[醫如往常] Senior Clerkship Day 96: Lab Medicine: ERCA mutation

ERCA mutation molecular diagnosis 俞教授

Ovarian cancer 2nd most common

15% familial BRCA1, 2

No hot spot

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BRCAness phenotype

Platinum

PARP inhibitor

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Oraparib 亞洲上市

台灣沒有

Hazard ratio 0.35

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>3000 kinds

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Germline 18%

Somatic 7% both alleles mutation in cancer cells

• Mutation >50%
• Wild type homozygous mutations

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Capture-based method (ion torrent)

Long range PCR， 分成十段overlap 10k segments

Singapore也要送臺灣做NGS

台灣可以做tissue, 很先進

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大部分用MiSeq

Illumina 只能用blood, 不能tissue

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Setup of BRCA Database

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Founder mutation

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五階mutation

1. Pathogenic 用藥很有效
2. Pathogenic-like
3. Variant of uncertain genecity 人數最多
4. Non-pathogenic
5. Normal-like

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BRCA functional mutation: positive

Other mutation 只能註記有

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之後主流

Immunooncology (IO)

Head and neck, 人數跟lung相當

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IHC Synchronization也是努力的目標

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研究比較有信譽

• 中科院
• 浙江
• 華西
• 復旦

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協和沒有Protocol

data就出來了

data跟西方一模一樣

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