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    • Commentary
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    • Details Emerge About Why Cancers Caused by BRCA Mutations Recur.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Nov 16.

    Related:

    •• Original research:

    Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

    • BRCA2 gene mutation in cancer.
    • Xie C, Luo J, He Y, Jiang L, Zhong L, Shi Y.
    • Medicine (Baltimore). 2022 Nov 11;101(45):e31705. doi: 10.1097/MD.0000000000031705.
    • Reproductive risk factors associated with breast cancer in young women by molecular subtype.
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    • Breast. 2022 Nov 9;66:272-277. doi: 10.1016/j.breast.2022.11.004. Epub ahead of print.
    • A genome-wide association study of mammographic texture variation.
    • Liu Y, Chen H, Heine J, Lindstrom S, Turman C, Warner ET, Winham SJ, Vachon CM, Tamimi RM, Kraft P, Jiang X.
    • Breast Cancer Res. 2022 Nov 7;24(1):76. doi: 10.1186/s13058-022-01570-8.
    • Polygenic risk scores for prediction of breast cancer in Korean women.
    • Jee YH, Ho WK, Park S, Easton DF, Teo SH, Jung KJ, Kraft P.
    • Int J Epidemiol. 2022 Nov 7:dyac206. doi: 10.1093/ije/dyac206. Epub ahead of print.
    • Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
    • Shah JB, Pueschl D, Wubbenhorst B, Fan M, Pluta J, D'Andrea K, Hubert AP, Shilan JS, Zhou W, Kraya AA, Llop Guevara A, Ruan C, Serra V, Balmaña J, Feldman M, Morin PJ, Nayak A, Maxwell KN, Domchek SM, Nathanson KL.
    • Nat Commun. 2022 Nov 7;13(1):6728. doi: 10.1038/s41467-022-34523-y.

    Related:

    •• Research news: Details Emerge About Why Cancers Caused by BRCA Mutations Recur. (Inside Precision Medicine)

    • Prognostic impact of germline BRCA1/2 pathogenic variants in breast cancer.
    • Corso G, Girardi A, Calvello M, Gandini S, Gaeta A, Marabelli M, Magnoni F, Veronesi P, Guerrieri-Gonzaga A, Bonanni B.
    • Breast Cancer Res Treat. 2022 Nov 4. doi: 10.1007/s10549-022-06776-0. Epub ahead of print.
    • Exquisitely Platinum-Sensitive Triple-Negative Breast Cancer, Time for BRCA Methylation Testing?
    • Tan TJ, Fink JL, Tay TK, Jaradi B, Stone N, Waring P, Koo KM, Tan PH, Tan DS, Dent RA.
    • JCO Precis Oncol. [2022 Nov 3];6:e2200309. doi: 10.1200/PO.22.00309.
    • Case report
    • Clinical application of artificial neural network (ANN) modeling to predict BRCA1/2 germline deleterious variants in Chinese bilateral primary breast cancer patients.
    • Li Y, Chen L, Lv J, Chen X, Zeng B, Chen M, Guo W, Lin Y, Yu L, Hou J, Li J, Zhou P, Zhang W, Li S, Jin X, Cai W, Zhang K, Huang Y, Wang C, Fu F.
    • BMC Cancer. 2022 Nov 2;22(1):1125. doi: 10.1186/s12885-022-10160-y.
    • BRCA1/2 Mutation Testing in Patients with HER2-Negative Advanced Breast Cancer: Real-World Data from the United States, Europe, and Israel.
    • Mahtani R, Niyazov A, Arondekar B, Lewis K, Rider A, Massey L, Lux MP.
    • Cancers (Basel). 2022 Nov 2;14(21):5399. doi: 10.3390/cancers14215399.
    • Use of Breast Cancer Risk Factors to Identify Risk-Adapted Starting Age of Screening in China.
    • Zheng Y, Dong X, Li J, Qin C, Xu Y, Wang F, Cao W, Xia C, Yu Y, Zhao L, Wu Z, Luo Z, Chen W, Li N, He J.
    • JAMA Netw Open. 2022 Nov 1;5(11):e2241441. doi: 10.1001/jamanetworkopen.2022.41441.

    Related:

    •• Commentary:

    Risk-Based Approaches to Breast Cancer Screening in China.

