Chromosomal 1p32 abnormality: emerge insight in multiple myeloma and research progress in cross-disease expansion_West China Medical Journal

Authors：

YUAN Ke ^1,2 , ZOU Xingli ³ ,  ZHANG Li ^1,2

1. Department of Hematology / Institute of Hematology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;
2. West China School of Medicine, Sichuan University, Chengdu, Sichuan 610041, P. R. China;
3. Department of Hematology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, P. R. China;

Corresponding?author：

ZHANG Li, Email: drzhangli2014@sina.com

Keywords：

1p32; myeloma; fluorescence in situ hybridization; tumor; disease

DOI：

10.7507/1002-0179.202503061

Video：

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In recent years, the impact of chromosomal 1p32 abnormalities on diseases such as multiple myeloma (MM) has received increasing attention. Deletion of 1p32 is a key adverse prognostic factor for overall survival and progression-free survival in MM patients and also influences pre-MM states and primary plasma cell leukemia. Fluorescence in situ hybridization is currently the primary method for detecting chromosomal 1p32 abnormalities, yet it has limitations; emerging genetic testing technologies offer improved detection sensitivity. Furthermore, chromosomal 1p32 abnormalities are associated with other hematologic malignancies, solid tumors, and various non-neoplastic diseases. In summary, the chromosomal 1p32 region holds significant promise for clinical translation in disease diagnosis, prognostic assessment, and personalized therapy. This review reviews the detection techniques for chromosomal 1p32 abnormalities and the cross-disease research progress, in order to explore their clinical translation prospects.

Citation： YUAN Ke, ZOU Xingli, ZHANG Li. Chromosomal 1p32 abnormality: emerge insight in multiple myeloma and research progress in cross-disease expansion. West China Medical Journal, 2026, 41(4): 680-686. doi: 10.7507/1002-0179.202503061 Copy

