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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