Research & Literature

Familial atypical multiple mole melanoma syndrome in an adult Indian male-case report and literature review.

Raj RC, Patil R

Indian journal of dermatology 2015; (60(2)):217 doi:10.4103/0019-5154.152585.

Association of Patient Risk Factors and Frequency of Nevus-Associated Cutaneous Melanomas.

Haenssle HA, Mograby N, Ngassa A, et al.

JAMA dermatology 2016; (152(3)):291-8 doi:10.1001/jamadermatol.2015.3775.

Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome.

Soura E, Eliades PJ, Shannon K, et al.

Journal of the American Academy of Dermatology 2016; (74(3)):395-407; quiz 408-10.

Germline CDKN2A Mutation Status and Survival in Familial Melanoma Cases.

Helgadottir H, Höiom V, Tuominen R, et al.

Journal of the National Cancer Institute 2016; (108(11)) doi:10.1093/jnci/djw135.

Routine use of gene panel testing in hereditary breast cancer should be performed with caution.

van Marcke C, De Leener A, Berlière M, et al.

Critical reviews in oncology/hematology 2016; (108()):33-39 doi:10.1016/j.critrevonc.2016.10.008.

Identification, genetic testing, and management of hereditary melanoma.

Leachman SA, Lucero OM, Sampson JE, et al.

Cancer metastasis reviews 2017; (36(1)):77-90 doi:10.1007/s10555-017-9661-5.

Cancer risks and survival in patients with multiple primary melanomas: Association with family history of melanoma and germline CDKN2A mutation status.

Helgadottir H, Tuominen R, Olsson H, et al.

Journal of the American Academy of Dermatology 2017; (77(5)):893-901 doi:10.1016/j.jaad.2017.05.050.

Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3.

Delaunay J, Martin L, Bressac-de Paillerets B, et al.

JAMA dermatology 2017; (153(11)):1122-1129 doi:10.1001/jamadermatol.2017.2926.

The importance of a well-structured pancreatic screening program for familial and hereditary pancreatic cancer.

Vasen HFA

Familial cancer 2018; (17(1)):1-3 doi:10.1007/s10689-017-0066-y.

Overview of BAP1 cancer predisposition syndrome and the relationship to uveal melanoma.

Masoomian B, Shields JA, Shields CL

Journal of current ophthalmology 2018; (30(2)):102-109 doi:10.1016/j.joco.2018.02.005.

GROWTH OF PRESUMED CHOROIDAL NEVUS INTO MELANOMA OVER 4 YEARS IN BAP1 TUMOR PREDISPOSITION SYNDROME.

Masoomian B, Shields CL, Mashayekhi A, et al.

Retinal cases & brief reports 2021; (15(2)):93-96 doi:10.1097/ICB.0000000000000772.

Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations.

Helgadottir H, Ghiorzo P, van Doorn R, et al.

Journal of medical genetics 2020; (57(5)):316-321 doi:10.1136/jmedgenet-2018-105610.

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Potjer TP, Bollen S, Grimbergen AJEM, et al.

International journal of cancer 2019; (144(10)):2453-2464 doi:10.1002/ijc.31984.

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families.

Potrony M, Puig-Butille JA, Ribera-Sola M, et al.

The British journal of dermatology 2019; (181(1)):105-113 doi:10.1111/bjd.17443.

Analysis of the CDKN2A Gene in FAMMM Syndrome Families Reveals Early Age of Onset for Additional Syndromic Cancers.

Middlebrooks CD, Stacey ML, Li Q, et al.

Cancer research 2019; (79(11)):2992-3000 doi:10.1158/0008-5472.CAN-18-1580.

Advances in pathological diagnosis of mesothelioma: what pulmonologists should know.

Louw A, Badiei A, Creaney J, et al.

Current opinion in pulmonary medicine 2019; (25(4)):354-361 doi:10.1097/MCP.0000000000000578.

Well-differentiated Pancreatic Neuroendocrine Tumor in a Patient With Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM).

