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Investigation of discordant sibling pairs from hereditary breast cancer families and analysis of a rare PMS1 variant.

Cancer genetics - 1 Jan 2022

Landry K K, Seward D J, Dragon J A, Slavik M, Xu K, McKinnon W C, Colello L, Sweasy J, Wallace S S, Cuke M, Wood M E

Abstract excerpt

BACKGROUND: It is likely that additional genes for hereditary breast cancer can be identified using a discordant sib pair design. Using this design we identified individuals harboring a rare PMS1 c.605G>A variant previously predicted to result in loss of function. OBJECTIVES: A family-based design and predictive algorithms were used to prioritize candidate variants possibly associated with an increased risk of...

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Algorithms
Breast Neoplasms
Exome Sequencing
Loss of Function Mutation
MutL Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neoplasm Proteins

Sequence Analysis, RNA

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PMID: 34852986
DOI: 10.1016/j.cancergen.2021.11.004

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