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  2. Inherited pancreatic cancer
The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Inherited pancreatic cancer (Version 3.2)

Level 2: Inherited cancer

Relevant disorders: R367
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v3.0 (30 Apr 2025)
Previously signed off versions: v2.0, v1.2
Description
This panel is used for clinical indication 'R367 Inherited pancreatic cancer' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R367 Inherited pancreatic cancer'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.
Panel Activity

9 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rachel Robinson (Leeds Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Clare Turnbull (Queen Mary University London)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Terri McVeigh (Royal Marsden NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Lara Hawkes (Genomics England)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

13 Entities

13 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
13 Entitiess
Green List (high evidence)
ATM
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Breast, prostate, pancreatic cancer predisposition
  • recessive trait for ataxia telangiectasia
Tags
Green List (high evidence)
BRCA1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Pancreatic cancer, susceptibility to, 4}, OMIM:614320
  • Pancreatic cancer, susceptibility to, 4, MONDO:0013685
Tags
Green List (high evidence)
BRCA2
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Pancreatic cancer 2}, OMIM:613347
  • Pancreatic cancer, susceptibility to, 2, MONDO:0013235
Tags
Green List (high evidence)
CDKN2A
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Melanoma-pancreatic cancer syndrome}, OMIM:606719
  • Melanoma-pancreatic cancer syndrome, MONDO:0011713
Tags
Green List (high evidence)
PALB2
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Pancreatic cancer, susceptibility to, 3}, OMIM:613348
  • Pancreatic cancer, susceptibility to, 3, MONDO:0013236
Tags
Green List (high evidence)
STK11
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pancreatic cancer, somatic, OMIM:260350
  • familial pancreatic carcinoma, MONDO:0015278
Tags
Amber List (moderate evidence)
CDK4
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Malignant pancreatic neoplasm, MONDO:0009831
Tags
Amber List (moderate evidence)
MLH1
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Malignant pancreatic neoplasm, MONDO:0009831
Tags
Amber List (moderate evidence)
MSH2
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Malignant pancreatic neoplasm, MONDO:0009831
Tags
Amber List (moderate evidence)
MSH6
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Malignant pancreatic neoplasm, MONDO:0009831
Tags
Amber List (moderate evidence)
PMS2
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Malignant pancreatic neoplasm, MONDO:0009831
Tags
Amber List (moderate evidence)
PRSS1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Malignant pancreatic neoplasm, MONDO:0009831
Tags
Red List (low evidence)
RABL3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • {?Pancreatic cancer, susceptibility to, 5}, OMIM:618680
  • Pancreatic cancer, susceptibility to, 5, MONDO:0032867
Tags

Major version comments

  • 2025-04-30 16:37 Sarah Leigh (Genomics England Curator) promoted panel to 3.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

    2022-11-30 14:42 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

    2019-10-15 15:31 Rebecca Foulger (Genomics England curator) promoted panel to 1.0
    The content of this panel (version 0.42) was signed off under NHS Genomic Medicine Service governance on (15/10/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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