1.	Qiu S, Zhang J, Wang Z, et al. Targeting trop-2 in cancer: recent research progress and clinical application. Biochim Biophys Acta Rev Cancer, 2023, 1878(4): 188902.
2.	Lombardi P, Filetti M, Falcone R, et al. Overview of trop-2 in cancer: from pre-clinical studies to future directions in clinical settings. Cancers (Basel), 2023, 15(6): 1744.
3.	Vranic S, Gatalica Z. Trop-2 protein as a therapeutic target: a focused review on Trop-2-based antibody-drug conjugates and their predictive biomarkers. Bosn J Basic Med Sci, 2022, 22(1): 14-21.
4.	Koltai T, Fliegel L. The relationship between trop-2, chemotherapeutic drugs, and chemoresistance. Int J Mol Sci, 2023, 25(1): 87.
5.	Trerotola M, Guerra E, Ali Z, et al. Trop-2 cleavage by ADAM10 is an activator switch for cancer growth and metastasis. Neoplasia, 2021, 23(4): 415-428.
6.	Guglielmelli P, Calabresi L. The MPL mutation. Int Rev Cell Mol Biol, 2021, 365: 163-178.
7.	Williams N, Lee J, Mitchell E, et al. Life histories of myeloproliferative neoplasms inferred from phylogenies. Nature, 2022, 602(7895): 162-168.
8.	Platteborze PL, Hobart MJ, Sodetz JM. Physical linkage and orientation of the human complement C8 alpha and C8 beta genes on chromosome 1p32. Hum Genet, 1996, 98(4): 443-446.
9.	Boyd KD, Ross FM, Walker BA, et al. Mapping of chromosome 1p deletions in myeloma identifies FAM46C at 1p12 and CDKN2C at 1p32. 3 as being genes in regions associated with adverse survival. Clin Cancer Res, 2011, 17(24): 7776-7784.
10.	Menges CW, Altomare DA, Testa JR. FAS-associated factor 1 (FAF1): diverse functions and implications for oncogenesis. Cell Cycle, 2009, 8(16): 2528-2534.
11.	Ryu SW, Kim HS, Yoon SK, et al. Human fas associated factor 1, hFAF1, gene maps to chromosome band 1p32. Mol Cells, 2000, 10(5): 598-600.
12.	Cowan AJ, Green DJ, Kwok M, et al. Diagnosis and management of multiple myeloma: a review. JAMA, 2022, 327(5): 464-477.
13.	時雨, 楊慧, 郭睿, 等. 骨髓涂片胞質輕鏈免疫熒光結合 FISH 檢測多發性骨髓瘤細胞遺傳學異常. 中華血液學雜志, 2024, 45(6): 566-570.
14.	李清照, 譚奎, 劉玉霞, 等. CD138 免疫磁珠分選結合熒光原位雜交技術在多發性骨髓瘤中的應用. 中國實驗血液學雜志, 2022, 30(5): 1496-1500.
15.	Gagnon MF, Midthun SM, Fangel JA, et al. Superior detection rate of plasma cell FISH using FACS-FISH. Am J Clin Pathol, 2024, 161(1): 60-70.
16.	Tsukamoto T. New concepts in multiple myeloma by returning to cytogenetics. Rinsho Ketsueki, 2023, 64(5): 411-417.
17.	Bolli N, Genuardi E, Ziccheddu B, et al. Next-generation sequencing for clinical management of multiple myeloma: ready for prime time?. Front Oncol, 2020, 10: 189.
18.	Paiva B, San-Miguel J, Avet-Loiseau H. MRD in multiple myeloma: does CR really matter? Blood, 2022, 140(23): 2423-2428.
19.	Diamond BT, Rustad E, Maclachlan K, et al. Defining the undetectable: the current landscape of minimal residual disease assessment in multiple myeloma and goals for future clarity. Blood Rev, 2021, 46: 100732.
20.	Costa LJ, Derman BA, Bal S, et al. International harmonization in performing and reporting minimal residual disease assessment in multiple myeloma trials. Leukemia, 2021, 35(1): 18-30.
21.	Merleev A, Ji-Xu A, Toussi A, et al. Proprotein convertase subtilisin/kexin type 9 is a psoriasis-susceptibility locus that is negatively related to IL36G. JCI Insight, 2022, 7(16): e141193.
22.	Dong M, Shan B, Han X, et al. Baseline mutations and up-regulation of PI3K-AKT pathway serve as potential indicators of lack of response to neoadjuvant chemotherapy in stage II/III breast cancer. Front Oncol, 2022, 11: 784985.
23.	Porokhovnik LN, Veiko NN, Ershova ES, et al. The role of human satellite III (1q12) copy number variation in the adaptive response during aging, stress, and pathology: a pendulum model. Genes (Basel), 2021, 12(10): 1524.
24.	Wang H, Meng H, Wang J, et al. Clinical characteristics and prognostic values of 1p32. 3 deletion detected through fluorescence in situ hybridization in patients with newly diagnosed multiple myeloma: a single-center study in China. Front Med, 2020, 14(3): 327-334.
25.	Schavgoulidze A, Talbot A, Perrot A, et al. Biallelic deletion of 1p32 defines ultra-high-risk myeloma, but monoallelic del(1p32) remains a strong prognostic factor. Blood, 2023, 141(11): 1308-1315.
26.	Hassan H, Szalat R. Genetic predictors of mortality in patients with multiple myeloma. Appl Clin Genet, 2021, 14: 241-254.
27.	Kumar SK, Callander NS, Adekola K, et al. Multiple myeloma, version 2. 2024, NCCN clinical practice guidelines in oncology. J Natl Compr Canc Netw, 2023, 21(12): 1281-1301.
28.	中國抗癌協會血液腫瘤專業委員會骨髓瘤與漿細胞疾病學組, 中國臨床腫瘤學會多發性骨髓瘤專家委員會. 高危多發性骨髓瘤診斷與治療中國專家共識(2024 年版). 中華血液學雜志, 2024, 45(5): 430-435.
29.	郭睿, 沈旭星, 夏園, 等. 1p32 缺失在初診多發性骨髓瘤患者中的預后意義. 中國實驗血液學雜志, 2024, 32(3): 768-773.
30.	Jiménez-Segura R, Rosi?ol L, Cibeira MT, et al. Paraskeletal and extramedullary plasmacytomas in multiple myeloma at diagnosis and at first relapse: 50-years of experience from an academic institution. Blood Cancer J, 2022, 12(9): 135.
31.	Varma A, Sui D, Milton DR, et al. Outcome of multiple myeloma with chromosome 1q gain and 1p deletion after autologous hematopoietic stem cell transplantation: propensity score matched analysis. Biol Blood Marrow Transplant, 2020, 26(4): 665-671.
32.	Khot A. Del(1p32): prime time in (ultra) high-risk myeloma. Blood, 2023, 141(11): 1241-1243.
33.	Davies FE, Pawlyn C, Usmani SZ, et al. Perspectives on the risk-stratified treatment of multiple myeloma. Blood Cancer Discov, 2022, 3(4): 273-284.
