P059 Familial melanoma germline testing in a specialist dermatology genetics clinic Article Swipe

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Sarah Dawood , Christopher Walker , Yolanda Charamba , Hannah Musgrave , Rosalyn Jewell , Hayley Smith , Andrew Muinonen‐Martin , Angana Mitra ·

YOU? · · 2025 · Open Access · · DOI: https://doi.org/10.1093/bjd/ljaf085.087

Nearly 15% of melanomas occur in patients with a family history, and a subset of these have a germline mutation in a melanoma-predisposing gene (CDKN2A being the most common). In 2022, a strategy was outlined for embedding genomics in the National Health Service over 5 years, through upskilling of specialties to request genetic testing. Consequently, we set up a regional dermatology melanoma genetics clinic for diagnostic testing. Predictive testing remains under the remit of clinical genetics. We reviewed patients referred from January 2022 to November 2024. The UK National Genomic Test Directory criteria for familial melanoma (R254) include a panel of four genes: CDKN2A, CDK4, POT1 and BAP1 [NHS England. National Genomic Test Directory. Available at: https://www.england.nhs.uk/publication/national-genomic-test-directories (last accessed 12 February 2025)]. At the time of this study there were seven testing criteria, dependent on the number of melanomas in an individual or family, age at melanoma diagnosis, atypical moles, and pancreatic cancer. Specific testing for BAP1-associated tumour predisposition syndrome (R422) was dependent on the diagnosis of BAP1-related tumours. Overall, 107 patients (of the 109 referred) met the eligibility criteria for testing (57 female, 50 male; median age 59 years, range 24–89). Of these, 17 (16%) declined testing. The number of melanomas in an individual ranged from 0 to 10. The number of family members with melanoma ranged from 0 to 5. Most patients (46) had at least one family member with melanoma. In total, 92 patients were eligible for R254 testing. Results were available for 61 of 64 tested: 34% (21) of these met multiple eligibility criteria (at least two), of whom 52% (11) had a diagnosis of at least three melanomas. Diagnosis of at least three melanomas was the most common criterion met overall (46% of cases, 28). Nine patients (15%) tested positive (eight for CDKN2A and one for POT1) and one had a POT1 variant of uncertain significance. Five positive patients met multiple eligibility criteria, accounting for 23% (five of 21) of those meeting multiple criteria. Six of nine (67%) had at least three melanomas, and five of nine had a family history of melanoma. Three of 28 (11%) with at least three melanomas as the sole criterion had a positive germline result. Fifteen patients were eligible for R422 (BAP1 testing), of whom 13 were tested. Two patients had positive results, and both had more than one BAP1-inactivated skin lesion removed. In conclusion, almost 15% of those tested had a positive result for the familial melanoma panel, the majority had at least three melanomas, and more than half met multiple eligibility criteria. Further work is required to establish which criteria, either alone or in combination, are the most valuable in predicting positive tests. Dermatologists should be aware of familial melanoma testing criteria and referral to specialist dermatology genetics clinics for genetic counselling.

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Dermatology Medicine Germline Medical genetics Genetic testing Cancer genetics Genetics Germline mutation Melanoma Mutation Biology Internal medicine Cancer Cancer research Gene

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Type: article
Language: en
Landing Page: https://doi.org/10.1093/bjd/ljaf085.087
PDF: https://academic.oup.com/bjd/article-pdf/193/Supplement_1/ljaf085.087/63486276/ljaf085.087.pdf
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DOI: https://doi.org/10.1093/bjd/ljaf085.087

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Title: P059 Familial melanoma germline testing in a specialist dermatology genetics clinic

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Language: en

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Publication year: 2025

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Publication date: 2025-06-27

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Authors: Sarah Dawood, Christopher Walker, Yolanda Charamba, Hannah Musgrave, Rosalyn Jewell, Hayley Smith, Andrew Muinonen‐Martin, Angana Mitra

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Landing page: https://doi.org/10.1093/bjd/ljaf085.087