    • Breast cancer polygenic risk scores are associated with short-term risk of poor prognosis breast cancer.
    • McCarthy AM, Manning AK, Hsu S, Welch M, Moy B, Lehman CD, Armstrong K.
    • Breast Cancer Res Treat. 2022 Nov;196(2):389-398. doi: 10.1007/s10549-022-06739-5. Epub 2022 Sep 22.
    • Aromatase inhibitors and contralateral breast cancer in BRCA mutation carriers.
    • Nemati Shafaee M, Goutsouliak K, Lin H, Bevers TB, Gutierrez-Barrera A, Bondy M, Arun B.
    • Breast Cancer Res Treat. 2022 Nov;196(1):143-152. doi: 10.1007/s10549-022-06688-z. Epub 2022 Aug 25.
    • Genetic anticipation of breast cancer among BRCA1/BRCA2 mutation carriers: A retrospective study.
    • Kedmi A, Kadouri L, Sagy I, Hamburger T, Levin G, Zimhony-Nissim N, Peretz T.
    • Int J Gynaecol Obstet. 2022 Nov;159(2):537-543. doi: 10.1002/ijgo.14179. Epub 2022 Mar 23.
    • Real-World Study of Regional Differences in Patient Demographics, Clinical Characteristics, and BRCA1/2 Mutation Testing in Patients with Human Epidermal Growth Factor Receptor 2-Negative Advanced Breast Cancer in the United States, Europe, and Israel.
    • Mahtani R, Niyazov A, Lewis K, Rider A, Massey L, Arondekar B, Lux MP.
    • Adv Ther. 2022 Oct 28. doi: 10.1007/s12325-022-02302-2. Epub ahead of print.
    • Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center.
    • Zang B, Helms M, Besch L, Kalmbach N, Stegen S, Blohmer JU, Speiser D.
    • Arch Gynecol Obstet. 2022 Oct 28. doi: 10.1007/s00404-022-06819-3. Epub ahead of print.
    • Nonsurgical Options for Risk Reduction of Contralateral Breast Cancer in BRCA Mutation Carriers With Early-Stage Breast Cancer.
    • Evron E, Ben-David MA, Kaidar-Person O, Corn BW.
    • J Clin Oncol. 2022 Oct 28:JCO2201609. doi: 10.1200/JCO.22.01609. Epub ahead of print.
    • Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation Carriers.
    • Faermann R, Friedman E, Kaidar-Person O, Weidenfeld J, Brodsky M, Shalmon A, Neiman OH, Gotlieb M, Yagil Y, Samoocha D, Madorsky Feldman D, Sklair-Levy M.
    • Breast J. 2022 Oct 27. doi: 10.1155/2022/4317693. Online ahead of print.
    • Relationship between Baseline [18F]FDG PET/CT Semiquantitative Parameters and BRCA Mutational Status and Their Prognostic Role in Patients with Invasive Ductal Breast Carcinoma.
    • Dondi F, Albano D, Bellini P, Camoni L, Treglia G, Bertagna F.
    • Tomography. 2022 Oct 27;8(6):2662-2675. doi: 10.3390/tomography8060222.
    • Adolescent Triple-negative Breast Cancer with Germline Pathogenic Variants in both BRCA1 and TP53 Genes: A Case Report.
    • Chen D, Yuan M, Zhang Y, Zhang C, Wan D.
    • Front Oncol. 2022 Oct 26;12:970641. doi: 10.3389/fonc.2022.970641.
    • PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
    • Giardiello D, Hooning MJ, Hauptmann M, Keeman R, Heemskerk-Gerritsen BAM, Becher H, Blomqvist C, Bojesen SE, Bolla MK, Camp NJ, Czene K, Devilee P, Eccles DM, Fasching PA, Figueroa JD, Flyger H, García-Closas M, Haiman CA, Hamann U, Hopper JL, Jakubowska A, Leeuwen FE, Lindblom A, Lubinski J, Margolin S, Martinez ME, Nevanlinna H, Nevelsteen I, Pelders S, Pharoah PDP, Siesling S, Southey MC, van der Hout AH, van Hest LP, Chang-Claude J, Hall P, Easton DF, Steyerberg EW, Schmidt MK.
    • Breast Cancer Res. 2022 Oct 21;24(1):69. doi: 10.1186/s13058-022-01567-3.
    • Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
    • Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Shimon P; ESMO Guidelines Committee.
    • Ann Oncol. 2022 Oct 19:S0923-7534(22)04193-X. doi: 10.1016/j.annonc.2022.10.004. Epub ahead of print.
    • IN VIVO ASSIGNMENT OF METHYLMALONIC ACID IN BREAST TISSUE USING 2D MAGNETIC RESONANCE SPECTROSCOPY AND RELATIONSHIP WITH BREAST DENSITY, MENOPAUSAL STATUS AND CANCER RISK.
    • Santamaría G, Naude N, Bennett I, Vosburgh K, Ganau S, Bargalló X, Malycha P, Mountford C.
    • NMR Biomed. 2022 Oct 19:e4851. doi: 10.1002/nbm.4851. Epub ahead of print.
    • Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction.
    • Li S, MacInnis RJ, Lee A, Nguyen-Dumont T, Dorling L, Carvalho S, Dite GS, Shah M, Luccarini C, Wang Q, Milne RL, Jenkins MA, Giles GG, Dunning AM, Pharoah PDP, Southey MC, Easton DF, Hopper JL, Antoniou AC.
    • Am J Hum Genet. 2022 Oct 6;109(10):1777-1788. doi: 10.1016/j.ajhg.2022.09.006.

    Related:

    Research news: Breast Cancer Risk Contributors, Remaining Gaps Found With Familial Analyses. (GenomeWeb)

    • Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
    • Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, Engel C, Evans DG, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther SA, Gehrig A, Gesta P, Godwin AK, Goldgar DE, Greene MH, Hahnen E, Hake CR, Hamann U, Hansen TVO, Hauke J, Hentschel J, Herold N, Honisch E, Hulick PJ, Imyanitov EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai PL, Manoukian S, Mari V, Martens JWM, McGuffog L, Mebirouk N, Meindl A, Miller A, Montagna M, Moserle L, Mouret-Fourme E, Musgrave H, Nambot S, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nguyen-Dumont T, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Ott CE, Park SK, Parsons MT, Pedersen IS, Peixoto A, Perez-Segura P, Peterlongo P, Pocza T, Radice P, Ramser J, Rantala J, Rodriguez GC, Rønlund K, Rosenberg EH, Rossing M, Schmutzler RK, Shah PD, Sharif S, Sharma P, Side LE, Simard J, Singer CF, Snape K, Steinemann D, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Trainer AH, Tripathi V, Tung N, van Engelen K, van Rensburg EJ, Vega A, Viel A, Walker L, Weitzel JN, Wevers MR, Chenevix-Trench G, Spurdle AB, Antoniou AC, Walker LC.
    • Commun Biol. 2022 Oct 6;5(1):1061. doi: 10.1038/s42003-022-03978-6.
    • Comparison of Clinical, Pathological, and Prognostic Features in BRCA Mutant and Wild-Type Male Breast Cancer Patients.
    • Dogan I, Aydin E, Yazici H, Saip P.
    • Eur J Breast Health. 2022 Oct 1;18(4):323-328. doi: 10.4274/ejbh.galenos.2022.2022-5-2.
    • Incidence of Occult Breast Cancer in Carriers of BRCA1/2 or Other High-Penetrance Pathogenic Variants Undergoing Prophylactic Mastectomy: When is Sentinel Lymph Node Biopsy Indicated?
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    Related:

    Commentary:

    Background Parenchymal Enhancement at Breast MRI: More Is Not Better.