Noë M, Hackeng WM, de Leng WWJ, et al.

The American journal of surgical pathology 2019; (43(9)):1297-1302 doi:10.1097/PAS.0000000000001314.

Solar Lentigines are Associated with Better Outcome in Cutaneous Melanoma.

Marasigan V, Güvenç C, Oord JJ, et al.

Acta dermato-venereologica 2019; (99(12)):1154-1159 doi:10.2340/00015555-3270.

European consensus-based interdisciplinary guideline for melanoma. Part 2: Treatment - Update 2019.

Garbe C, Amaral T, Peris K, et al.

European journal of cancer (Oxford, England : 1990) 2020; (126()):159-177 doi:10.1016/j.ejca.2019.11.015.

Development of esophageal squamous cell cancer in patients with FAMMM syndrome: Two clinical reports.

van der Wilk BJ, Noordman BJ, Atmodimedjo PN, et al.

European journal of medical genetics 2020; (63(3)):103840 doi:10.1016/j.ejmg.2020.103840.

BAP1 Germline Mutation Associated with Bilateral Primary Uveal Melanoma.

Yu MD, Masoomian B, Shields JA, Shields CL

Ocular oncology and pathology 2020; (6(1)):10-14 doi:10.1159/000499570.

Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients.

Ciccarese G, Dalmasso B, Bruno W, et al.

Journal of translational medicine 2020; (18(1)):78 doi:10.1186/s12967-020-02253-8.

Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.

Pastorino L, Andreotti V, Dalmasso B, et al.

Cancers 2020; (12(4)) doi:10.3390/cancers12041007.

Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.

Overbeek KA, Rodríguez-Girondo MD, Wagner A, et al.

Journal of medical genetics 2021; (58(4)):264-269 doi:10.1136/jmedgenet-2019-106562.

Recurrent melanoma development in a Caucasian female with CDKN2A+ mutation and FAMMM syndrome: A case report.

Gu K, Velde RV, Pitz M, Silver S

SAGE open medical case reports 2020; (8()):2050313X20936034 doi:10.1177/2050313X20936034.

Genetic Alterations in the INK4a/ARF Locus: Effects on Melanoma Development and Progression.

Ming Z, Lim SY, Rizos H

Biomolecules 2020; (10(10)) doi:10.3390/biom10101447.

Outcomes of endoscopic ultrasound as a one-off pancreatic cancer screening tool for 122 high- and moderate-risk patients.

Efthymiou M, Chandran S, Zorron Cheng Tao Pu L, et al.

JGH open : an open access journal of gastroenterology and hepatology 2020; (4(6)):1217-1223 doi:10.1002/jgh3.12432.

A Systematic Review on the Impact of Genetic Testing for Familial Melanoma II: Psychosocial Outcomes and Attitudes.

Primiero CA, Yanes T, Finnane A, et al.

Dermatology (Basel, Switzerland) 2021; (237(5)):816-826 doi:10.1159/000513576.

CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.

Chan SH, Chiang J, Ngeow J

Hereditary cancer in clinical practice 2021; (19(1)):21 doi:10.1186/s13053-021-00178-x.

BAPoma presenting as an incidental scalp papule: case report, literature review, and screening recommendations for BAP1 tumor predisposition syndrome.

Zaayman M, Nguyen P, Silfvast-Kaiser A, et al.

The Journal of dermatological treatment 2022; (33(4)):1855-1860 doi:10.1080/09546634.2021.1939847.

Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Mao R, Krautscheid P, Graham RP, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(10)):1807-1817 doi:10.1038/s41436-021-01207-9.

Molecular landscape of Hereditary Melanoma.

Ribeiro Moura Brasil Arnaut J, Dos Santos Guimarães I, Evangelista Dos Santos AC, et al.

Critical reviews in oncology/hematology 2021; (164()):103425 doi:10.1016/j.critrevonc.2021.103425.

Response to "BAP1 Germline Mutation Associated with Bilateral Primary Uveal Melanoma".

