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    FANCM FA complementation group M [ Homo sapiens (human) ]

    Gene ID: 57697, updated on 7-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.

    FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.
    Figlioli G, Billaud A, Ahearn TU, Antonenkova NN, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blok MJ, Bogdanova NV, Bonanni B, Burwinkel B, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chanock SJ, NBCS Collaborators, Czene K, Devilee P, Dörk T, Engel C, Eriksson M, Fasching PA, Figueroa JD, Gabrielson M, Gago-Dominguez M, García-Closas M, González-Neira A, Grassmann F, Guénel P, Gündert M, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Harrington PA, He W, Hillemanns P, Hollestelle A, Hooning MJ, Hoppe R, Howell A, Humphreys K, KConFab Investigators, Jager A, Jakubowska A, Khusnutdinova EK, Ko YD, Kristensen VN, Lindblom A, Lissowska J, Lubiński J, Mannermaa A, Manoukian S, Margolin S, Mavroudis D, Newman WG, Obi N, Panayiotidis MI, Rashid MU, Rhenius V, Rookus MA, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sironen R, Southey MC, Suvanto M, Tollenaar RAEM, Tomlinson I, Truong T, van der Kolk LE, van Veen EM, Wappenschmidt B, Yang XR, Bolla MK, Dennis J, Dunning AM, Easton DF, Lush M, Michailidou K, Pharoah PDP, Wang Q, Adank MA, Schmidt MK, Andrulis IL, Chang-Claude J, Nevanlinna H, Chenevix-Trench G, Evans DG, Milne RL, Radice P, Peterlongo P., Free PMC Article

    05/14/2023
    Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan.

    Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan.
    Rashid MU, Muhammad N, Shehzad U, Khan FA, Loya A, Hamann U.

    01/14/2023
    A Genome-Wide Association Study for Hypertensive Kidney Disease in Korean Men.

    A Genome-Wide Association Study for Hypertensive Kidney Disease in Korean Men.
    Kim HR, Jin HS, Eom YB., Free PMC Article

    08/28/2021
    FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.

    FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.
    Cannon-Albright LA, Teerlink CC, Stevens J, Snow AK, Thompson BA, Bell R, Nguyen KN, Sargent NR, Kohlmann WK, Neklason DW, Tavtigian SV., Free PMC Article

    06/26/2021
    FANCM suppresses DNA replication stress at ALT telomeres by disrupting TERRA R-loops.

    FANCM suppresses DNA replication stress at ALT telomeres by disrupting TERRA R-loops.
    Pan X, Chen Y, Biju B, Ahmed N, Kong J, Goldenberg M, Huang J, Mohan N, Klosek S, Parsa K, Guh CY, Lu R, Pickett HA, Chu HP, Zhang D., Free PMC Article

    12/5/2020
    DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain.

    DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain.
    Zhang J, Bellani MA, James RC, Pokharel D, Zhang Y, Reynolds JJ, McNee GS, Jackson AP, Stewart GS, Seidman MM., Free PMC Article

    09/26/2020
    Following introduction of genomic interstrand crosslinks and dependent on ATR and FANCD2 but not on the Fanconi anemia core proteins or FAAP24, FANCM binds the replisome complex.

    Remodeling of Interstrand Crosslink Proximal Replisomes Is Dependent on ATR, FANCM, and FANCD2.
    Huang J, Zhang J, Bellani MA, Pokharel D, Gichimu J, James RC, Gali H, Ling C, Yan Z, Xu D, Chen J, Meetei AR, Li L, Wang W, Seidman MM., Free PMC Article

    07/4/2020
    The expression and activity of FANCM, a DNA translocase protein, is essential for the viability of Alternative Lengthening of Telomeres (ALT)-associated cancers.

    ALT control, delete: FANCM as an anti-cancer target in Alternative Lengthening of Telomeres.
    O'Rourke JJ, Bythell-Douglas R, Dunn EA, Deans AJ., Free PMC Article

    05/16/2020
    FANCM is a tumor suppressor gene that encodes a conserved and structure-specific DNA translocase. [review]

    A tumor suppressive DNA translocase named FANCM.
    Basbous J, Constantinou A.