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Concepts: Dermatology, Medicine, Germline, Medical genetics, Genetic testing, Cancer genetics, Genetics, Germline mutation, Melanoma, Mutation, Biology, Internal medicine, Cancer, Cancer research, Gene

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abstract_inverted_index.5.	222
abstract_inverted_index.50	185
abstract_inverted_index.59	189
abstract_inverted_index.61	247
abstract_inverted_index.64	249
abstract_inverted_index.92	236
abstract_inverted_index.At	123
abstract_inverted_index.In	30, 234, 395
abstract_inverted_index.Of	193
abstract_inverted_index.UK	88
abstract_inverted_index.We	77
abstract_inverted_index.an	141, 204
abstract_inverted_index.as	358
abstract_inverted_index.at	146, 227, 270, 276, 335, 354, 414
abstract_inverted_index.be	449
abstract_inverted_index.in	6, 21, 39, 140, 203, 437, 443
abstract_inverted_index.is	428
abstract_inverted_index.of	3, 15, 49, 74, 101, 126, 138, 167, 201, 213, 248, 253, 262, 269, 275, 288, 309, 323, 325, 331, 341, 347, 350, 375, 399, 451
abstract_inverted_index.on	135, 164
abstract_inverted_index.or	143, 436
abstract_inverted_index.to	51, 84, 209, 221, 430, 458
abstract_inverted_index.up	58
abstract_inverted_index.we	56
abstract_inverted_index.(57	183
abstract_inverted_index.(at	259
abstract_inverted_index.(of	173
abstract_inverted_index.10.	210
abstract_inverted_index.107	171
abstract_inverted_index.109	175
abstract_inverted_index.15%	2, 398
abstract_inverted_index.21)	324
abstract_inverted_index.23%	321
abstract_inverted_index.34%	251
abstract_inverted_index.52%	264
abstract_inverted_index.Six	330
abstract_inverted_index.The	87, 199, 211
abstract_inverted_index.Two	380
abstract_inverted_index.age	145, 188
abstract_inverted_index.and	12, 107, 151, 299, 303, 339, 385, 418, 456
abstract_inverted_index.are	439
abstract_inverted_index.at:	116
abstract_inverted_index.for	36, 65, 94, 156, 181, 240, 246, 297, 301, 320, 371, 406, 463
abstract_inverted_index.had	226, 266, 305, 334, 343, 362, 382, 387, 402, 413
abstract_inverted_index.met	177, 255, 285, 315, 422
abstract_inverted_index.one	229, 300, 304, 390
abstract_inverted_index.set	57
abstract_inverted_index.the	27, 40, 72, 124, 136, 165, 174, 178, 281, 359, 407, 411, 440
abstract_inverted_index.was	34, 162, 280
abstract_inverted_index.(11)	265
abstract_inverted_index.(21)	252
abstract_inverted_index.(46%	287
abstract_inverted_index.(46)	225
abstract_inverted_index.2022	83
abstract_inverted_index.28).	290
abstract_inverted_index.BAP1	108
abstract_inverted_index.Five	312
abstract_inverted_index.Most	223
abstract_inverted_index.Nine	291
abstract_inverted_index.POT1	106, 307
abstract_inverted_index.R254	241
abstract_inverted_index.R422	372
abstract_inverted_index.Test	91, 113
abstract_inverted_index.[NHS	109
abstract_inverted_index.both	386
abstract_inverted_index.five	340
abstract_inverted_index.four	102
abstract_inverted_index.from	81, 207, 219
abstract_inverted_index.gene	24
abstract_inverted_index.half	421
abstract_inverted_index.have	17
abstract_inverted_index.more	388, 419
abstract_inverted_index.most	28, 282, 441
abstract_inverted_index.nine	332, 342
abstract_inverted_index.over	44
abstract_inverted_index.skin	392
abstract_inverted_index.sole	360
abstract_inverted_index.than	389, 420
abstract_inverted_index.this	127
abstract_inverted_index.time	125
abstract_inverted_index.were	130, 238, 244, 369, 378
abstract_inverted_index.whom	263, 376