34.	Stork M, Ondrouskova E, Bohunova M, et al. Del(1p32) is an early and high-risk event in multiple myeloma patients with extraosseous disease. Blood Cancer J, 2024, 14(1): 146.
35.	Moscvin M, Evans B, Bianchi G. Dissecting molecular mechanisms of immune microenvironment dysfunction in multiple myeloma and precursor conditions. J Cancer Metastasis Treat, 2023, 9: 17.
36.	汪平, 王學東, 劉露, 等. 多發性骨髓瘤漿細胞 CD117/CD200 表達模式與分子遺傳學預后參數的相關性研究. 中國實驗血液學雜志, 2023, 31(5): 1415-1420.
37.	竇雪琳, 劉瑞霞, 劉揚, 等. 一線含 CD38 單抗方案治療原發漿細胞白血病的有效性和安全性分析. 中華醫學雜志, 2024, 104(7): 499-506.
38.	Cazaubiel T, Leleu X, Perrot A, et al. Primary plasma cell leukemias displaying t(11;14) have specific genomic, transcriptional, and clinical features. Blood, 2022, 139(17): 2666-2672.
39.	van Weelderen RE, Harrison CJ, Klein K, et al. Optimized cytogenetic risk-group stratification of KMT2A-rearranged pediatric acute myeloid leukemia. Blood Adv, 2024, 8(12): 3200-3213.
40.	Panagopoulos I, Andersen K, Johannsdottir IMR, et al. Genetic characterization of pediatric mixed phenotype acute leukemia (MPAL). Cancer Genomics Proteomics, 2024, 21(1): 1-11.
41.	Yamamoto K, Yakushijin K, Mizutani Y, et al. Expression of a novel type of KMT2A/EPS15 fusion transcript in FLT3 mutation-positive B-lymphoblastic leukemia with t(1;11)(p32;q23). Cancer Genet, 2021(254/255): 92-97.
42.	Wang Q, Wu LL, Dai HP, et al. Correlation between expression of SIL-TAL1 fusion gene and deletion of 6q in T-cell acute lymphoblastic leukemia. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2014, 22(6): 1508-1513.
43.	Sabir N, Iqbal Z, Aleem A, et al. Prognostically significant fusion oncogenes in Pakistani patients with adult acute lymphoblastic leukemia and their association with disease biology and outcome. Asian Pac J Cancer Prev, 2012, 13(7): 3349-3355.
44.	Dierlamm J, Stefanova M, Wlodarska I, et al. Chromosomal gains and losses are uncommon in hairy cell leukemia: a study based on comparative genomic hybridization and interphase fluorescence in situ hybridization. Cancer Genet Cytogenet, 2001, 128(2):164-167.
45.	Iolascon A, Faienza MF, Coppola B, et al. Frequent clonal loss of heterozygosity (LOH) in the chromosomal region 1p32 occurs in childhood T cell acute lymphoblastic leukemia (T-ALL) carrying rearrangements of the TAL1 gene. Leukemia, 1997, 11(3): 359-363.
46.	Bernard O, Guglielmi P, Jonveaux P, et al. Two distinct mechanisms for the SCL gene activation in the t(1;14) translocation of T-cell leukemias. Genes Chromosomes Cancer, 1990, 1(3): 194-208.
47.	Finger LR, Kagan J, Christopher G, et al. Involvement of the TCL5 gene on human chromosome 1 in T-cell leukemia and melanoma. Proc Natl Acad Sci U S A, 1989, 86(13): 5039-5043.
48.	Cheung KJ, Delaney A, Ben-Neriah S, et al. High resolution analysis of follicular lymphoma genomes reveals somatic recurrent sites of copy-neutral loss of heterozygosity and copy number alterations that target single genes. Genes Chromosomes Cancer, 2010, 49(8): 669-681.
49.	Zhang M, Swanson PC. V(D)J recombinase binding and cleavage of cryptic recombination signal sequences identified from lymphoid malignancies. J Biol Chem, 2008, 283(11): 6717-6727.
50.	Flordal Thelander E, Ichimura K, Collins VP, et al. Detailed assessment of copy number alterations revealing homozygous deletions in 1p and 13q in mantle cell lymphoma. Leuk Res, 2007, 31(9): 1219-1230.
51.	Zhou Y, Ye H, Martin-Subero JI, et al. The pattern of genomic gains in salivary gland MALT lymphomas. Haematologica, 2007, 92(7): 921-927.
52.	Batista DA, Vonderheid EC, Hawkins A, et al. Multicolor fluorescence in situ hybridization (SKY) in mycosis fungoides and Sézary syndrome: search for recurrent chromosome abnormalities. Genes Chromosomes Cancer, 2006, 45(4): 383-391.
53.	Perotti D, Pettenella F, Luksch R, et al. Molecular analysis of 1p32 genetic involvement in pediatric T-cell non-Hodgkin’s lymphoma. Haematologica, 1999, 84(2): 110-113.
54.	Siu LL, Wong KF, Chan JK, et al. Comparative genomic hybridization analysis of natural killer cell lymphoma/leukemia. Recognition of consistent patterns of genetic alterations. Am J Pathol, 1999, 155(5): 1419-1425.
55.	Offit K, Jhanwar SC, Ladanyi M, et al. Cytogenetic analysis of 434 consecutively ascertained specimens of non-Hodgkin’s lymphoma: correlations between recurrent aberrations, histology, and exposure to cytotoxic treatment. Genes Chromosomes Cancer, 1991, 3(3): 189-201.
56.	Offit K, Wong G, Filippa DA, et al. Cytogenetic analysis of 434 consecutively ascertained specimens of non-Hodgkin’s lymphoma: clinical correlations. Blood, 1991, 77(7): 1508-1515.
57.	Marth JD, Disteche C, Pravtcheva D, et al. Localization of a lymphocyte-specific protein tyrosine kinase gene (lck) at a site of frequent chromosomal abnormalities in human lymphomas. Proc Natl Acad Sci U S A, 1986, 83(19): 7400-7404.
58.	Cui J, Li X, Deng S, et al. Identification of therapy-induced clonal evolution and resistance pathways in minimal residual clones in multiple myeloma through single-cell sequencing. Clin Cancer Res, 2024, 30(17): 3919-3936.
59.	Manios K, Chrysovergis A, Papanikolaou V, et al. Impact of C-FOS/C-JUN transcriptional factors co-expression in non-small cell lung carcinoma. Cancer Diagn Progn, 2025, 5(1): 15-20.