    12/7/2019
    this study discovered a remarkably high frequency of truncating variants in FANCM (2.1%), which has recently been suggested as a susceptibility gene for hereditary breast cancer.

    The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.
    Schubert S, van Luttikhuizen JL, Auber B, Schmidt G, Hofmann W, Penkert J, Davenport CF, Hille-Betz U, Wendeburg L, Bublitz J, Tauscher M, Hackmann K, Schröck E, Scholz C, Wallaschek H, Schlegelberger B, Illig T, Steinemann D.

    09/7/2019
    INO80 chromatin remodeler cooperates with FANCM to mediate DNA interstrand crosslink-induced checkpoint activation and repair

    Mammalian INO80 chromatin remodeler cooperates with FANCM to mediate DNA interstrand crosslink-induced checkpoint activation and repair.
    Andreev V, Hristova R, Asparuhova M, Danovski G, Stoynov S, Gospodinov A.

    07/20/2019
    FANCM allows controlled Alternative Lengthening of Telomeres activity and Alternative Lengthening of Telomeres cell proliferation by limiting the toxicity of uncontrolled BLM and telomeric R-loops.

    FANCM limits ALT activity by restricting telomeric replication stress induced by deregulated BLM and R-loops.
    Silva B, Pentz R, Figueira AM, Arora R, Lee YW, Hodson C, Wischnewski H, Deans AJ, Azzalin CM., Free PMC Article

    06/22/2019
    FANCM pathogenic variants have also been linked with doubled risk of familial breast and ovarian cancer.

    Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.
    Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, Punab AM, Aston KI, Carvalho F, Laasik E, Smith LB, GEMINI Consortium, Conrad DF, Laan M., Free PMC Article

    05/18/2019
    The loss-of-function FANCM pathogenic variants (PV) increased ICL sensitivity in lymphocytes of patients and Fancm(DeltaC/DeltaC) spermatogonia.neither bone marrow failure nor cancer/tumor was detected in all the patients or adult Fancm(DeltaC/DeltaC) mice. These findings revealed male infertility to be a novel phenotype of human patients with a biallelic FANCM PV.

    A homozygous FANCM frameshift pathogenic variant causes male infertility.
    Yin H, Ma H, Hussain S, Zhang H, Xie X, Jiang L, Jiang X, Iqbal F, Bukhari I, Jiang H, Ali A, Zhong L, Li T, Fan S, Zhang B, Gao J, Li Y, Nazish J, Khan T, Khan M, Zubair M, Hao Q, Fang H, Huang J, Huleihel M, Sha J, Pandita TK, Zhang Y, Shi Q., Free PMC Article

    03/16/2019
    Our study of the Polish and Ukrainian populations has identified a carrier frequency of truncating mutations in FANCM and breast cancer susceptibility.

    FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.
    Nguyen-Dumont T, Myszka A, Karpinski P, Sasiadek MM, Akopyan H, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Kitsera N, Siekierzynska A, Southey MC., Free PMC Article

    12/22/2018
    FANCM expression is a prognostic factor for overall survival in luminal B breast cancer in Chinese patients.

    Correlation of FANCM expression with clinical factors in luminal B breast cancer.
    Wang Y, Wang J, Long F, Wang N, Zhang B, Han H, Wang Y.

    10/13/2018
    Our data indicate that biallelic FANCM mutations do not cause classical FA, providing proof that FANCM is not a canonical FA gene. FANCM is a breast cancer-predisposing gene. Mutation testing of FANCM might be considered for individuals with the above-described clinical features.

    Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
    Catucci I, Osorio A, Arver B, Neidhardt G, Bogliolo M, Zanardi F, Riboni M, Minardi S, Pujol R, Azzollini J, Peissel B, Manoukian S, De Vecchi G, Casola S, Hauke J, Richters L, Rhiem K, Schmutzler RK, Wallander K, Törngren T, Borg Å, Radice P, Surrallés J, Hahnen E, Ehrencrona H, Kvist A, Benitez J, Peterlongo P.