abstract_inverted_index.with	8, 216, 232, 353
abstract_inverted_index.work	427
abstract_inverted_index.(11%)	352
abstract_inverted_index.(15%)	293
abstract_inverted_index.(16%)	196
abstract_inverted_index.(67%)	333
abstract_inverted_index.(BAP1	373
abstract_inverted_index.(five	322
abstract_inverted_index.(last	118
abstract_inverted_index.2022,	31
abstract_inverted_index.2024.	86
abstract_inverted_index.CDK4,	105
abstract_inverted_index.POT1)	302
abstract_inverted_index.Three	349
abstract_inverted_index.alone	435
abstract_inverted_index.aware	450
abstract_inverted_index.being	26
abstract_inverted_index.least	228, 260, 271, 277, 336, 355, 415
abstract_inverted_index.male;	186
abstract_inverted_index.occur	5
abstract_inverted_index.panel	100
abstract_inverted_index.range	191
abstract_inverted_index.remit	73
abstract_inverted_index.seven	131
abstract_inverted_index.study	128
abstract_inverted_index.there	129
abstract_inverted_index.these	16, 254
abstract_inverted_index.those	326, 400
abstract_inverted_index.three	272, 278, 337, 356, 416
abstract_inverted_index.two),	261
abstract_inverted_index.under	71
abstract_inverted_index.which	432
abstract_inverted_index.(R254)	97
abstract_inverted_index.(R422)	161
abstract_inverted_index.(eight	296
abstract_inverted_index.CDKN2A	298
abstract_inverted_index.Health	42
abstract_inverted_index.Nearly	1
abstract_inverted_index.almost	397
abstract_inverted_index.cases,	289
abstract_inverted_index.clinic	64
abstract_inverted_index.common	283
abstract_inverted_index.either	434
abstract_inverted_index.family	10, 214, 230, 345
abstract_inverted_index.genes:	103
abstract_inverted_index.lesion	393
abstract_inverted_index.median	187
abstract_inverted_index.member	231
abstract_inverted_index.moles,	150
abstract_inverted_index.number	137, 200, 212
abstract_inverted_index.panel,	410
abstract_inverted_index.ranged	206, 218
abstract_inverted_index.result	405
abstract_inverted_index.should	448
abstract_inverted_index.subset	14
abstract_inverted_index.tested	294, 401
abstract_inverted_index.tests.	446
abstract_inverted_index.these,	194
abstract_inverted_index.total,	235
abstract_inverted_index.tumour	158
abstract_inverted_index.years,	46, 190
abstract_inverted_index.(CDKN2A	25
abstract_inverted_index.2025)].	122
abstract_inverted_index.CDKN2A,	104
abstract_inverted_index.Fifteen	367
abstract_inverted_index.Further	426
abstract_inverted_index.Genomic	90, 112
abstract_inverted_index.January	82
abstract_inverted_index.Results	243
abstract_inverted_index.Service	43
abstract_inverted_index.cancer.	153
abstract_inverted_index.clinics	462
abstract_inverted_index.family,	144
abstract_inverted_index.female,	184
abstract_inverted_index.genetic	53, 464
abstract_inverted_index.history	346
abstract_inverted_index.include	98
abstract_inverted_index.meeting	327
abstract_inverted_index.members	215
abstract_inverted_index.overall	286
abstract_inverted_index.remains	70
abstract_inverted_index.request	52
abstract_inverted_index.result.	366
abstract_inverted_index.tested.	379
abstract_inverted_index.tested:	250
abstract_inverted_index.testing	69, 132, 155, 182, 454
abstract_inverted_index.through	47
abstract_inverted_index.variant	308
abstract_inverted_index.Abstract	0
abstract_inverted_index.England.	110
abstract_inverted_index.February	121
abstract_inverted_index.National	41, 89, 111
abstract_inverted_index.November	85
abstract_inverted_index.Overall,	170
abstract_inverted_index.Specific	154