60.	Chizhikov V, Zborovskaya I, Laktionov K, et al. Two consistently deleted regions within chromosome 1p32-pter in human non-small cell lung cancer. Mol Carcinog, 2001, 30(3): 151-158.
61.	Gasparian AV, Laktionov KK, Belialova MS, et al. Allelic imbalance and instability of microsatellite loci on chromosome 1p in human non-small-cell lung cancer. Br J Cancer, 1998, 77(10): 1604-1611.
62.	Fong KM, Kida Y, Zimmerman PV, et al. MYCL genotypes and loss of heterozygosity in non-small-cell lung cancer. Br J Cancer, 1996, 74(12): 1975-1978.
63.	Harder KW, Saw J, Miki N, et al. Coexisting amplifications of the chromosome 1p32 genes (PTPRF and MYCL1) encoding protein tyrosine phosphatase LAR and L-myc in a small cell lung cancer line. Genomics, 1995, 27(3): 552-553.
64.	Sugur H, Shastry AH, Sadashiva N, et al. Chromosomal aberrations in chordoid meningioma - an analysis. Neurol India, 2018, 66(1): 156-160.
65.	Sadashiva N, Sugur H, Srinivas D, et al. Chromosomal aberrations in atypical and anaplastic meningiomas: a fluorescence in situ hybridization study. Neurol India, 2015, 63(4): 517-523.
66.	Leuraud P, Marie Y, Robin E, et al. Frequent loss of 1p32 region but no mutation of the p18 tumor suppressor gene in meningiomas. J Neurooncol, 2000, 50(3): 207-213.
67.	Thway K. Well-differentiated liposarcoma and dedifferentiated liposarcoma: an updated review. Semin Diagn Pathol, 2019, 36(2): 112-121.
68.	Thway K, Jones RL, Noujaim J, et al. Dedifferentiated liposarcoma: updates on morphology, genetics, and therapeutic strategies. Adv Anat Pathol, 2016, 23(1): 30-40.
69.	Hiyama E, Hiyama K, Ohtsu K, et al. Biological characteristics of neuroblastoma with partial deletion in the short arm of chromosome 1. Med Pediatr Oncol, 2001, 36(1): 67-74.
70.	Ohtsu K, Hiyama E, Ichikawa T, et al. Clinical investigation of neuroblastoma with partial deletion in the short arm of chromosome 1. Clin Cancer Res, 1997, 3(7): 1221-1228.
71.	Christiansen H, Lampert F. Tumour karyotype discriminates between good and bad prognostic outcome in neuroblastoma. Br J Cancer, 1988, 57(1): 121-126.
72.	Rao PH, Roberts D, Zhao YJ, et al. Deletion of 1p32-p36 is the most frequent genetic change and poor prognostic marker in adenoid cystic carcinoma of the salivary glands. Clin Cancer Res, 2008, 14(16): 5181-5187.
73.	Corral-Juan M, Serrano-Munuera C, Rábano A, et al. Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37. Brain, 2018, 141(7): 1981-1997.
74.	Seixas AI, Loureiro JR, Costa C, et al. A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapping to SCA37, causes spinocerebellar ataxia. Am J Hum Genet, 2017, 101(1): 87-103.
75.	Jiang M, Wang S, Li F, et al. A novel 1p33p32. 2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: a case report. Medicine (Baltimore), 2020, 99(45): e23033.
76.	Schirwani S, Smith K, Balasubramanian M. Clinical and molecular characterization of the first familial report of 1p32 microdeletion. Clin Dysmorphol, 2018, 27(2): 36-41.
77.	Revah-Politi A, Ganapathi M, Bier L, et al. Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: a four patient series. Am J Med Genet A, 2017, 173(12): 3158-3164.
78.	Labonne JD, Shen Y, Kong IK, et al. Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability. Mol Cytogenet, 2016, 9: 24.
79.	Kehrer M, Sch?ferhoff K, Bonin M, et al. Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies. Am J Med Genet A, 2015, 167A (10): 2406-2410.
80.	Seidah NG. The PCSK9 discovery, an inactive protease with varied functions in hypercholesterolemia, viral infections, and cancer. J Lipid Res, 2021, 62: 100130.
81.	Tsai CW, North KE, Tin A, et al. Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians. J Clin Endocrinol Metab, 2015, 100(2): E345-E349.
82.	Li C, He J, Chen J, et al. Genome-wide gene-potassium interaction analyses on blood pressure: the GenSalt study (genetic epidemiology network of salt sensitivity). Circ Cardiovasc Genet, 2017, 10(6): e001811.
83.	Ghazali N, Rahman NA, Kannan TP, et al. Identification of copy neutral loss of heterozygosity on chromosomes 1p, 1q, and 6p among nonsyndromic cleft lip and/or without cleft palate with hypodontia. BMC Oral Health, 2023, 23(1): 945.
84.	Yu Y, Zhen Q, Chen W, et al. Genome-wide meta-analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population. Mol Genet Genomic Med, 2023, 11(10): e2226.
85.	Peng Q, Ehlers CL. Long tracks of homozygosity predict the severity of alcohol use disorders in an American Indian population. Mol Psychiatry, 2021, 26(6): 2200-2211.
86.	Wang KS, Liu X, Zhang Q, et al. A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence. J Psychiatr Res, 2011, 45(11): 1419-1425.
87.	Yu MC, Lee CW, Lee YS, et al. Prediction of early-stage hepatocellular carcinoma using OncoScan chromosomal copy number aberration data. World J Gastroenterol, 2017, 23(44): 7818-7829.
88.	Matsuzaki M, Nagase S, Abe T, et al. Detailed deletion mapping on chromosome 1p32-p36 in human colorectal cancer: identification of three distinct regions of common allelic loss. Int J Oncol, 1998, 13(6): 1229-1233.
89.	Ogunbiyi OA, Goodfellow PJ, Gagliardi G, et al. Prognostic value of chromosome 1p allelic loss in colon cancer. Gastroenterology, 1997, 113(3): 761-766.
90.	El Naofal M, Kim A, Yon HY, et al. Role of CDKN2C fluorescence in situ hybridization in the management of medullary thyroid carcinoma. Ann Clin Lab Sci, 2017, 47(5): 523-528.