    • Prevalence and Factors Associated with BRCA1/2 Gene Mutation in Chinese Populations with Breast Cancer.
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    Related:

    Commentary:

    A Woman Needs to Know She Is a BRCA Carrier Before She Develops Breast Cancer.

    ASO Visual Abstract: Comparison of Outcomes Between BRCA Pathogenic Variant Carriers Undergoing Breast-Conserving Surgery and Those Treated With Mastectomy. (Annals of Surgical Oncology)

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    • Histological and Immunohistochemical Characteristics for Hereditary Breast Cancer Risk in a Cohort of Brazilian Women.
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    • The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.
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    • Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.
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    • TGFBR1*6A as a modifier of breast cancer risk and progression: advances and future prospects.
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    • Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers.
    • Alexander W.
    • Medscape Oncology. 2022 Jul 12.

    Related:

    Original research:

    Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

    • Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer.
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    • Environmental Contaminants Modulate Breast Cancer Development and Outcome in TP53 p.R337H Carriers and Noncarriers.
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    • The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
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    • Review
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    • Geburtshilfe Frauenheilkd. 2022 Jun 3;82(6):580-589. doi: 10.1055/a-1811-6106.
    • Are Mutation Carrier Patients Different from Non-Carrier Patients? Genetic, Pathology, and US Features of Patients with Breast Cancer.
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    • Genetic Aspects of Mammographic Density Measures Associated with Breast Cancer Risk.
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    • Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Women of Mongoloid Origin.
    • Gervas P, Molokov A, Babyshkina N, Kiselev A, Zarubin A, Yumov E, Pisareva L, Choynzonov E, Cherdyntseva N.
    • Asian Pac J Cancer Prev. 2022 Jun 1;23(6):2027-2033. doi: 10.31557/APJCP.2022.23.6.2027.
    • Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
    • Waks AG, Kim D, Jain E, Snow C, Kirkner GJ, Rosenberg SM, Oh C, Poorvu PD, Ruddy KJ, Tamimi RM, Peppercorn J, Schapira L, Borges VF, Come SE, Brachtel EF, Warner E, Collins LC, Partridge AH, Wagle N.
    • Clin Cancer Res. 2022 Jun 1;28(11):2339-2348. doi: 10.1158/1078-0432.CCR-21-2572.

    Related:

    Commentary:

    One Size Does Not Fit All: Breast Cancer in Young Women.

    • Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
    • Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y, Parsons MT, Mizukami K, Sekine Y, Hirata M, Kamatani Y, Endo M, Inai C, Takata S, Ito H, Kohno T, Matsuda K, Nakamura S, Sugano K, Yoshida T, Nakagawa H, Matsuo K, Murakami Y, Spurdle AB, Kubo M.
    • JAMA Oncol. 2022 Jun 1;8(6):871-878. doi: 10.1001/jamaoncol.2022.0476.

    Related:

    Research news: Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers. (Medscape Oncology)

