Category: Mutation Spectrum

LitAlert ~~ GeneLit.com

    • A Case Report of Breast Implant-Associated Anaplastic Large-Cell Lymphoma in a PALB2 Mutation-Positive Woman.
    • Bonev V.
    • Am Surg. 2021 Apr 15:31348211011056. doi: 10.1177/00031348211011056. Epub ahead of print.
    • Case report

    • Germline mutations and age at onset of lung adenocarcinoma.
    • Reckamp KL, Behrendt CE, Slavin TP, Gray SW, Castillo DK, Koczywas M, Cristea MC, Babski KM, Stearns D, Marcum CA, Rodriguez YP, Hass AJ, Vecchio MM, Mora P, Cervantes AE, Sand SR, Mejia RM, Tsou TC, Salgia R, Weitzel JN.
    • Cancer. 2021 Apr 15. doi: 10.1002/cncr.33573. Epub ahead of print.

    • Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.
    • Whitworth J, Casey RT, Smith PS, Giger O, Martin JE, Clark G, Cook J, Fernando MS, Taniere P; NIHR BioResource, Maher ER.
    • Eur J Hum Genet. 2021 Apr 15. doi: 10.1038/s41431-021-00862-5. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Single nucleotide polymorphisms in breast cancer susceptibility gene 1 are associated with susceptibility to lung cancer.
    • Liu D, Gao Y, Li L, Chen H, Bai L, Qu Y, Zhou B, Yan Y, Zhao Y.
    • Oncol Lett. 2021 May;21(5):424. doi: 10.3892/ol.2021.12685. Epub 2021 Mar 29.

    • The Screen Project: Guided Direct-To-Consumer Genetic Testing for Breast Cancer Susceptibility in Canada.
    • Narod SA, Gojska N, Sun P, Tryon A, Kotsopoulos J, Metcalfe K, Akbari MR.
    • Cancers (Basel). 2021 Apr 15;13(8):E1894. doi: 10.3390/cancers13081894.

    • Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
    • Singhal D, Hahn CN, Feurstein S, Wee LYA, Moma L, Kutyna MM, Chhetri R, Eshraghi L, Schreiber AW, Feng J, Wang PP, Babic M, Parker WT, Gao S, Moore S, Das S, Thomas D, Pattnaik S, Brown AL, D'Andrea RJ, Poplawski NK, Thomas D, Scott HS, Godley LA, Hiwase DK.
    • Leukemia. 2021 Apr 13. doi: 10.1038/s41375-021-01246-w. Epub ahead of print.

    • Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients.
    • Ji G, Yao Q, Bao L, Zhang J, Bai Q, Zhu X, Tu X, Bi R, Zhou X.
    • Ann Transl Med. 2021 Mar;9(6):453. doi: 10.21037/atm-20-6827.

    • Narrative review: predicting future molecular and clinical profiles of prostate cancer in the United States.
    • Santoni M, Cimadamore A, Massari F, Sorgentoni G, Cheng L, Lopez-Beltran A, Battelli N, Montironi R.
    • Transl Androl Urol. 2021 Mar;10(3):1562-1568. doi: 10.21037/tau-20-1439.

    • High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
    • Evans G, van Veen EM, Byers HJ, Evans SJ, Burghel GJ, Woodward ER, Harkness EF, Eccles DM, Greville-Haygate SL, Ellingford JM, Bowers NL, Pereira M, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
    • J Med Genet. 2021 Mar 23:jmedgenet-2020-107347. doi: 10.1136/jmedgenet-2020-107347. Epub ahead of print.

    • Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
    • Seppälä TT, Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vida JB, Kariv R, Rosner G, Piñero TA, Pavicic W, Kalfayan P, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Redler S, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Hopper JL, Win AK, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Wadt KAW, Mourits MJE, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Rokkones E, Sampson JR, Evans DG, Møller P.
    • Eur J Cancer. 2021 Mar 17;148:124-133. doi: 10.1016/j.ejca.2021.02.022. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Outcomes of incidentally detected ovarian cancers diagnosed at time of risk-reducing salpingo-oophorectomy in BRCA mutation carriers.
    • Cowan R, Nobre SP, Pradhan N, Yasukawa M, Zhou QC, Iasonos A, Soslow RA, Arnold AG, Trottier M, Catchings A, Long Roche K, Gardner G, Robson M, Abu Rustum NR, Aghajanian C, Cadoo K.
    • Gynecol Oncol. 2021 Mar 9:S0090-8258(21)00142-6. doi: 10.1016/j.ygyno.2021.02.006. Epub ahead of print.