91.	Samaan NA, Yang KP, Schultz P, et al. Diagnosis, management, and pathogenetic studies in medullary thyroid carcinoma syndrome. Henry Ford Hosp Med J, 1989, 37(3/4): 132-137.
92.	Tong Y, Merino D, Nimmervoll B, et al. Cross-species genomics identifies TAF12, NFYC, and RAD54L as choroid plexus carcinoma oncogenes. Cancer Cell, 2015, 27(5): 712-727.
93.	Mastronikolis N, Chrysovergis A, Papanikolaou V, et al. C-jun transcription factor oncogenic activation in oral carcinoma. Maedica (Bucur), 2024, 19(2): 350-354.
94.	Williams EA, Sharaf R, Decker B, et al. CDKN2C-null leiomyosarcoma: a novel, genomically distinct class of TP53/RB1-wild-type tumor with frequent cic genomic alterations and 1p/19q-codeletion. JCO Precis Oncol, 2020, 4: PO. 20.00040.
95.	Bièche I, Khodja A, Lidereau R. Deletion mapping of chromosomal region 1p32-pter in primary breast cancer. Genes Chromosomes Cancer, 1999, 24(3): 255-263.
96.	el-Rifai W, Tarmo L, Hemmer S, et al. DNA copy number losses at 1p32-pter in monozygotic twins concordant for breast cancer. Cancer Genet Cytogenet, 1999, 112(2): 169-172.
97.	Bieche I, Khodja A, Lidereau R. Deletion mapping in breast tumor cell lines points to two distinct tumor-suppressor genes in the 1p32-pter region, one of deleted regions (1p36. 2) being located within the consensus region of LOH in neuroblastoma. Oncol Rep, 1998, 5(1): 267-272.
98.	Bièche I, Champème MH, Lidereau R. A tumor suppressor gene on chromosome 1p32-pter controls the amplification of MYC family genes in breast cancer. Cancer Res, 1994, 54(16): 4274-4276.
99.	Chamberlain MC, Born D. Prognostic significance of relative 1p/19q codeletion in oligodendroglial tumors. J Neurooncol, 2015, 125(2): 249-251.
100.	Scelo G, Purdue MP, Brown KM, et al. Genome-wide association study identifies multiple risk loci for renal cell carcinoma. Nat Commun, 2017, 8: 15724.
101.	Bibi F, Ali I, Naseer MI, et al. Detection of genetic alterations in gastric cancer patients from Saudi Arabia using comparative genomic hybridization (CGH). PLoS One, 2018, 13(9): e0202576.
102.	Liu Y, Gao X, Cao L, et al. Exploration of the causative gene in a case of multiple nevoid basal cell carcinoma: a case report. Rare Tumors, 2024, 16: 20363613241290394.
103.	Arlt MF, Li M, Herzog TJ, et al. A 1-Mb bacterial clone contig spanning the endometrial cancer deletion region at 1p32-p33. Genomics, 1999, 57(1): 62-69.
104.	Deming Y, Li Z, Kapoor M, et al. Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers. Acta Neuropathol, 2017, 133(5): 839-856.
105.	Dellepiane RM, Dell’Era L, Pavesi P, et al. Invasive meningococcal disease in three siblings with hereditary deficiency of the 8(th) component of complement: evidence for the importance of an early diagnosis. Orphanet J Rare Dis, 2016, 11(1): 64.
106.	Shen JZ, Ge WH, Fang Y, et al. A novel polymorphism in protein kinase AMP-activated catalytic subunit alpha 2 (PRKAA2) is associated with type 2 diabetes in the Han Chinese population. J Diabetes, 2017, 9(6): 606-612.
107.	Luo Y, Lu H, Zhang Y, et al. A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes. Mol Cytogenet, 2022, 15(1): 37.
108.	Krause MD, Huang RT, Wu D, et al. Genetic variant at coronary artery disease and ischemic stroke locus 1p32. 2 regulates endothelial responses to hemodynamics. Proc Natl Acad Sci U S A, 2018, 115(48): E11349-E11358.
109.	Zhou J, Zhu L. Shared genetic links between hypothyroidism and psychiatric disorders: evidence from a comprehensive genetic analysis. Front Endocrinol (Lausanne), 2024, 15: 1370019.
110.	Yoon JG, Hahn HM, Choi S, et al. Molecular diagnosis of craniosynostosis using targeted next-generation sequencing. Neurosurgery, 2020, 87(2): 294-302.
111.	Prontera P, Rogaia D, Mencarelli A, et al. Juvenile moyamoya and craniosynostosis in a child with deletion 1p32p31: expanding the clinical spectrum of 1p32p31 deletion syndrome and a review of the literature. Int J Mol Sci, 2017, 18(9): 1998.
112.	Smedley D, Hamoudi R, Lu YJ, et al. Cloning and mapping of members of the MYM family. Genomics, 1999, 60(2): 244-247.
113.	Penney KL, Townsend MK, Turman C, et al. Genome-wide association study for urinary and fecal incontinence in women. J Urol, 2020, 203(5): 978-983.
114.	Wang RX, Zhang HG, Pan Y, et al. Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling. Genet Mol Res, 2016, 15(4): 1-7.
115.	Negishi Y, Miya F, Hattori A, et al. Truncating mutation in NFIA causes brain malformation and urinary tract defects. Hum Genome Var, 2015, 2: 15007.
116.	Ahmad S, Imtiaz MA, Mishra A, et al. Genome-wide association study meta-analysis of neurofilament light (NfL) levels in blood reveals novel loci related to neurodegeneration. Commun Biol, 2024, 7(1): 1103.
117.	Zhang JS, Longo FM. LAR tyrosine phosphatase receptor: alternative splicing is preferential to the nervous system, coordinated with cell growth and generates novel isoforms containing extensive CAG repeats. J Cell Biol, 1995, 128(3): 415-431.
118.	Gong W, Guo P, Li Y, et al. Role of the gut-brain axis in the shared genetic etiology between gastrointestinal tract diseases and psychiatric disorders: a genome-wide pleiotropic analysis. JAMA Psychiatry, 2023, 80(4): 360-370.
119.	Doraczynska-Kowalik A, Nelke KH, Pawlak W, et al. Genetic factors involved in mandibular prognathism. J Craniofac Surg, 2017, 28(5): e422-e431.