    • The Effect of Age on Outcomes After Neoadjuvant Chemotherapy for Breast Cancer.
    • Verdial FC, Mamtani A, Pawloski KR, Sevilimedu V, D'Alfonso TM, Zhang H, Gemignani ML, Barrio AV, Morrow M, Tadros AB.
    • Ann Surg Oncol. 2022 Jun;29(6):3810-3819. doi: 10.1245/s10434-022-11367-w. Epub 2022 Mar 5.
    • Outcomes of non-metastatic triple negative breast cancers: Real-world data from a large Indian cohort.
    • Bajpai J, Kashyap L, Vallathol DH, Das A, Singh M, Pathak R, Rath S, Sekar A, Mohanta S, Reddy A, Joshi S, Nandhana R, Ravind R, Wadasadawala T, Nair N, Ghosh J, Parmar V, Gulia S, Desai S, Shet T, Thakur M, Patil A, Sarin R, Gupta S, Badwe R.
    • Breast. 2022 Jun;63:77-84. doi: 10.1016/j.breast.2022.03.011. Epub 2022 Mar 19.
    • Rate of breast biopsy referrals in female BRCA mutation carriers aged 50 years or more: a retrospective comparative study and matched analysis.
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    • Ethical, legal, and sociocultural challenges of genomic research in Jordan: a mixed methods study in patients with breast cancer with Jordanian-Palestinian heritage.
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    • Front Oncol. 2022 May 24;12:891426. doi: 10.3389/fonc.2022.891426.
    • Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations.
    • Yanus GA, Savonevich EL, Sokolenko AP, Romanko AA, Ni VI, Bakaeva EK, Gorustovich OA, Bizin IV, Imyanitov EN.
    • Fam Cancer. 2022 May 21. doi: 10.1007/s10689-022-00296-y. Epub ahead of print.
    • Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.
    • Koivuluoma S, Vorimo S, Mattila TM, Tervasmäki A, Kumpula T, Kuismin O, Winqvist R, Moilanen J, Mantere T, Pylkäs K.
    • Fam Cancer. 2022 May 20. doi: 10.1007/s10689-022-00295-z. Epub ahead of print.
    • Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.
    • Benito-Sánchez B, Barroso A, Fernández V, Mercadillo F, Núñez-Torres R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano JM, Urioste M, González-Neira A, Osorio A.
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    • Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
    • Dorling L, Carvalho S, Allen J, Parsons MT, Fortuno C, González-Neira A, Heijl SM, Adank MA, Ahearn TU, Andrulis IL, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bogdanova NV, Bojesen SE, Bolla MK, Bremer M, Briceno I, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G; NBCS Collaborators, Collée JM, Czene K, Dennis J, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Gabrielson M, Gago-Dominguez M, García-Closas M, Giles GG, Glendon G, Guénel P, Gündert M, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Harkness EF, Hartman M, Hogervorst FBL, Hollestelle A, Hoppe R, Howell A; kConFab Investigators; SGBCC Investigators, Jakubowska A, Jung A, Khusnutdinova E, Kim SW, Ko YD, Kristensen VN, Lakeman IMM, Li J, Lindblom A, Loizidou MA, Lophatananon A, Lubinski J, Luccarini C, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Mohd Taib NA, Muir K, Nevanlinna H, Newman WG, Oosterwijk JC, Park SK, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Surowy H, Suvanto M, Tomlinson I, Torres D, Truong T, van Asperen CJ, Waltes R, Wang Q, Yang XR, Pharoah PDP, Schmidt MK, Benitez J, Vroling B, Dunning AM, Teo SH, Kvist A, de la Hoya M, Devilee P, Spurdle AB, Vreeswijk MPG, Easton DF.
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    • Pregnancy Associated Breast Cancer Among Israeli BRCA1/BRCA2 Carriers in a High-Risk Clinic.
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    • Molecular phenotypes and clinical characterization of familial hereditary breast cancer among half and full sisters.
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    • CDH1 germline mutations in families with hereditary lobular breast cancer.
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    • Review
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    • Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in Japan.
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    • Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.
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    • Editorial: Familial Cancer in China: From Detection to Screening and Management.
    • Chen T, Yuan Y.
    • Front Oncol. 2022 Apr 29;12:916814. doi: 10.3389/fonc.2022.916814.
    • Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland.
    • Pallonen TA, Lempiäinen SMM, Joutsiniemi TK, Aaltonen RI, Pohjola PE, Kankuri-Tammilehto MK.
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    • Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
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    • NPJ Breast Cancer. 2022 Apr 21;8(1):52. doi: 10.1038/s41523-022-00417-x.
    • Common Variant in ALDH2 Modifies the Risk of Breast Cancer Among Carriers of the p.K3326* Variant in BRCA2.
    • Kluzniak W, Szymiczek A, Rodrigue A, Wokolorczyk D, Rusak B, Stempa K, Huzarski T, Gronwald J, Lubinski J, Zamani N, Zhang S, Masson JY, Narod SA; Polish Hereditary Breast Cancer Consortium, Cybulski C, Akbari MR.
    • JCO Precis Oncol. 2022 Apr [20];6:e2100450. doi: 10.1200/PO.21.00450.
    • Male Breast Cancer: From Molecular Genetics to Clinical Management.
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    • Overall survival analysis of > 65-year-old patients with breast cancer based on their molecular, clinicopathological and laboratory factors.
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    • A South African Indian population group dataset for breast cancer and BRCA1/2 variants.
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    • Data Brief. 2022 Apr 14;42:108180. doi: 10.1016/j.dib.2022.108180.

    Related:

    Original research:

    Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.

