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| Inherited ovarian cancer (without breast cancer) v2.24 | PALB2 | Arina Puzriakova Tag for-review was removed from gene: PALB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.24 | PALB2 | Arina Puzriakova edited their review of gene: PALB2: Added comment: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It was agreed that there is enough evidence to rate this gene as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.23 | PALB2 |
Arina Puzriakova Source Expert Review Green was added to PALB2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Inherited ovarian cancer (without breast cancer) v2.5 | PALB2 | Arina Puzriakova Tag for-review tag was added to gene: PALB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.5 | PALB2 | Arina Puzriakova changed review comment from: Comment on list classification: Kept rating Red, as it remains unclear whether the risk is sufficiently high to warrant the inclusion of PALB2 in the ovarian cancer gene panel.; to: Comment on list classification: Kept rating Red, but this gene will be flagged for review (added 'for-review' tag) at the next GMS panel update to assess whether the risk is sufficiently high to warrant inclusion of PALB2 on the ovarian cancer gene panel in the context of two recent publications (PMIDs: 31841383 and 32546565) identified by the expert reviewer. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.5 | PALB2 |
marc tischkowitz commented on gene: PALB2: From the key paper (Yang 2020): Table 3 - 16% risk to age 80 ( 95% CI 8-28%) if 2 first degree relatives affected at age 50, 11% risk to age 80 (95% CI 6-21) if mother and maternal grandmother diagnosed at age 50. Therefore clinically actionable if there is a strong family history. This paper and that of Song 2020 supersede previous published studies which are based on many fewer cases. |
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| Inherited ovarian cancer (without breast cancer) v2.5 | PALB2 | Arina Puzriakova Publications for gene: PALB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.4 | PALB2 | Arina Puzriakova Classified gene: PALB2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.4 | PALB2 | Arina Puzriakova Added comment: Comment on list classification: Kept rating Red, as it remains unclear whether the risk is sufficiently high to warrant the inclusion of PALB2 in the ovarian cancer gene panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.4 | PALB2 | Arina Puzriakova Gene: palb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.3 | PALB2 | Arina Puzriakova reviewed gene: PALB2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.3 | PALB2 | marc tischkowitz reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 31841383: PMID: 32546565; Phenotypes: breast cancer, ovarian cancer, pancreatic cancer; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||