Herwig-Carl MC, Sharma A, Melzer C, et al.

Ocular oncology and pathology 2021; (7(3)):233-234 doi:10.1159/000513554.

The Interplay between Nevi and Melanoma Predisposition Unravels Nevi-Related and Nevi-Resistant Familial Melanoma.

Pellegrini S, Elefanti L, Dall'Olmo L, Menin C

Genes 2021; (12(7)) doi:10.3390/genes12071077.

Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.

Zocchi L, Lontano A, Merli M, et al.

Journal of clinical medicine 2021; (10(16)) doi:10.3390/jcm10163760.

Tumor-Infiltrating Immune-Related Long Non-Coding RNAs Indicate Prognoses and Response to PD-1 Blockade in Head and Neck Squamous Cell Carcinoma.

Ma B, Jiang H, Luo Y, et al.

Frontiers in immunology 2021; (12()):692079 doi:10.3389/fimmu.2021.692079.

Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia.

Gupta S, Erickson LA, Lohse CM, et al.

JAMA network open 2021; (4(11)):e2132615 doi:10.1001/jamanetworkopen.2021.32615.

Hereditary oral squamous cell carcinoma associated with CDKN2A germline mutation: a case report.

Jeong AR, Forbes K, Orosco RK, Cohen EEW

Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale 2022; (51(1)):5 doi:10.1186/s40463-022-00556-y.

Considerations for Germline Testing in Melanoma: Updates in Behavioral Change and Pancreatic Surveillance for Carriers of CDKN2A Pathogenic Variants.

Pauley K, Khan A, Kohlmann W, Jeter J

Frontiers in oncology 2022; (12()):837057 doi:10.3389/fonc.2022.837057.

Surgical Management of Melanoma: Advances and Updates.

Santamaria-Barria JA, Mammen JMV

Current oncology reports 2022; (24(11)):1425-1432 doi:10.1007/s11912-022-01289-x.

Concordance of EUS and MRI/MRCP findings among high-risk individuals undergoing pancreatic cancer screening.

Siegel A, Friedman M, Feldman D, et al.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2022; (22(7)):951-958 doi:10.1016/j.pan.2022.07.015.

Melanoma-specific survival before and after inclusion in a familial melanoma dermatologic surveillance program in CDKN2A mutation carriers and non-carriers.

Pissa M, Lapins J, Sköldmark C, Helgadottir H

Journal of the European Academy of Dermatology and Venereology : JEADV 2023; (37(2)):284-292 doi:10.1111/jdv.18589.

Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma.

Primiero CA, Finnane A, Yanes T, et al.

PloS one 2022; (17(12)):e0275926 doi:10.1371/journal.pone.0275926.

Indications for Digital Monitoring of Patients With Multiple Nevi: Recommendations from the International Dermoscopy Society.

Russo T, Piccolo V, Moscarella E, et al.

Dermatology practical & conceptual 2022; (12(4)):e2022182 doi:10.5826/dpc.1204a182.

Surveillance, CDKN2A and survival of familial melanoma.

van Doorn R

Journal of the European Academy of Dermatology and Venereology : JEADV 2023; (37(2)):218-219 doi:10.1111/jdv.18796.

Imaging for Screening/Surveillance of Pancreatic Cancer: A Glimpse of Hope.

Elbanna KY, Jang HJ, Kim TK

Korean journal of radiology 2023; (24(4)):271-273 doi:10.3348/kjr.2022.1035.

CDKN2A/CDK4 status in Brazilian patients meeting clinical criteria for hereditary melanoma: a cross-sectional descriptive trial.

Arnaut JRMB, Guimarães IDS, Dos Santos ACE, et al.

International journal of dermatology 2023; (62(8)):1060-1066 doi:10.1111/ijd.16742.

Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.

Roccuzzo G, Giordano S, Granato T, et al.

Cancers 2023; (15(15)) doi:10.3390/cancers15153772.

Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.

Soares de Sá BC, Moredo LF, Torrezan GT, et al.