    • Germline Mutational Landscape in Chinese Patients With Advanced Breast Cancer.
    • Zhang J, Wang N, Zheng T, Lu T, Zhang R, Ran R, Li K, Huang Y, Xie F, Zhang Y, Jia S, Yu J, Li H.
    • Front Oncol. 2022 Apr 13;12:745796. doi: 10.3389/fonc.2022.745796.
    • The Impact of BRCA Status on Therapy Choices.
    • Schapira L, Tung N.
    • Medscape. 2022 Apr 12.
    • Phylogenetic Analysis IDs Subset of De Novo Tumors Unrelated to Primary DCIS.
    • Ray T.
    • GenomeWeb. Disease Areas. Cancer. 2022 Apr 11.
    • Some Recurrent DCIS Breast Tumors are Actually New Lesions.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Apr 11.
    • Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience.
    • Van der Merwe NC, Combrink HM, Ntaita KS, Oosthuizen J.
    • Front Genet. 2022 Apr 8;13:834265. doi: 10.3389/fgene.2022.834265.
    • Modification of BRCA1-associated breast cancer risk by HMMR overexpression.
    • Mateo F, He Z, Mei L, de Garibay GR, Herranz C, García N, Lorentzian A, Baiges A, Blommaert E, Gómez A, Mirallas O, Garrido-Utrilla A, Palomero L, Espín R, Extremera AI, Soler-Monsó MT, Petit A, Li R, Brunet J, Chen K, Tan S, Eaves CJ, McCloskey C, Hakem R, Khokha R, Lange PF, Lázaro C, Maxwell CA, Pujana MA.
    • Nat Commun. 2022 Apr 7;13(1):1895. doi: 10.1038/s41467-022-29335-z.
    • Incidence and impact of brain metastasis in patients with hereditary BRCA1 or BRCA2 mutated invasive breast cancer.
    • Garber HR, Raghavendra AS, Lehner M, Qiao W, Gutierrez-Barrera AM, Tripathy D, Arun B, Ibrahim NK.
    • NPJ Breast Cancer. 2022 Apr 7;8(1):46. doi: 10.1038/s41523-022-00407-z.
    • Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.
    • Stella S, Vitale SR, Martorana F, Massimino M, Pavone G, Lanzafame K, Bianca S, Barone C, Gorgone C, Fichera M, Manzella L.
    • Cancer Manag Res. 2022 Apr 5;14:1341-1352. doi: 10.2147/CMAR.S348529.
    • Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients.
    • Vidra R, Ciuleanu TE, Nemes A, Pascu O, Heroiu AM, Antone N, Vidrean AI, Oprean CM, Pop LA, Berindan-Neagoe I, Eniu R, Eniu A.
    • Int J Environ Res Public Health. 2022 Apr 4;19(7):4314. doi: 10.3390/ijerph19074314.
    • Cancer Causative Mutations Occurring in Early Embryogenesis.
    • Pareja F, Ptashkin RN, Brown DN, Derakhshan F, Selenica P, da Silva EM, Gazzo AM, Da Cruz Paula A, Breen K, Shen R, Marra A, Zehir A, Benayed R, Berger MF, Ceyhan-Birsoy O, Jairam S, Sheehan M, Patel U, Kemel Y, Casanova-Murphy J, Schwartz CJ, Vahdatinia M, Comen E, Borsu L, Pei X, Riaz N, Abramson DH, Weigelt B, Walsh MF, Hadjantonakis AK, Ladanyi M, Offit K, Stadler ZK, Robson ME, Reis-Filho JS, Mandelker D.
    • Cancer Discov. 2022 Apr 1;12(4):949-957. doi: 10.1158/2159-8290.CD-21-1110.

    Related:

    Commentary:

    Patchwork Cancer Predisposition.

    • Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis.
    • Lowry KP, Geuzinge HA, Stout NK, Alagoz O, Hampton J, Kerlikowske K, de Koning HJ, Miglioretti DL, van Ravesteyn NT, Schechter C, Sprague BL, Tosteson ANA, Trentham-Dietz A, Weaver D, Yaffe MJ, Yeh JM, Couch FJ, Hu C, Kraft P, Polley EC, Mandelblatt JS, Kurian AW, Robson ME; Breast Working Group of the Cancer Intervention and Surveillance Modeling Network (CISNET), in collaboration with the Breast Cancer Surveillance Consortium (BCSC), and the Cancer Risk Estimates Related to Susceptibility (CARRIERS) Consortium.
    • JAMA Oncol. 2022 Apr 1;8(4):587-596. doi: 10.1001/jamaoncol.2021.6204.

    Related:

    Research news: Breast Cancer Screening with MRI Recommended for Women with Pathogenic Variants. (Inside Precision Medicine)

    Research news: MRI Could Reduce Breast Cancer Deaths in Women at High Risk. (Medscape)

    • Impact of BRCA mutation on the survival and risk of contralateral breast cancer in Asian breast cancer patients.
    • Lin PH, Chen SC, Tseng LM, Chang KJ, Huang AC, Cheng KC, Yang K, Wu HC, Chao TY, Chang YC, Lin PC, Kuo WH, Kuo WL, Lin CH, Chen HM, Yeh DC, Liu LC, Liu CY, Wang MY, Lo C, Lu YS, Huang CS.
    • Breast Cancer Res Treat. 2022 Apr;192(3):629-637. doi: 10.1007/s10549-021-06446-7. Epub 2022 Feb 3.
    • Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic.
    • Saghatchian M, Abehsera M, Yamgnane A, Geyl C, Gauthier E, Hélin V, Bazire M, Villoing-Gaudé L, Reyes C, Gentien D, Golmard L, Stoppa-Lyonnet D.
    • Breast Cancer Res Treat. 2022 Apr;192(2):375-383. doi: 10.1007/s10549-021-06445-8. Epub 2022 Jan 7.
    • Association between germline pathogenic variants and breast cancer risk in Japanese women: the HERPACC study.
    • Kasugai Y, Kohmoto T, Taniyama Y, Koyanagi YN, Usui Y, Iwase M, Oze I, Yamaguchi R, Ito H, Imoto I, Matsuo K.
    • Cancer Sci. 2022 Apr;113(4):1451-1462. doi: 10.1111/cas.15312. Epub 2022 Mar 7.
    • Effective Surveillance of High-Risk Women.
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    • Clin Breast Cancer. 2022 Apr;22(3):e263-e269. doi: 10.1016/j.clbc.2021.07.014. Epub 2021 Jul 27.
    • Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance.
    • Castillo-Guardiola V, Rosado-Jiménez L, Sarabia-Meseguer MD, Marín-Vera M, Macías-Cerrolaza JA, García-Hernández R, Zafra-Poves M, Sánchez-Henarejos P, Moreno-Locubiche MÁ, Cuevas-Tortosa E, Arnaldos-Carrillo M, Ayala de la Peña F, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F.
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    • Extended gene panel testing in lobular breast cancer.
    • van Veen EM, Evans DG, Harkness EF, Byers HJ, Ellingford JM, Woodward ER, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
    • Fam Cancer. 2022 Apr;21(2):129-136. doi: 10.1007/s10689-021-00241-5. Epub 2021 Mar 25.
    • First international workshop of the ATM and cancer risk group (4-5 December 2019).
    • Lesueur F, Easton DF, Renault AL, Tavtigian SV, Bernstein JL, Kote-Jarai Z, Eeles RA, Plaseska-Karanfia D, Feliubadaló L; Spanish ATM working group, Arun B, Herold N, Versmold B, Schmutzler RK; GC-HBOC, Nguyen-Dumont T, Southey MC, Dorling L, Dunning AM, Ghiorzo P, Dalmasso BS, Cavaciuti E, Le Gal D, Roberts NJ, Dominguez-Valentin M, Rookus M, Taylor AMR, Goldstein AM, Goldgar DE; CARRIERS and Ambry Groups, Stoppa-Lyonnet D, Andrieu N.
    • Fam Cancer. 2022 Apr;21(2):211-227. doi: 10.1007/s10689-021-00248-y. Epub 2021 Jun 14.
    • Conference report
    • Analysis of pathogenic variants in BRCA1 and BRCA2 genes using next-generation sequencing in women with triple negative breast cancer from South India.
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    • Mol Biol Rep. 2022 Apr;49(4):3025-3032. doi: 10.1007/s11033-022-07129-2. Epub 2022 Jan 12.
    • Habitat Analysis of Breast Cancer-Enhanced MRI Reflects BRCA1 Mutation Determined by Immunohistochemistry.
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    • BRCA1/2 Serves as a Biomarker for Poor Prognosis in Breast Carcinoma.
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    • Assessing the Variations in Breast/Ovarian Cancer Risk for Chinese BRCA1/2 Carriers.
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    • The Breast Cancer Screening and Timing of Breast MRI-Experience in a Genetic High-Risk Screening Clinic in a Comprehensive Cancer Center.
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    • Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers.
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    • Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics.
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    • BRCA1 Mutation: An Insidious Enemy with Multiple Facets….
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    Related:

    Press: Breast Tumor Features Reflecting Germline Variants May Improve Risk Prediction Models. (Precision Oncology News)

    Research news: Variants of Nine Breast Cancer Genes Associated With Severe Disease. (Medscape)

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    Related:

    Original research:

    Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.

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    Related:

    Original research:

    Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis.

    • Earlier decisions on breast and ovarian surgery reduce cancer in women at high risk.
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    Original research:

    Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers.

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    • BRCA1/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome.
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    Related:

    Commentary:

    Invited Commentary: The Challenges of Early-Onset Breast Cancer.

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    Related:

    Commentary:

    Coiled-Coil Domain: Uncoiling Tumor Suppression by BRCA1.

    • Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.
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    Related:

    Commentary:

    Editorial: Familial Cancer in China: From Detection to Screening and Management.

    • Genetic heterogeneity during breast cancer progression in young patients.
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    • Breast. 2021 Oct 6;60:177-184. doi: 10.1016/j.breast.2021.09.008. Epub ahead of print.
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    • Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.
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    • Commentary: Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.
    • Venetis K, Fusco N, Sajjadi E.
    • Front Oncol. 2021 Sep 29;11:735476. doi: 10.3389/fonc.2021.735476.

    Related:

    Original research:

    Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.

    • Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer.
    • Peterlongo P, Figlioli G, Deans AJ, Couch FJ.
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    • Genetic Technologies, WashU Team up to Study Breast Cancer Risk in Woman of African Descent.
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    • Precision Oncology News. Diagnostics. 2021 Sep 28.
    • Contralateral risk-reducing local therapy in breast cancer patients with BRCA1/2 mutations: systemic review and meta-analysis.
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    • Cancer Cell Int. 2021 Sep 25;21(1):512. doi: 10.1186/s12935-021-02194-2.
    • The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
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    • Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483.
    • Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.
    • Patruno M, De Summa S, Resta N, Caputo M, Costanzo S, Digennaro M, Pilato B, Bagnulo R, Pantaleo A, Simone C, Natalicchio MI, De Matteis E, Tarantino P, Tommasi S, Paradiso A.
    • Cancers (Basel). 2021 Sep 21;13(18):4714. doi: 10.3390/cancers13184714.
    • Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.
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    • J Genomics. 2021 Sep 18;9:43-54. doi: 10.7150/jgen.61713.
    • Risks of subsequent primary cancers among breast cancer survivors according to hormone receptor status.
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    • Cancer. 2021 Sep 15;127(18):3310-3324. doi: 10.1002/cncr.33602. Epub 2021 May 18.
    • Should Age-Dependent Absolute Risk Thresholds Be Used for Risk Stratification in Risk-Stratified Breast Cancer Screening?
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    • Cancer Spectrum, Family History of Cancer and Overall Survival in Men with Germline BRCA1 or BRCA2 Mutations.
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    • Retrospective Analysis of Clinicopathological Features and Familial Cancer History of Synchronous Bilateral Breast Cancer.
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    • Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women.
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    • Cancers (Basel). 2021 Sep 11;13(18):4568. doi: 10.3390/cancers13184568.
    • The prevalence of ataxia telangiectasia mutated (ATM) variants in patients with breast cancer patients: a systematic review and meta-analysis.
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    • Cancer Cell Int. 2021 Sep 8;21(1):474. doi: 10.1186/s12935-021-02172-8.
    • Transcriptome of Male Breast Cancer Matched with Germline Profiling Reveals Novel Molecular Subtypes with Possible Clinical Relevance.
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    • Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.
    • Tung N, Desai N.
    • J Clin Oncol. 2021 Sep 7:JCO2101761. doi: 10.1200/JCO.21.01761. Epub ahead of print.

    Related:

    Original research:

    Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.