    09/29/2018
    Loss-of-function mutations in FANCM cause a cancer predisposition syndrome clinically distinct from bona fide FA. Care should be taken with chemotherapy and radiation treatments in these patients due to expected acute toxicity.

    Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.
    Bogliolo M, Bluteau D, Lespinasse J, Pujol R, Vasquez N, d'Enghien CD, Stoppa-Lyonnet D, Leblanc T, Soulier J, Surrallés J.

    09/29/2018
    Two FANCM truncating mutations, the c.1432C>T (p.Arg478Ter) and c.1972C>T (p.Arg658Ter), were identified in two Male Breast Cancer cases (0.7%). When specifically considering cases at increased genetic risk for BC, FANCM mutation frequency raises up to 1%. Rare FANCM truncating mutations, other than c.5101C>T and c.5791C>T, may have a role in MBC susceptibility.

    A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy.
    Silvestri V, Rizzolo P, Zelli V, Valentini V, Zanna I, Bianchi S, Tibiletti MG, Varesco L, Russo A, Tommasi S, Coppa A, Capalbo C, Calistri D, Viel A, Cortesi L, Manoukian S, Bonanni B, Montagna M, Palli D, Radice P, Peterlongo P, Ottini L.

    09/22/2018
    Mutation in FANCM gene is associated with non-syndromic primary ovarian insufficiency.

    A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
    Fouquet B, Pawlikowska P, Caburet S, Guigon C, Mäkinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M., Free PMC Article

    09/15/2018
    These results support the role of FANCM as a breast cancer susceptibility gene, particularly for triple-negative breast cancer.

    FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population.
    Kiiski JI, Tervasmäki A, Pelttari LM, Khan S, Mantere T, Pylkäs K, Mannermaa A, Tengström M, Kvist A, Borg Å, Kosma VM, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Winqvist R, Nevanlinna H., Free PMC Article

    06/2/2018
    FANCM is actively recruited to the alternative lengthening of telomeres that are experiencing replication stress.

    FANCM, BRCA1, and BLM cooperatively resolve the replication stress at the ALT telomeres.
    Pan X, Drosopoulos WC, Sethi L, Madireddy A, Schildkraut CL, Zhang D., Free PMC Article

    05/26/2018
    we demonstrated that FANCM is a direct target of miR146a

    miR146a-mediated targeting of FANCM during inflammation compromises genome integrity.
    Sundaravinayagam D, Kim HR, Wu T, Kim HH, Lee HS, Jun S, Cha JH, Kee Y, You HJ, Lee JH., Free PMC Article

    01/13/2018
    This case-control study included 2047 BRCA1 and BRCA2-negative familial breast cancer cases and 2187 controls and revealed an association of FANCM mutations with breast cancer. More pronounced associations were identified for early-onset (before age 51 years) breast cancer and triple-negative breast cancer.

    Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.
    Neidhardt G, Hauke J, Ramser J, Groß E, Gehrig A, Müller CR, Kahlert AK, Hackmann K, Honisch E, Niederacher D, Heilmann-Heimbach S, Franke A, Lieb W, Thiele H, Altmüller J, Nürnberg P, Klaschik K, Ernst C, Ditsch N, Jessen F, Ramirez A, Wappenschmidt B, Engel C, Rhiem K, Meindl A, Schmutzler RK, Hahnen E., Free PMC Article

    09/30/2017
    FANCM c.5101C > T nonsense mutation carriers have a reduced breast cancer survival but postoperative radiotherapy may diminish this survival disadvantage.

    FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome.
    Kiiski JI, Fagerholm R, Tervasmäki A, Pelttari LM, Khan S, Jamshidi M, Mantere T, Pylkäs K, Bartek J, Bartkova J, Mannermaa A, Tengström M, Kosma VM, Winqvist R, Kallioniemi A, Aittomäki K, Blomqvist C, Nevanlinna H., Free PMC Article

    04/29/2017
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