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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Identification of
PALB2
variants and asso ...
Identification of
PALB2
variants and associated cancers in a large, unselected healthcare population
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Pdf Summary
A study analyzed data from the Geisinger MyCode Genomic Screening and Counseling Program to understand the association between PALB2 variants and cancer risk in an unselected cohort. PALB2 variants were identified in 1 in 943 adult MyCode participants. The study found that PALB2 variants were associated with a higher odds of female breast and pancreatic cancers, supporting the increased risk for these cancers. Variant-positive females were diagnosed with breast cancer at a younger age compared to variant-negative individuals. The frequency of breast cancer in PALB2 variant-positive females was similar to that of BRCA1/2 variant-positive female participants. The study suggests that PALB2 should be included in genomic screening approaches, similar to BRCA1/2. The authors acknowledge the need for further assessments of risks and the impact of result disclosure on management and outcomes.<br /><br />The study leveraged the Geisinger MyCode Community Health Initiative to assess PALB2 cancer rates in an unselected healthcare population. The data showed that PALB2 variant-positive individuals had a higher risk of breast, pancreatic, and ovarian cancers compared to variant-negative individuals. However, there was no clear evidence of increased risk for prostate cancer. The study utilized a biobank of blood and other samples from consenting participants linked to electronic health record (EHR) data. EHR extraction algorithms demonstrated high sensitivity and specificity. The association between PALB2 variants and cancer diagnoses, as well as the age of cancer diagnosis, was assessed.<br /><br />In conclusion, the study highlights the increased risk of breast and pancreatic cancers associated with PALB2 variants in an unselected cohort. The findings support the inclusion of PALB2 in genomic screening efforts and emphasize the importance of further research to better understand the risks and management of PALB2-associated cancers.
Asset Subtitle
Presenting Author - Juliann M. Savatt, MS, CGC; Co-Author - Hermela Shimelis, PhD; Co-Author - Adam H. Buchanan, MS, MPH, CGC; Co-Author - Melissa A. Kelly, MS, CGC; Co-Author - Natasha T. Strande, PhD;
Meta Tag
Cancer Syndromes
Phenotype
Population Genetics
Co-Author
Hermela Shimelis, PhD
Co-Author
Adam H. Buchanan, MS, MPH, CGC
Co-Author
Melissa A. Kelly, MS, CGC
Co-Author
Natasha T. Strande, PhD
Presenting Author
Juliann M. Savatt, MS, CGC
Keywords
Geisinger MyCode
Genomic Screening
Cancer Risk
PALB2 Variants
Breast Cancer
Pancreatic Cancer
Ovarian Cancer
BRCA1/2 Variants
Genomic Screening Approaches
PALB2-associated Cancers
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