    Original research:

    Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

    • Biological Role and Clinical Implications of microRNAs in BRCA Mutation Carriers.
    • Tommasi C, Pellegrino B, Boggiani D, Sikokis A, Michiara M, Uliana V, Bortesi B, Bonatti F, Mozzoni P, Pinelli S, Squadrilli A, Viani MV, Cassi D, Maglietta G, Meleti M, Musolino A.
    • Front Oncol. 2021 Sep 6;11:700853. doi: 10.3389/fonc.2021.700853.
    • Evaluating Polygenic Risk Scores for Breast Cancer in Women of African Ancestry.
    • Du Z, Gao G, Adedokun B, Ahearn T, Lunetta KL, Zirpoli G, Troester MA, Ruiz-Narváez EA, Haddad SA, PalChoudhury P, Figueroa J, John EM, Bernstein L, Zheng W, Hu JJ, Ziegler RG, Nyante S, Bandera EV, Ingles SA, Mancuso N, Press MF, Deming SL, Rodriguez-Gil JL, Yao S, Ogundiran TO, Ojengbe O, Bolla MK, Dennis J, Dunning AM, Easton DF, Michailidou K, Pharoah PDP, Sandler DP, Taylor JA, Wang Q, Weinberg CR, Kitahara CM, Blot W, Nathanson KL, Hennis A, Nemesure B, Ambs S, Sucheston-Campbell LE, Bensen JT, Chanock SJ, Olshan AF, Ambrosone CB, Olopade OI, Yarney J, Awuah B, Wiafe-Addai B, Conti DV; GBHS Study Team, Palmer JR, Garcia-Closas M, Huo D, Haiman CA.
    • J Natl Cancer Inst. 2021 Sep 4;113(9):1168-1176. doi: 10.1093/jnci/djab050.

    Related:

    Commentary:

    Do Breast Cancer Risk Scores Work for You?

    • A polygenic-score-based approach for identification of gene-drug interactions stratifying breast cancer risk.
    • Marderstein AR, Kulm S, Peng C, Tamimi R, Clark AG, Elemento O.
    • Am J Hum Genet. 2021 Sep 2;108(9):1752-1764. doi: 10.1016/j.ajhg.2021.07.008. Epub 2021 Aug 6.

    Related:

    News: Breast Cancer Genetic Risk Modified by Corticosteroid Use. (GenomeWeb)

    • "High-Risk Breast Cancer Screening in BRCA1/2 Carriers Leads to Early Detection and Improved Survival After a Breast Cancer Diagnosis".
    • Shraga S, Grinshpun A, Zick A, Kadouri L, Cohen Y, Maimon O, Adler-Levy Y, Zeltzer G, Granit A, Maly B, Carmon E, Meiner V, Sella T, Hamburger T, Peretz T.
    • Front Oncol. 2021 Sep 2;11:683656. doi: 10.3389/fonc.2021.683656.
    • COVID-19 Vaccination Induced Lymphadenopathy in a Specialized Breast Imaging Clinic in Israel: Analysis of 163 cases.
    • Faermann R, Nissan N, Halshtok-Neiman O, Shalmon A, Gotlieb M, Yagil Y, Samoocha D, Friedman E, Sklair-Levy M.
    • Acad Radiol. 2021 Sep;28(9):1191-1197. doi: 10.1016/j.acra.2021.06.003. Epub 2021 Jun 10.

    Related:

    Commentary:

    Managing the Risk of Delayed Breast Cancer Screening Versus COVID-19 Vaccination Associated Axillary Lymphadenopathy.