abstract_inverted_index.accessed	119
abstract_inverted_index.atypical	149
abstract_inverted_index.clinical	75
abstract_inverted_index.common).	29
abstract_inverted_index.criteria	93, 180, 258, 455
abstract_inverted_index.declined	197
abstract_inverted_index.eligible	239, 370
abstract_inverted_index.familial	95, 408, 452
abstract_inverted_index.genetics	63, 461
abstract_inverted_index.genomics	38
abstract_inverted_index.germline	19, 365
abstract_inverted_index.history,	11
abstract_inverted_index.majority	412
abstract_inverted_index.melanoma	62, 96, 147, 217, 409, 453
abstract_inverted_index.multiple	256, 316, 328, 423
abstract_inverted_index.mutation	20
abstract_inverted_index.outlined	35
abstract_inverted_index.patients	7, 79, 172, 224, 237, 292, 314, 368, 381
abstract_inverted_index.positive	295, 313, 364, 383, 404, 445
abstract_inverted_index.referral	457
abstract_inverted_index.referred	80
abstract_inverted_index.regional	60
abstract_inverted_index.removed.	394
abstract_inverted_index.required	429
abstract_inverted_index.results,	384
abstract_inverted_index.reviewed	78
abstract_inverted_index.strategy	33
abstract_inverted_index.syndrome	160
abstract_inverted_index.testing.	54, 67, 198, 242
abstract_inverted_index.tumours.	169
abstract_inverted_index.valuable	442
abstract_inverted_index.24–89).	192
abstract_inverted_index.Available	115
abstract_inverted_index.Diagnosis	274
abstract_inverted_index.Directory	92
abstract_inverted_index.available	245
abstract_inverted_index.criteria,	133, 318, 433
abstract_inverted_index.criteria.	329, 425
abstract_inverted_index.criterion	284, 361
abstract_inverted_index.dependent	134, 163
abstract_inverted_index.diagnosis	166, 268
abstract_inverted_index.embedding	37
abstract_inverted_index.establish	431
abstract_inverted_index.genetics.	76
abstract_inverted_index.melanoma.	233, 348
abstract_inverted_index.melanomas	4, 139, 202, 279, 357
abstract_inverted_index.referred)	176
abstract_inverted_index.testing),	374
abstract_inverted_index.uncertain	310
abstract_inverted_index.Directory.	114
abstract_inverted_index.Predictive	68
abstract_inverted_index.accounting	319
abstract_inverted_index.diagnosis,	148
abstract_inverted_index.diagnostic	66
abstract_inverted_index.individual	142, 205
abstract_inverted_index.melanomas,	338, 417
abstract_inverted_index.melanomas.	273
abstract_inverted_index.pancreatic	152
abstract_inverted_index.predicting	444
abstract_inverted_index.specialist	459
abstract_inverted_index.upskilling	48
abstract_inverted_index.conclusion,	396
abstract_inverted_index.dermatology	61, 460
abstract_inverted_index.eligibility	179, 257, 317, 424
abstract_inverted_index.specialties	50
abstract_inverted_index.BAP1-related	168
abstract_inverted_index.combination,	438
abstract_inverted_index.counselling.	465
abstract_inverted_index.Consequently,	55
abstract_inverted_index.significance.	311
abstract_inverted_index.Dermatologists	447
abstract_inverted_index.predisposition	159
abstract_inverted_index.BAP1-associated	157
abstract_inverted_index.BAP1-inactivated	391
abstract_inverted_index.melanoma-predisposing	23
abstract_inverted_index.https://www.england.nhs.uk/publication/national-genomic-test-directories	117
cited_by_percentile_year
countries_distinct_count	1
institutions_distinct_count	8
citation_normalized_percentile.value	0.36500169
citation_normalized_percentile.is_in_top_1_percent	False
citation_normalized_percentile.is_in_top_10_percent	False