    • Germline structural variations in cancer predisposition genes.
    • Bozsik A, Pócza T, Grolmusz VK, Papp J, Butz H, Patócs A.
    • Front Genet. 2021 Mar 8;21:634217. doi: 10.3389/fgene.2021.634217.

    • Genetic Testing for Breast and Ovarian Cancer: What Has Changed and What Still Needs To Change?
    • Lyss AP.
    • Medscape. News & Perspective. 2021 Mar 8.

    Related:

    Original research:

    Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.

    • Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
    • Zimmermann MT, Mathison AJ, Stodola T, Evans DB, Abrudan JL, Demos W, Tschannen M, Aldakkak M, Geurts J, Lomberk G, Tsai S, Urrutia R.
    • Front Oncol. 2021 Mar 5;10:606820. doi: 10.3389/fonc.2021.606820.

    • LitAlert ~~ GeneLit.com

    • The Importance of Learning Your Pancreatic Cancer Risk When Cancer Runs in Your Family.
    • Coffin T.
    • FORCE. Blog. 2021 Mar 2.

    • Molecular characterization of high-grade serous ovarian cancers occurring in younger and older women.
    • Filippova OT, Selenica P, Pareja F, Vahdatinia M, Zhu Y, Pei X, Riaz N, Long Roche K, Chi DS, Abu-Rustum NR, Ellenson LH, Reis-Filho JS, Zamarin D.
    • Gynecol Oncol. 2021 Mar 2:S0090-8258(21)00173-6. doi: 10.1016/j.ygyno.2021.02.028. Epub ahead of print.

    • Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.
    • Lertwilaiwittaya P, Roothumnong E, Nakthong P, Dungort P, Meesamarnpong C, Tansa-Nga W, Pongsuktavorn K, Wiboonthanasarn S, Tititumjariya W, Thongnoppakhun W, Chanprasert S, Limwongse C, Pithukpakorn M.
    • Breast Cancer Res Treat. 2021 Mar 1. doi: 10.1007/s10549-021-06152-4. Epub ahead of print.

    • Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.
    • George SHL, Donenberg T, Alexis C, DeGennaro V Jr, Dyer H, Yin S, Ali J, Butler R, Chin SN, Curling D, Lowe D, Lunn J, Turnquest T, Wharfe G, Cerbon D, Barreto-Coelho P, Schlumbrecht MP, Akbari MR, Narod SA, Hurley JE.
    • JAMA Netw Open. 2021 Mar 1;4(3):e210307. doi: 10.1001/jamanetworkopen.2021.0307.

    • Loss of BRCA1 expression and morphological features associated with BRCA1 promoter methylation status in triple-negative breast cancer.
    • Morizono A, Tanabe M, Ikemura M, Sasaki T, Ushiku T, Seto Y.
    • J Hum Genet. 2021 Feb 27. doi: 10.1038/s10038-021-00911-3. Epub ahead of print.

    • Therapeutic Potential of Olaparib in Combination With Pembrolizumab in a Young Patient With a Maternally Inherited BRCA2 Germline Variant: A Research Report.
    • Waddington T, Mambetsariev I, Pharaon R, Fricke J, Baroz AR, Romo H, Ghanem B, Gray S, Salgia R.
    • Clin Lung Cancer. 2021 Jan 27:S1525-7304(21)00012-7. doi: 10.1016/j.cllc.2021.01.009. Epub ahead of print.
    • Case report

    • Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia.
    • Hallenstein LG, Sorensen C, Hodgson L, Wen S, Westhuyzen J, Hansen C, Last ATJ, Amalaseelan JV, Salindera S, Ross W, Spigelman AD, Shakespeare TP, Aherne NJ.
    • Hered Cancer Clin Pract. 2021 Feb 26;19(1):19. doi: 10.1186/s13053-021-00176-z.