Publications:

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology

Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO

Publication Date: 2022-12-22

Variant appearance in text: MSH6: 1102G>T; E368*

PubMed Link: 36550560

Variant Present in the following documents:

• 13059_2022_2839_MOESM4_ESM.xlsx, sheet 1

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Circulating tumor DNA (ctDNA) serial analysis during progression on PD-1 blockade and later CTLA-4 rescue in patients with mismatch repair deficient metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer

Kasi, Pashtoon Murtaza PM; Budde, Griffin G; Krainock, Michael M; Aushev, Vasily N VN; Koyen Malashevich, Allyson A; Malhotra, Meenakshi M; Olshan, Perry P; Billings, Paul R PR; Aleshin, Alexey A

Publication Date: 2022-01

Variant appearance in text: MSH6: E368*

PubMed Link: 35101943

Variant Present in the following documents:

• Main text
• jitc-2021-003312.pdf

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Circulating tumor DNA (ctDNA) serial analysis during progression on PD-1 blockade and later CTLA-4 rescue in patients with mismatch repair deficient metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer

Kasi, Pashtoon Murtaza PM; Budde, Griffin G; Krainock, Michael M; Aushev, Vasily N VN; Koyen Malashevich, Allyson A; Malhotra, Meenakshi M; Olshan, Perry P; Billings, Paul R PR; Aleshin, Alexey A

Publication Date: 2022-01

Variant appearance in text: MSH6: E368*

PubMed Link: 35101943

Variant Present in the following documents:

• Main text
• jitc-2021-003312.pdf

View BVdb publication page

Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Salvador, Monalyn U MU; Truelson, Melissa R F MRF; Mason, Carla C; Souders, Beth B; LaDuca, Holly H; Dougall, Brittany B; Black, Mary Helen MH; Fulk, Kelly K; Profato, Jessica J; Gutierrez, Stephanie S; Jasperson, Kory K; Tippin-Davis, Brigette B; Lu, Hsiao-Mei HM; Gray, Phillip P; Shah, Swati S; Chao, Elizabeth C EC; Ghahramani, Negar N; Landsverk, Megan M; Gau, Chia-Ling CL; Chen, Daniel D; Pronold, Melissa M

Publication Date: 2019-03-10

Variant appearance in text: MSH6: E368*

PubMed Link: 30702970

Variant Present in the following documents:

• JCO.18.00696.pdf

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