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Add additional clinical outcome relevant data to models #1070

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zperova opened this issue Feb 10, 2023 · 1 comment
Open
4 tasks

Add additional clinical outcome relevant data to models #1070

zperova opened this issue Feb 10, 2023 · 1 comment
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@zperova
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zperova commented Feb 10, 2023

Description

As a user, I want to understand the usability of models based on additional markers, such as

tumor mutational burden (TMB)
The total number of mutations (changes) found in the DNA of cancer cells. Knowing the TMB may help plan the best treatment. For example, tumors that have a high number of mutations appear to be more likely to respond to certain types of immunotherapy. TMB is being used as a type of biomarker. Also called tumor mutational burden.

DNA mismatch repair (MMR)
mismatch repair deficiency
Describes cells that have mutations (changes) in certain genes that are involved in correcting mistakes made when DNA is copied in a cell. Mismatch repair (MMR) deficient cells usually have many DNA mutations, which may lead to cancer. MMR deficiency is most common in colorectal cancer, other types of gastrointestinal cancer, and endometrial cancer, but it may also be found in cancers of the breast, prostate, bladder, and thyroid. MMR deficiency may also be found in an inherited disorder called Lynch syndrome. Knowing if a tumor is MMR deficient may help plan treatment or predict how well the tumor will respond to treatment.

Microsatellite instability (MSI)
A change that occurs in certain cells (such as cancer cells) in which the number of repeated DNA bases in a microsatellite (a short, repeated sequence of DNA) is different from what it was when the microsatellite was inherited. MSI may be caused by mistakes that don’t get corrected when DNA is copied in a cell. It is found most often in colorectal cancer, gastric cancer, and endometrial cancer, but it may also be found in many other types of cancer. Knowing whether a cancer has MSI may help plan the best treatment. Also called microsatellite instability.

HLA typing
Human Leukocyte Antigen (HLA) is a highly polymorphic region composed of several genes involved in immune regulation. HLA typing is the characterization of this set of genes and is a valuable tool for targeting recurrent mutations and hotspot sites implicated in cancer pathogenesis. This method is also used to match donor and patient before solid organ or allogenic stem cell transplants, often used to treat cancers such as leukemia, lymphoma, multiple myeloma, and neuroblastoma.

Acceptance criteria

  • TMB status available at the model level
  • MMR status available at the model level
  • MSI status available at the model level
  • HLA status available at the model level
@zperova
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zperova commented Feb 10, 2023

need to split into separate tickets

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