1. Qiu S, Zhang J, Wang Z, et al. Targeting trop-2 in cancer: recent research progress and clinical application. Biochim Biophys Acta Rev Cancer, 2023, 1878(4): 188902.
2. Lombardi P, Filetti M, Falcone R, et al. Overview of trop-2 in cancer: from pre-clinical studies to future directions in clinical settings. Cancers (Basel), 2023, 15(6): 1744.
3. Vranic S, Gatalica Z. Trop-2 protein as a therapeutic target: a focused review on Trop-2-based antibody-drug conjugates and their predictive biomarkers. Bosn J Basic Med Sci, 2022, 22(1): 14-21.
4. Koltai T, Fliegel L. The relationship between trop-2, chemotherapeutic drugs, and chemoresistance. Int J Mol Sci, 2023, 25(1): 87.
5. Trerotola M, Guerra E, Ali Z, et al. Trop-2 cleavage by ADAM10 is an activator switch for cancer growth and metastasis. Neoplasia, 2021, 23(4): 415-428.
6. Guglielmelli P, Calabresi L. The MPL mutation. Int Rev Cell Mol Biol, 2021, 365: 163-178.
7. Williams N, Lee J, Mitchell E, et al. Life histories of myeloproliferative neoplasms inferred from phylogenies. Nature, 2022, 602(7895): 162-168.
8. Platteborze PL, Hobart MJ, Sodetz JM. Physical linkage and orientation of the human complement C8 alpha and C8 beta genes on chromosome 1p32. Hum Genet, 1996, 98(4): 443-446.
9. Boyd KD, Ross FM, Walker BA, et al. Mapping of chromosome 1p deletions in myeloma identifies FAM46C at 1p12 and CDKN2C at 1p32. 3 as being genes in regions associated with adverse survival. Clin Cancer Res, 2011, 17(24): 7776-7784.
10. Menges CW, Altomare DA, Testa JR. FAS-associated factor 1 (FAF1): diverse functions and implications for oncogenesis. Cell Cycle, 2009, 8(16): 2528-2534.
11. Ryu SW, Kim HS, Yoon SK, et al. Human fas associated factor 1, hFAF1, gene maps to chromosome band 1p32. Mol Cells, 2000, 10(5): 598-600.
12. Cowan AJ, Green DJ, Kwok M, et al. Diagnosis and management of multiple myeloma: a review. JAMA, 2022, 327(5): 464-477.
13. 時雨, 楊慧, 郭睿, 等. 骨髓涂片胞質輕鏈免疫熒光結合 FISH 檢測多發性骨髓瘤細胞遺傳學異常. 中華血液學雜志, 2024, 45(6): 566-570.
14. 李清照, 譚奎, 劉玉霞, 等. CD138 免疫磁珠分選結合熒光原位雜交技術在多發性骨髓瘤中的應用. 中國實驗血液學雜志, 2022, 30(5): 1496-1500.
15. Gagnon MF, Midthun SM, Fangel JA, et al. Superior detection rate of plasma cell FISH using FACS-FISH. Am J Clin Pathol, 2024, 161(1): 60-70.
16. Tsukamoto T. New concepts in multiple myeloma by returning to cytogenetics. Rinsho Ketsueki, 2023, 64(5): 411-417.
17. Bolli N, Genuardi E, Ziccheddu B, et al. Next-generation sequencing for clinical management of multiple myeloma: ready for prime time?. Front Oncol, 2020, 10: 189.
18. Paiva B, San-Miguel J, Avet-Loiseau H. MRD in multiple myeloma: does CR really matter? Blood, 2022, 140(23): 2423-2428.
19. Diamond BT, Rustad E, Maclachlan K, et al. Defining the undetectable: the current landscape of minimal residual disease assessment in multiple myeloma and goals for future clarity. Blood Rev, 2021, 46: 100732.
20. Costa LJ, Derman BA, Bal S, et al. International harmonization in performing and reporting minimal residual disease assessment in multiple myeloma trials. Leukemia, 2021, 35(1): 18-30.
21. Merleev A, Ji-Xu A, Toussi A, et al. Proprotein convertase subtilisin/kexin type 9 is a psoriasis-susceptibility locus that is negatively related to IL36G. JCI Insight, 2022, 7(16): e141193.
22. Dong M, Shan B, Han X, et al. Baseline mutations and up-regulation of PI3K-AKT pathway serve as potential indicators of lack of response to neoadjuvant chemotherapy in stage II/III breast cancer. Front Oncol, 2022, 11: 784985.
23. Porokhovnik LN, Veiko NN, Ershova ES, et al. The role of human satellite III (1q12) copy number variation in the adaptive response during aging, stress, and pathology: a pendulum model. Genes (Basel), 2021, 12(10): 1524.
24. Wang H, Meng H, Wang J, et al. Clinical characteristics and prognostic values of 1p32. 3 deletion detected through fluorescence in situ hybridization in patients with newly diagnosed multiple myeloma: a single-center study in China. Front Med, 2020, 14(3): 327-334.
25. Schavgoulidze A, Talbot A, Perrot A, et al. Biallelic deletion of 1p32 defines ultra-high-risk myeloma, but monoallelic del(1p32) remains a strong prognostic factor. Blood, 2023, 141(11): 1308-1315.
26. Hassan H, Szalat R. Genetic predictors of mortality in patients with multiple myeloma. Appl Clin Genet, 2021, 14: 241-254.
27. Kumar SK, Callander NS, Adekola K, et al. Multiple myeloma, version 2. 2024, NCCN clinical practice guidelines in oncology. J Natl Compr Canc Netw, 2023, 21(12): 1281-1301.
28. 中國抗癌協會血液腫瘤專業委員會骨髓瘤與漿細胞疾病學組, 中國臨床腫瘤學會多發性骨髓瘤專家委員會. 高危多發性骨髓瘤診斷與治療中國專家共識(2024 年版). 中華血液學雜志, 2024, 45(5): 430-435.
29. 郭睿, 沈旭星, 夏園, 等. 1p32 缺失在初診多發性骨髓瘤患者中的預后意義. 中國實驗血液學雜志, 2024, 32(3): 768-773.
30. Jiménez-Segura R, Rosi?ol L, Cibeira MT, et al. Paraskeletal and extramedullary plasmacytomas in multiple myeloma at diagnosis and at first relapse: 50-years of experience from an academic institution. Blood Cancer J, 2022, 12(9): 135.
31. Varma A, Sui D, Milton DR, et al. Outcome of multiple myeloma with chromosome 1q gain and 1p deletion after autologous hematopoietic stem cell transplantation: propensity score matched analysis. Biol Blood Marrow Transplant, 2020, 26(4): 665-671.
32. Khot A. Del(1p32): prime time in (ultra) high-risk myeloma. Blood, 2023, 141(11): 1241-1243.
33. Davies FE, Pawlyn C, Usmani SZ, et al. Perspectives on the risk-stratified treatment of multiple myeloma. Blood Cancer Discov, 2022, 3(4): 273-284.
34. Stork M, Ondrouskova E, Bohunova M, et al. Del(1p32) is an early and high-risk event in multiple myeloma patients with extraosseous disease. Blood Cancer J, 2024, 14(1): 146.
35. Moscvin M, Evans B, Bianchi G. Dissecting molecular mechanisms of immune microenvironment dysfunction in multiple myeloma and precursor conditions. J Cancer Metastasis Treat, 2023, 9: 17.
36. 汪平, 王學東, 劉露, 等. 多發性骨髓瘤漿細胞 CD117/CD200 表達模式與分子遺傳學預后參數的相關性研究. 中國實驗血液學雜志, 2023, 31(5): 1415-1420.
37. 竇雪琳, 劉瑞霞, 劉揚, 等. 一線含 CD38 單抗方案治療原發漿細胞白血病的有效性和安全性分析. 中華醫學雜志, 2024, 104(7): 499-506.
38. Cazaubiel T, Leleu X, Perrot A, et al. Primary plasma cell leukemias displaying t(11;14) have specific genomic, transcriptional, and clinical features. Blood, 2022, 139(17): 2666-2672.
39. van Weelderen RE, Harrison CJ, Klein K, et al. Optimized cytogenetic risk-group stratification of KMT2A-rearranged pediatric acute myeloid leukemia. Blood Adv, 2024, 8(12): 3200-3213.
40. Panagopoulos I, Andersen K, Johannsdottir IMR, et al. Genetic characterization of pediatric mixed phenotype acute leukemia (MPAL). Cancer Genomics Proteomics, 2024, 21(1): 1-11.
41. Yamamoto K, Yakushijin K, Mizutani Y, et al. Expression of a novel type of KMT2A/EPS15 fusion transcript in FLT3 mutation-positive B-lymphoblastic leukemia with t(1;11)(p32;q23). Cancer Genet, 2021(254/255): 92-97.
42. Wang Q, Wu LL, Dai HP, et al. Correlation between expression of SIL-TAL1 fusion gene and deletion of 6q in T-cell acute lymphoblastic leukemia. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2014, 22(6): 1508-1513.
43. Sabir N, Iqbal Z, Aleem A, et al. Prognostically significant fusion oncogenes in Pakistani patients with adult acute lymphoblastic leukemia and their association with disease biology and outcome. Asian Pac J Cancer Prev, 2012, 13(7): 3349-3355.
