Referral to a clinical genetics service or familial cancer centre for assessment should be considered for all people meeting the categories below:
| Pathogenic variant identified in the family |
| Untested adult blood relative of a person with an identified pathogenic variant in a skin tumour predisposition gene (e.g. CDKN2A, BAP1, FH, FLCN, STK11, PTCH1, SUFU, PTEN, NF1, MMR gene) |
| Melanoma |
| An affected individual with multiple primary melanomas diagnosed under age 40 yearsr |
|
An affected individual diagnosed under age 45 years with:
- 2 or more, first or second degree blood relatives on the same side of the family affected with cutaneous malignant melanoma (CMM) OR
- a personal/family history of pancreatic cancer
|
| An affected individual with 2 or more BAP1-tumour predisposition syndrome (BAP1-TPDS) tumours – refer to BIMT below |
| Implicated gene: CDKN2A, BAP1 |
| BIMT (atypical Spitz tumour)r |
|
An individual with 2 or more BAP1-TPDS tumours*
- BIMT (BAP1-inactivated melanocytic tumours)
- uveal melanoma (UM)
- cutaneous melanoma (CM)
- malignant mesothelioma
- renal cell carcinoma (RCC)
- rhabdoid meningioma
|
| An affected individual with a first or second degree relative with a confirmed BAP1-TPDS tumour |
| Implicated gene: BAP1 |
* Excluding 2 or more CM given the general population frequency
| Cutaneous leiomyoma |
| An individual with multiple cutaneous leiomyomas (at least one histopathologically proven) |
|
An individual with one cutaneous leiomyoma AND
- renal cell carcinoma (RCC) OR
- multiple symptomatic uterine leiomyomas OR
- first degree relative with a HLRCC-associated tumour
|
| Implicated gene: FH |
| Fibrofolliculoma and/or trichodiscoma |
| An individual with at least 2 cutaneous papules clinically consistent with fibrofolliculoma/trichodiscoma (at least one histologically confirmed fibrofolliculoma) |
|
An individual or family with a combination of cutaneous manifestation AND
- multiple basal pulmonary cysts with/without spontaneous pneumothorax OR
- early onset renal tumour (<50 years) or multifocal or bilateral renal tumours
|
| Implicated gene: FLCN |
| Hyperpigmented macules |
| Consider referral in children and adolescents without added features |
|
An individual with characteristic** mucocutaneous pigmentationr AND
- family history of Peutz-Jeghers syndrome (PJS) in a close relative OR
- confirmed PJS-type hamartomatous polyp
|
| Implicated gene: STK11 |
** Dark blue to dark brown mucocutaneous macules around the mouth, eyes, nostrils, perianal area and buccal mucosa; hyperpigmented macules on fingers; rarely present at birth, becomes pronounced before the fifth year but then may fade in puberty and adulthood
| Basal cell carcinoma (BCC) |
| Metastatic BCC (regardless of age) |
| Five or more BCCs (regardless of age) with another feature of Gorlin syndrome |
| BCC diagnosed under age 30 years |
| Implicated gene: PTCH, SUFU |
| Café-au-lait macules |
| Consider referral in children and adolescents without added features |
|
An individual with 6 or more café-au-lait macules# AND
- >2 neurofibromas OR
- freckling in the axillary or inguinal region OR
- optic glioma OR
- >2 Lisch nodules OR
- distinctive osseous lesion (sphenoid dysplasia or tibial pseudoarthrosis) OR
- first degree relative with neurofibromatosis type 1 (NF1)
|
|
An individual with 2 or more hyperpigmented or hypopigmented skin lesions (>1cm) AND
- personal diagnosis of any malignant diagnosis <18 years OR
- multiple adenomas or one high grade dysplastic adenoma <25 years OR
- family history of any Lynch syndrome-associated cancers^ in a first or second degree relative <60 years
|
| Implicated gene: NF1, MMR genes (MLH1, MSH2, MSH6, PMS2, EPCAM) |
# 5mm in greatest diameter (prepubertal) 15mm in greatest diameter (post pubertal)
^ Lynch syndrome-associated cancers include adenocarcinoma of the colorectum, endometrium, small intestine, stomach, ovary, or pancreas, urothelial carcinoma of the ureter or renal pelvis, cholangiocarcinoma, brain tumour, sebaceous gland tumour
| Sebaceous adenomar |
| Multiple sebaceous adenomas with loss of staining for mismatch repair (MMR) protein (regardless of age) |
| Sebaceous carcinoma with loss of staining for mismatch repair (MMR) protein (regardless of age) |
|
An individual with one sebaceous adenoma with loss of staining for mismatch repair (MMR) protein AND two of the followingr
- under age 60 years
- personal history of any Lynch syndrome-associated cancers^
- family history of any Lynch syndrome-associated cancers^
|
| Implicated gene: MMR genes (MLH1, MSH2, MSH6, PMS2, EPCAM) |
^ Lynch syndrome-associated cancers include adenocarcinoma of the colorectum, endometrium, small intestine, stomach, ovary, or pancreas, urothelial carcinoma of the ureter or renal pelvis, cholangiocarcinoma, brain tumour, sebaceous gland tumour
| Trichilemmomas or acral keratosis |
|
An individual with 3 or more trichilemmomas or acral keratosis AND features of PTEN-hamartoma tumour syndrome including but not limited to:
- gastrointestinal hamartoma (3 or more) (excluding hyperplastic polyps)
- macrocephaly
- endometrial cancer
- thyroid carcinoma (especially follicular)
- oral papilloma (3 or more)
|
| Implicated gene: PTEN |