International journal of molecular sciences 2023; (24(21)) doi:10.3390/ijms242115830.

Immunophenotypic p14 and p16 correlations with CDKN2A mutations in primary multiple and familial melanoma: An observational study.

Boşoteanu LA, Gheorghe E, Aşchie M, et al.

Medicine 2023; (102(51)):e36756 doi:10.1097/MD.0000000000036756.

CDKN2A Gene Mutations: Implications for Hereditary Cancer Syndromes.

Danishevich A, Bilyalov A, Nikolaev S, et al.

Biomedicines 2023; (11(12)) doi:10.3390/biomedicines11123343.

Genetic testing for familial melanoma.

Primiero CA, Maas EJ, Wallingford CK, et al.

Italian journal of dermatology and venereology 2024; (159(1)):34-42 doi:10.23736/S2784-8671.23.07761-7.

Familial Melanoma Phenotype With Xeroderma Pigmentosum Group C (XP-C) Genotype - The Putative Role of MC1R Polymorphism as Modifier.

Leidenz FAB, Bittencourt FV, Braga WG, et al.

Dermatology practical & conceptual 2024; (14(1)) doi:10.5826/dpc.1401a50.

Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report.

Kiyozumi Y, Matsubayashi H, Todaka A, et al.

Hereditary cancer in clinical practice 2024; (22(1)):11 doi:10.1186/s13053-024-00283-7.

Unveiling the genetic landscape of hereditary melanoma: From susceptibility to surveillance.

Zheng C, Sarin KY

Cancer treatment and research communications 2024; (40()):100837 doi:10.1016/j.ctarc.2024.100837.

Cell Senescence and the Genetics of Melanoma Development.

Constantinou SM, Bennett DC

Genes, chromosomes & cancer 2024; (63(10)):e23273 doi:10.1002/gcc.23273.

Germline mutations predisposing to melanoma and associated malignancies and syndromes: a narrative review.

López Riquelme I, Martínez García S, Serrano Ordónez A, Martínez Pilar L

International journal of dermatology 2025; (64(6)):1027-1041 doi:10.1111/ijd.17602.

CDKN2A Mutation: A Patient's and Physician's Experience.

Shaked Y, Swearingen A, Liebman TN

Dermatology and therapy 2025; (15(2)):265-268 doi:10.1007/s13555-025-01354-w.

Suboptimal adherence to surveillance in high-risk individuals for pancreatic cancer at a tertiary care academic center: Lessons from real-world surveillance patterns.

Lee AA, Twoy A, Sutton A, et al.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2025; (25(4)):540-543 doi:10.1016/j.pan.2025.05.002.

Updated 2025 French guidelines for renal cell carcinoma.

Bigot P, Khene ZE, Boissier R, et al.

The French journal of urology 2025; (35(12)):103007 doi:10.1016/j.fjurol.2025.103007.

Diagnosis and treatment strategies for hereditary pancreatic cancer syndrome.

Matsubayashi H, Morizane C, Kanai M, et al.

International journal of clinical oncology 2025; doi:10.1007/s10147-025-02905-z.

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics.

Sauer M, Lucas MC, Prokosch V, et al.

International journal of cancer 2025; doi:10.1002/ijc.70274.

High Frequency and Unique Subtypes of Meningioma in Patients with BAP1 Tumor Predisposition Syndrome.

Ramsey KA, Byrne L, Taylor OB, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.64898/2025.12.04.25341363.

Patient experience with endoscopic ultrasound and magnetic resonance cholangiopancreatography for pancreatic cancer screening (The PATRIOT study).

Silva-Santisteban Merino A, Ariza Manzano KE, Ballou S, et al.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2026; (26(2)):259-264 doi:10.1016/j.pan.2025.12.024.

High frequency and unique subtypes of meningioma in patients with BAP1 tumor predisposition syndrome.

Ramsey KA, Byrne L, Taylor OB, et al.

Journal of neuro-oncology 2026; (176(3)):207.