44. Dierlamm J, Stefanova M, Wlodarska I, et al. Chromosomal gains and losses are uncommon in hairy cell leukemia: a study based on comparative genomic hybridization and interphase fluorescence in situ hybridization. Cancer Genet Cytogenet, 2001, 128(2):164-167.
45. Iolascon A, Faienza MF, Coppola B, et al. Frequent clonal loss of heterozygosity (LOH) in the chromosomal region 1p32 occurs in childhood T cell acute lymphoblastic leukemia (T-ALL) carrying rearrangements of the TAL1 gene. Leukemia, 1997, 11(3): 359-363.
46. Bernard O, Guglielmi P, Jonveaux P, et al. Two distinct mechanisms for the SCL gene activation in the t(1;14) translocation of T-cell leukemias. Genes Chromosomes Cancer, 1990, 1(3): 194-208.
47. Finger LR, Kagan J, Christopher G, et al. Involvement of the TCL5 gene on human chromosome 1 in T-cell leukemia and melanoma. Proc Natl Acad Sci U S A, 1989, 86(13): 5039-5043.
48. Cheung KJ, Delaney A, Ben-Neriah S, et al. High resolution analysis of follicular lymphoma genomes reveals somatic recurrent sites of copy-neutral loss of heterozygosity and copy number alterations that target single genes. Genes Chromosomes Cancer, 2010, 49(8): 669-681.
49. Zhang M, Swanson PC. V(D)J recombinase binding and cleavage of cryptic recombination signal sequences identified from lymphoid malignancies. J Biol Chem, 2008, 283(11): 6717-6727.
50. Flordal Thelander E, Ichimura K, Collins VP, et al. Detailed assessment of copy number alterations revealing homozygous deletions in 1p and 13q in mantle cell lymphoma. Leuk Res, 2007, 31(9): 1219-1230.
51. Zhou Y, Ye H, Martin-Subero JI, et al. The pattern of genomic gains in salivary gland MALT lymphomas. Haematologica, 2007, 92(7): 921-927.
52. Batista DA, Vonderheid EC, Hawkins A, et al. Multicolor fluorescence in situ hybridization (SKY) in mycosis fungoides and Sézary syndrome: search for recurrent chromosome abnormalities. Genes Chromosomes Cancer, 2006, 45(4): 383-391.
53. Perotti D, Pettenella F, Luksch R, et al. Molecular analysis of 1p32 genetic involvement in pediatric T-cell non-Hodgkin’s lymphoma. Haematologica, 1999, 84(2): 110-113.
54. Siu LL, Wong KF, Chan JK, et al. Comparative genomic hybridization analysis of natural killer cell lymphoma/leukemia. Recognition of consistent patterns of genetic alterations. Am J Pathol, 1999, 155(5): 1419-1425.
55. Offit K, Jhanwar SC, Ladanyi M, et al. Cytogenetic analysis of 434 consecutively ascertained specimens of non-Hodgkin’s lymphoma: correlations between recurrent aberrations, histology, and exposure to cytotoxic treatment. Genes Chromosomes Cancer, 1991, 3(3): 189-201.
56. Offit K, Wong G, Filippa DA, et al. Cytogenetic analysis of 434 consecutively ascertained specimens of non-Hodgkin’s lymphoma: clinical correlations. Blood, 1991, 77(7): 1508-1515.
57. Marth JD, Disteche C, Pravtcheva D, et al. Localization of a lymphocyte-specific protein tyrosine kinase gene (lck) at a site of frequent chromosomal abnormalities in human lymphomas. Proc Natl Acad Sci U S A, 1986, 83(19): 7400-7404.
58. Cui J, Li X, Deng S, et al. Identification of therapy-induced clonal evolution and resistance pathways in minimal residual clones in multiple myeloma through single-cell sequencing. Clin Cancer Res, 2024, 30(17): 3919-3936.
59. Manios K, Chrysovergis A, Papanikolaou V, et al. Impact of C-FOS/C-JUN transcriptional factors co-expression in non-small cell lung carcinoma. Cancer Diagn Progn, 2025, 5(1): 15-20.
60. Chizhikov V, Zborovskaya I, Laktionov K, et al. Two consistently deleted regions within chromosome 1p32-pter in human non-small cell lung cancer. Mol Carcinog, 2001, 30(3): 151-158.
61. Gasparian AV, Laktionov KK, Belialova MS, et al. Allelic imbalance and instability of microsatellite loci on chromosome 1p in human non-small-cell lung cancer. Br J Cancer, 1998, 77(10): 1604-1611.
62. Fong KM, Kida Y, Zimmerman PV, et al. MYCL genotypes and loss of heterozygosity in non-small-cell lung cancer. Br J Cancer, 1996, 74(12): 1975-1978.
63. Harder KW, Saw J, Miki N, et al. Coexisting amplifications of the chromosome 1p32 genes (PTPRF and MYCL1) encoding protein tyrosine phosphatase LAR and L-myc in a small cell lung cancer line. Genomics, 1995, 27(3): 552-553.
64. Sugur H, Shastry AH, Sadashiva N, et al. Chromosomal aberrations in chordoid meningioma - an analysis. Neurol India, 2018, 66(1): 156-160.
65. Sadashiva N, Sugur H, Srinivas D, et al. Chromosomal aberrations in atypical and anaplastic meningiomas: a fluorescence in situ hybridization study. Neurol India, 2015, 63(4): 517-523.
66. Leuraud P, Marie Y, Robin E, et al. Frequent loss of 1p32 region but no mutation of the p18 tumor suppressor gene in meningiomas. J Neurooncol, 2000, 50(3): 207-213.
67. Thway K. Well-differentiated liposarcoma and dedifferentiated liposarcoma: an updated review. Semin Diagn Pathol, 2019, 36(2): 112-121.
68. Thway K, Jones RL, Noujaim J, et al. Dedifferentiated liposarcoma: updates on morphology, genetics, and therapeutic strategies. Adv Anat Pathol, 2016, 23(1): 30-40.
69. Hiyama E, Hiyama K, Ohtsu K, et al. Biological characteristics of neuroblastoma with partial deletion in the short arm of chromosome 1. Med Pediatr Oncol, 2001, 36(1): 67-74.
70. Ohtsu K, Hiyama E, Ichikawa T, et al. Clinical investigation of neuroblastoma with partial deletion in the short arm of chromosome 1. Clin Cancer Res, 1997, 3(7): 1221-1228.
71. Christiansen H, Lampert F. Tumour karyotype discriminates between good and bad prognostic outcome in neuroblastoma. Br J Cancer, 1988, 57(1): 121-126.
72. Rao PH, Roberts D, Zhao YJ, et al. Deletion of 1p32-p36 is the most frequent genetic change and poor prognostic marker in adenoid cystic carcinoma of the salivary glands. Clin Cancer Res, 2008, 14(16): 5181-5187.
73. Corral-Juan M, Serrano-Munuera C, Rábano A, et al. Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37. Brain, 2018, 141(7): 1981-1997.
74. Seixas AI, Loureiro JR, Costa C, et al. A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapping to SCA37, causes spinocerebellar ataxia. Am J Hum Genet, 2017, 101(1): 87-103.
75. Jiang M, Wang S, Li F, et al. A novel 1p33p32. 2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: a case report. Medicine (Baltimore), 2020, 99(45): e23033.
76. Schirwani S, Smith K, Balasubramanian M. Clinical and molecular characterization of the first familial report of 1p32 microdeletion. Clin Dysmorphol, 2018, 27(2): 36-41.
77. Revah-Politi A, Ganapathi M, Bier L, et al. Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: a four patient series. Am J Med Genet A, 2017, 173(12): 3158-3164.
78. Labonne JD, Shen Y, Kong IK, et al. Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability. Mol Cytogenet, 2016, 9: 24.
79. Kehrer M, Sch?ferhoff K, Bonin M, et al. Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies. Am J Med Genet A, 2015, 167A (10): 2406-2410.
80. Seidah NG. The PCSK9 discovery, an inactive protease with varied functions in hypercholesterolemia, viral infections, and cancer. J Lipid Res, 2021, 62: 100130.
