽  
Marcy Richardson ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Multiple Primary Cancers ◽  
Pathogenic Variants ◽  
Multiple Primary

Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10595-10595
Author(s):  
Brittany L. Bychkovsky ◽  
Min-Tzu Lo ◽  
Yuan Tian ◽  
Amal Yussuf ◽  
Carrie Horton ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cancer Diagnosis ◽  
Age At Diagnosis ◽  
Multiple Primary Cancers ◽  
Cancer Type ◽  
Exact Test ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Multiple Primary ◽  
Brca1 Brca2

10595 Background: Multiple primary cancers (MPCs) are a hallmark of cancer predisposition syndromes. We aim to characterize the frequency of germline pathogenic/likely pathogenic variants (PVs) among patients with MPCs. Herein we report the frequency of PVs by sex, number of cancers and age at diagnosis among a laboratory-based cohort of patients with MPCs. Methods: Patients with MPCs who underwent germline genetic testing with Ambry Genetics from 3/2012 to 12/2016 were included in our cohort. Eligible individuals had multigene panel testing, which included 21 genes, at minimum: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, and TP53. Clinical factors including age at diagnosis, age at testing and cancer type were obtained from test requisition forms and clinical notes. Patients with > 1 PVs were excluded from the analysis. Using Rv.3.3.3., the frequencies of PVs by sex, number of cancers and age at diagnosis were compared using two-sided χ2 tests or Fisher’s exact test when the number was < 10. Results: Of the 9820 patients with MPCs tested for the 21 genes above, 104 (1.1%) had multiple PVs and were excluded. Among the remaining 9716 patients in the analytic cohort, most were female (91.1%) and white (71.0%). The median age at testing was 63 years (IQR: 16) and the median ages of first and second cancer diagnosis were 49 (IQR: 18) and 58 (IQR: 17) years, respectively. Overall, 1406 (14.5%) were found to have PVs: 14.3% of females and 16.2% of males. The prevalence of PVs increased with the number of primary cancers (PCs) as follows, 2 PCs: 13.1% (95% CI:12.4-13.8%), 3 PCs: 15.9% (95% CI:14.0-18.0%), >4 PCs: 18.0% (95% CI:13.7-23.3%), (p < 0.01). Among patients with 2 PCs (n = 8145), differences in the prevalence of PVs by age at diagnosis were significant: 2 PCs diagnosed at an age < 50 (13.5%, 95% CI:12.0-15.1%), 1 PC diagnosed at an age < 50 (14.8%, 95% CI:13.4-16.5%), 2 PCs diagnosed at age >50 years (12.1%, 95% CI: 11.1-13.2%), (p = 0.01). PVs were most frequently identified in: BRCA2 (2.2%) BRCA1 (2.0%), CHEK2 (1.9%) and ATM (1.5%). There were also significant differences in the frequencies of PVs in BRCA1, BRCA2 and MLH1 by sex (p < 0.05). Conclusions: These data demonstrate a high frequency of germline PVs among both males and females with MPC. The frequency of PVs was higher among patients with a higher number of PCs. Differences in the prevalence of PVs by age at cancer diagnosis while significant, were not meaningful as 12.1% of individuals with 2 PCs diagnosed at age >50 years had germline PVs. Limitations include the homogenous testing population (predominately female and white) and small numbers in some patient categories. These data may aid in counseling patients with MPCs and their families as well as encourage less restrictive genetic testing of this population. Further analysis of PV frequencies by specific cancer combinations was conducted and will follow.

scholarly journals Clinical Characteristics and Prognosis Associated with Multiple Primary Cancers in Breast Cancer Patients

2018 ◽  
Vol 21 (1) ◽  
pp. 62 ◽  
Author(s):  
Bong Kyun Kim ◽  
Se Jeong Oh ◽  
Jeong-Yoon Song ◽  
Han-Byoel Lee ◽  
Min Ho Park ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Clinical Characteristics ◽  
Multiple Primary Cancers ◽  
Breast Cancer Patients ◽  
Multiple Primary

Diagnosis and Treatment of Multiple Primary Cancers of the Cervicofacial and Esophageal Regions

2011 ◽  
Vol 62 (2) ◽  
pp. 158-158
Author(s):  
S. Ohta ◽  
Y. Nakajima ◽  
T. Okada ◽  
Jirawat Swangsri ◽  
A. Hoshino ◽  
...  
Keyword(s):  
Diagnosis And Treatment ◽  
Multiple Primary Cancers ◽  
Multiple Primary

scholarly journals Multiple Primary Cancers in a Case of Chronic Arsenic Poisoning

1990 ◽  
Vol 12 (1) ◽  
pp. 89-99
Author(s):  
Akihide TANIMOTO ◽  
Tetsuo HAMADA ◽  
Hikaru KANESAKI ◽  
Kohji MATSUNO ◽  
Osamu KOIDE
Keyword(s):  
Multiple Primary Cancers ◽  
Arsenic Poisoning ◽  
Multiple Primary ◽  
Chronic Arsenic Poisoning

Multiple Primary Cancers in Patients Undergoing Tumor-Normal Sequencing Define Novel Associations

2021 ◽  
pp. cebp.EPI-21-0820-A.2021
Author(s):  
Ying L Liu ◽  
Karen A Cadoo ◽  
Semanti Mukherjee ◽  
Aliya Khurram ◽  
Kaitlyn Tkachuk ◽  
...  
Keyword(s):  
Multiple Primary Cancers ◽  
Multiple Primary ◽  
Novel Associations
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