Familial melanoma (FAMMM) and Familial pancreatic cancer (PaCa)

FAMMM:   Familial melanoma (previously called: Familial Atypical Multiple Mole-Melanoma) and uveal melanoma

PACA         Familial pancreatic cancer / Familial Atypical Multiple Mole-Melanoma Pancreatic Cancer (FAMMMPC)

FAMMM : OMIM, 155600 en 155720

Gene

Techniques

CDKN2A

-Sequence analysis of the entire coding region exons 1A, 1B en 2 and 3 including intron/exon junctions.

-MLPA (MRC-Holland kit ME024-A1) to detect deletions and duplications in CDKN2A gene region

CDK4

-Sequence analysis from exon 2

POT1

-Sequence analysis of the entire coding region, exons 5 to 19, including intron/exon junctions.

BAP1

- Sequence analysis of the entire coding region, exon 1 t/m exon 17, inclusief exon/intron overgangen

ACD

- Sequence analysis of the entire coding region, exon 1 t/m exon 12, inclusief exon/intron overgangen

TERF2IP

- Sequence analysis of the entire coding region, exon 1 t/m exon 3, inclusief exon/intron overgangen

TERT (Prom)

- Sequence analysis of promoter region including known pathogenic mutation c.-57A>C.

MITF

- Sequence analysis of risic factor/variant c.952G>A

PACA: OMIM, 606719

ATM

- Sequence analysis of the entire coding region(exon 2 t/m 63) including intron/exon junctions.

CDKN2A

-Sequence analysis of the entire coding region(exon 1A, 1B en 2 t/m 3) including intron/exon junctions.

BRCA1

- Sequence analysis of the entire coding region, exon 2 t/m 3 en 5 t/m 24 including intron/exon junctions.

BRCA2

- Sequence analysis of the entire coding region, exon 2 t/m 27, including intron/exon junctions.

PALB2

- Sequence analysis of the entire coding region, exon 1 t/m exon 13, including intron/exon junctions.

Procedure :  FAMMM ( Familial melanoma and uveal melanoma)

-        Upon request for confirmation diagnosis FAMMM ( Familial melanoma ) we can perform sequence analysis of all indicated genes above by performing NGS mediated genepanel sequencing analysis. (see our request form for Molecular genetic testing: Melanomapanel)  

-        Sequence analysis for several genes can be requested separately per gene. Including: CDKN2A, CDK4, BAP1, POT1 and MITF risk factor c.952G>A

-        Upon request for confirmation diagnosis Uveal melanoma we can perform sequence analysis for the BAP1 gene including CNV detection using MLPA test.

-        Requests for confirmation diagnosis FAMMM ( Familial melanoma )   always include a MLPA test for detection deletions /duplications in CDKN2A and CDK4 gene

Procedure :  PACA (Familiaire Pancreascarcinoom)

-        Upon request for confirmation diagnosis Familial pancreatic cancer we can perform sequence analysis of all indicated genes above (at PACA) by performing NGS mediated genepanel sequencing analysis (IDP sure select kit). (see our request form for Molecular genetic testing: PACA panel)  

-        Sequence analysis of only the CDKN2A gene (including MLPA test)  can also be requested at the general code FAMMM by indicating confirmation diagnosis Familial pancreatic cancer.

Gene

Gene product

Core$

Locus

Inheritance

OMIM number

Reference Sequence

ACD

ACD/ PIP1

no

16q22.1

Autosomal dominant

609377

NC_000016.9, NM_001082486.1

ATM

ATM

yes

11q22.3

Autosomal dominant

607585

NC_000011.10  , NM_000051.3

BAP1

BAP1

yes

3p21.1

Autosomal dominant

603089

NC_000003.11, NM_004656.3

BRCA1

BRCA1

yes

17q21

Autosomal dominant

113705

NC_000017.10, NM_007294.3

BRCA2

BRCA2

yes

13q12.3

Autosomal dominant

600185

NC_000013.10, NM_000059.3

CDK4

CDK4

yes

12q14

Autosomal dominant

123829

NC_000012.11, NM_000075.2

CDKN2A

CDKN2A

yes

9p21

Autosomal dominant

600160

NC_000009.11, NM_000077.4 (p16) en  NM_058195.3 (p14ARF)

MITF

MITF: c.952G>A

nee

3p13 

Risk factor

156845

NC_000003.11, NM_000248.3

PALB2

PALB2

yes

16p12.2

Autosomal dominant

610355

NM_024675.3

POT1

POT1

(yes)

7q31.33

Autosomal dominant

606478

NC_000007.13, NM_015450.2

TERF2IP

TERF2IP

No

16q23.1

Autosomal dominant

605061

NC_000016.9 , NM_018975.3

TERT

TERT (Prom)

no

5p15.33 

Autosomal dominant

187270

NC_000005.9 , NM_198253

$ Core Genes will always include the complete sequence analysis of all coding regions.

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Laboratory turnaround times