81. Tsai CW, North KE, Tin A, et al. Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians. J Clin Endocrinol Metab, 2015, 100(2): E345-E349.
82. Li C, He J, Chen J, et al. Genome-wide gene-potassium interaction analyses on blood pressure: the GenSalt study (genetic epidemiology network of salt sensitivity). Circ Cardiovasc Genet, 2017, 10(6): e001811.
83. Ghazali N, Rahman NA, Kannan TP, et al. Identification of copy neutral loss of heterozygosity on chromosomes 1p, 1q, and 6p among nonsyndromic cleft lip and/or without cleft palate with hypodontia. BMC Oral Health, 2023, 23(1): 945.
84. Yu Y, Zhen Q, Chen W, et al. Genome-wide meta-analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population. Mol Genet Genomic Med, 2023, 11(10): e2226.
85. Peng Q, Ehlers CL. Long tracks of homozygosity predict the severity of alcohol use disorders in an American Indian population. Mol Psychiatry, 2021, 26(6): 2200-2211.
86. Wang KS, Liu X, Zhang Q, et al. A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence. J Psychiatr Res, 2011, 45(11): 1419-1425.
87. Yu MC, Lee CW, Lee YS, et al. Prediction of early-stage hepatocellular carcinoma using OncoScan chromosomal copy number aberration data. World J Gastroenterol, 2017, 23(44): 7818-7829.
88. Matsuzaki M, Nagase S, Abe T, et al. Detailed deletion mapping on chromosome 1p32-p36 in human colorectal cancer: identification of three distinct regions of common allelic loss. Int J Oncol, 1998, 13(6): 1229-1233.
89. Ogunbiyi OA, Goodfellow PJ, Gagliardi G, et al. Prognostic value of chromosome 1p allelic loss in colon cancer. Gastroenterology, 1997, 113(3): 761-766.
90. El Naofal M, Kim A, Yon HY, et al. Role of CDKN2C fluorescence in situ hybridization in the management of medullary thyroid carcinoma. Ann Clin Lab Sci, 2017, 47(5): 523-528.
91. Samaan NA, Yang KP, Schultz P, et al. Diagnosis, management, and pathogenetic studies in medullary thyroid carcinoma syndrome. Henry Ford Hosp Med J, 1989, 37(3/4): 132-137.
92. Tong Y, Merino D, Nimmervoll B, et al. Cross-species genomics identifies TAF12, NFYC, and RAD54L as choroid plexus carcinoma oncogenes. Cancer Cell, 2015, 27(5): 712-727.
93. Mastronikolis N, Chrysovergis A, Papanikolaou V, et al. C-jun transcription factor oncogenic activation in oral carcinoma. Maedica (Bucur), 2024, 19(2): 350-354.
94. Williams EA, Sharaf R, Decker B, et al. CDKN2C-null leiomyosarcoma: a novel, genomically distinct class of TP53/RB1-wild-type tumor with frequent cic genomic alterations and 1p/19q-codeletion. JCO Precis Oncol, 2020, 4: PO. 20.00040.
95. Bièche I, Khodja A, Lidereau R. Deletion mapping of chromosomal region 1p32-pter in primary breast cancer. Genes Chromosomes Cancer, 1999, 24(3): 255-263.
96. el-Rifai W, Tarmo L, Hemmer S, et al. DNA copy number losses at 1p32-pter in monozygotic twins concordant for breast cancer. Cancer Genet Cytogenet, 1999, 112(2): 169-172.
97. Bieche I, Khodja A, Lidereau R. Deletion mapping in breast tumor cell lines points to two distinct tumor-suppressor genes in the 1p32-pter region, one of deleted regions (1p36. 2) being located within the consensus region of LOH in neuroblastoma. Oncol Rep, 1998, 5(1): 267-272.
98. Bièche I, Champème MH, Lidereau R. A tumor suppressor gene on chromosome 1p32-pter controls the amplification of MYC family genes in breast cancer. Cancer Res, 1994, 54(16): 4274-4276.
99. Chamberlain MC, Born D. Prognostic significance of relative 1p/19q codeletion in oligodendroglial tumors. J Neurooncol, 2015, 125(2): 249-251.
100. Scelo G, Purdue MP, Brown KM, et al. Genome-wide association study identifies multiple risk loci for renal cell carcinoma. Nat Commun, 2017, 8: 15724.
101. Bibi F, Ali I, Naseer MI, et al. Detection of genetic alterations in gastric cancer patients from Saudi Arabia using comparative genomic hybridization (CGH). PLoS One, 2018, 13(9): e0202576.
102. Liu Y, Gao X, Cao L, et al. Exploration of the causative gene in a case of multiple nevoid basal cell carcinoma: a case report. Rare Tumors, 2024, 16: 20363613241290394.
103. Arlt MF, Li M, Herzog TJ, et al. A 1-Mb bacterial clone contig spanning the endometrial cancer deletion region at 1p32-p33. Genomics, 1999, 57(1): 62-69.
104. Deming Y, Li Z, Kapoor M, et al. Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers. Acta Neuropathol, 2017, 133(5): 839-856.
105. Dellepiane RM, Dell’Era L, Pavesi P, et al. Invasive meningococcal disease in three siblings with hereditary deficiency of the 8(th) component of complement: evidence for the importance of an early diagnosis. Orphanet J Rare Dis, 2016, 11(1): 64.
106. Shen JZ, Ge WH, Fang Y, et al. A novel polymorphism in protein kinase AMP-activated catalytic subunit alpha 2 (PRKAA2) is associated with type 2 diabetes in the Han Chinese population. J Diabetes, 2017, 9(6): 606-612.
107. Luo Y, Lu H, Zhang Y, et al. A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes. Mol Cytogenet, 2022, 15(1): 37.
108. Krause MD, Huang RT, Wu D, et al. Genetic variant at coronary artery disease and ischemic stroke locus 1p32. 2 regulates endothelial responses to hemodynamics. Proc Natl Acad Sci U S A, 2018, 115(48): E11349-E11358.
109. Zhou J, Zhu L. Shared genetic links between hypothyroidism and psychiatric disorders: evidence from a comprehensive genetic analysis. Front Endocrinol (Lausanne), 2024, 15: 1370019.
110. Yoon JG, Hahn HM, Choi S, et al. Molecular diagnosis of craniosynostosis using targeted next-generation sequencing. Neurosurgery, 2020, 87(2): 294-302.
111. Prontera P, Rogaia D, Mencarelli A, et al. Juvenile moyamoya and craniosynostosis in a child with deletion 1p32p31: expanding the clinical spectrum of 1p32p31 deletion syndrome and a review of the literature. Int J Mol Sci, 2017, 18(9): 1998.
112. Smedley D, Hamoudi R, Lu YJ, et al. Cloning and mapping of members of the MYM family. Genomics, 1999, 60(2): 244-247.
113. Penney KL, Townsend MK, Turman C, et al. Genome-wide association study for urinary and fecal incontinence in women. J Urol, 2020, 203(5): 978-983.
114. Wang RX, Zhang HG, Pan Y, et al. Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling. Genet Mol Res, 2016, 15(4): 1-7.
115. Negishi Y, Miya F, Hattori A, et al. Truncating mutation in NFIA causes brain malformation and urinary tract defects. Hum Genome Var, 2015, 2: 15007.
116. Ahmad S, Imtiaz MA, Mishra A, et al. Genome-wide association study meta-analysis of neurofilament light (NfL) levels in blood reveals novel loci related to neurodegeneration. Commun Biol, 2024, 7(1): 1103.
117. Zhang JS, Longo FM. LAR tyrosine phosphatase receptor: alternative splicing is preferential to the nervous system, coordinated with cell growth and generates novel isoforms containing extensive CAG repeats. J Cell Biol, 1995, 128(3): 415-431.
118. Gong W, Guo P, Li Y, et al. Role of the gut-brain axis in the shared genetic etiology between gastrointestinal tract diseases and psychiatric disorders: a genome-wide pleiotropic analysis. JAMA Psychiatry, 2023, 80(4): 360-370.
119. Doraczynska-Kowalik A, Nelke KH, Pawlak W, et al. Genetic factors involved in mandibular prognathism. J Craniofac Surg, 2017, 28(5): e422-e431.

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