    • Preliminary results of targeted sequencing of BRCA1 and BRCA2 in a cohort of breast cancer families: New insight into pathogenic variants in patients and at-risk relatives.
    • Saied MH, Elkaffash D, Fadl R, Haleem RA, Refeat A, Ibrahim I, Tahoun M, Elkayal A, Tayae E.
    • Mol Med Rep. 2021 Sep;24(3):678. doi: 10.3892/mmr.2021.12317. Epub 2021 Jul 23.
    • Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study.
    • Koh SJ, Ohsumi S, Takahashi M, Fukuma E, Jung KH, Ishida T, Dai MS, Chang CH, Dalvi T, Walker G, Bennett J, O'Shaughnessy J, Balmaña J.
    • Breast Cancer. 2021 Aug 31. doi: 10.1007/s12282-021-01283-4. Epub ahead of print.
    • The importance of Ethnicity: are breast cancer Polygenic Risk Scores ready for women who are not of white European origin?
    • Evans DG, van Veen EM, Byers H, Roberts E, Howell A, Howell SJ, Harkness EF, Brentnall A, Cuzick J, Newman WG.
    • Int J Cancer. 2021 Aug 30. doi: 10.1002/ijc.33782. Epub ahead of print.
    • Male breast cancer: an update.
    • Fox S, Speirs V, Shaaban AM.
    • Virchows Arch. 2021 Aug 30. doi: 10.1007/s00428-021-03190-7. Epub ahead of print.
    • Review
    • A rare case of breast cancer in a transgender woman.
    • Sieberg R, Soriano K, Zuurbier R.
    • Radiol Case Rep. 2021 Aug 26;16(11):3285-3288. doi: 10.1016/j.radcr.2021.07.052.
    • Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
    • Ruiz de Garibay G, Fernandez-Garcia I, Mazoyer S, Leme de Calais F, Ameri P, Martinez-Ruiz SH, Damiola F, Barjhoux L, Thomassen M, Andersen LVB, Herranz C, Mateo F, Palomero L, Espin R, Gómez A, García N, Jimenez D, Bonifaci N, Extremera AI, Castaño J, Raya A, Eyras E, Puente XS, Brunet J, Lázaro C, Gemo, Cimba, Radice P, Barnes DR, Antoniou AC, Spurdle AB, de la Hoya M, Baralle D, Barcellos-Hoff MH, Pujana MA.
    • Hum Mutat. 2021 Aug 22. doi: 10.1002/humu.24276. Epub ahead of print.
    • The value of clinical breast examination in a breast cancer surveillance program for women with germline BRCA1 or BRCA2 mutations.
    • Hettipathirana T, Macdonald C, Xie J, Moodie K, Michael C, Phillips KA.
    • Med J Aust. 2021 Aug 21. doi: 10.5694/mja2.51226. Epub ahead of print.
    • Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients.
    • Kwong A, Shin VY, Ho CYS, Khalid A, Au CH, Chan KKL, Ngan HYS, Chan TL, Ma ESK.
    • Cancers (Basel). 2021 Aug 20;13(16):4195. doi: 10.3390/cancers13164195.
    • Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers.
    • Hamdi Y, Mighri N, Boujemaa M, Mejri N, Ben Nasr S, Ben Rekaya M, Messaoud O, Bouaziz H, Berrazega Y, Rachdi H, Jaidane O, Daoud N, Zribi A, Ayari J, El Benna H, Labidi S, Ben Hassouna J, Haddaoui A, Rahal K, Benna F, Mrad R, Ben Ahmed S, Boussen H, Boubaker S, Abdelhak S.
    • Front Oncol. 2021 Aug 20;11:674965. doi: 10.3389/fonc.2021.674965.
    • Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
    • Herzog JS, Chavarri-Guerra Y, Castillo D, Abugattas J, Villarreal-Garza C, Sand S, Clague-Dehart J, Alvarez-Gómez RM, Wegman-Ostrosky T, Mohar A, Mora P, Del Toro-Valero A, Daneri-Navarro A, Rodriguez Y, Cruz-Correa M, Ashton-Prolla P, Alemar B, Mejia R, Gallardo L, Shaw R, Yang K, Cervantes A, Tsang K, Nehoray B, Barrera Saldana H, Neuhausen S, Weitzel JN.
    • NPJ Breast Cancer. 2021 Aug 19;7(1):107. doi: 10.1038/s41523-021-00317-6.
    • Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability.
    • Evans DG, van Veen EM, Woodward ER, Harkness EF, Ellingford JM, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
    • Cancers (Basel). 2021 Aug 18;13(16):4154. doi: 10.3390/cancers13164154.
    • Breast imaging screening in a BRCA1-mutated lactating patient: A potential pitfall mimicking malignancy.
    • Casinelli A, Malavolta G, Caruso G, Capri O, Ballesio L.
    • Radiol Case Rep. 2021 Aug 14;16(10):3104-3108. doi: 10.1016/j.radcr.2021.07.019.
    • ASO Author Reflections: Prophylactic Nipple-Sparing Mastectomy as an Effective Risk-Reducing Strategy for BRCA Mutation Carriers.
    • Garstka M, Smith BL.
    • Ann Surg Oncol. 2021 Aug 13. doi: 10.1245/s10434-021-10588-9. Epub ahead of print.
    • Commentary
    • Study: Frequency of inherited mutations linked to breast cancer are similar in Black and white women.
    • [No author given]
    • FORCE. XRAY. 2021 Aug 13.

    Related:

    Original research:

    Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women With Breast Cancer in the United States.

    • Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology.
    • Hamdi Y, Boujemaa M, Mighri N, Mejri N, Jaidane O, Ben Nasr S, Bouaziz H, Hassouna JB, Zribi A, Berrazaga Y, Rachdi H, Daoud N, El Benna H, Labidi S, Haddaoui A, Rahal K, Benna F, Boussen H, Abdelhak S, Boubaker S.
    • Front Genet. 2021 Aug 12;12:674990. doi: 10.3389/fgene.2021.674990.
    • The Fanconi anemia pathway and Breast Cancer: A comprehensive review of clinical data.
    • Gianni P, Matenoglou E, Geropoulos G, Agrawal N, Adnani H, Zafeiropoulos S, Miyara SJ, Guevara S, Mumford JM, Molmenti EP, Giannis D.
    • Clin Breast Cancer. 2021 Aug 10:S1526-8209(21)00238-X. doi: 10.1016/j.clbc.2021.08.001. Epub ahead of print.
    • Review
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    • Breast Cancer Res. 2021 Aug 3;23(1):79. doi: 10.1186/s13058-021-01456-1.
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    Related:

    Commentary:

    Polygenic Risk Scores for Breast Cancer-Can They Deliver on the Promise of Precision Medicine?

    Press: Polygenic Breast Cancer Risk Scores Strive to Overcome Racial Bias. (Medscape Medical News)

    • Genetic testing results in Slovenian male breast cancer cohort indicate the BRCA2 7806-2A > G founder variant could be associated with higher male breast cancer risk.
    • Strojnik K, Krajc M, Dragos VS, Stegel V, Novakovic S, Blatnik A.
    • Breast Cancer Res Treat. 2021 Aug;188(3):811-820. doi: 10.1007/s10549-021-06224-5. Epub 2021 Apr 23.
    • Optimization of prediction methods for risk assessment of pathogenic germline variants in the Japanese population.
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    • Clinicopathological Features of BRCA1/2 Mutation-Positive Breast Cancer.
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    • Oncology. 2021 [Aug];99(8):499-506. doi: 10.1159/000515790. Epub 2021 Jun 7.
    • Hereditary Breast and Ovarian Cancer Screening Syndrome Profile in Women Diagnosed with Breast Cancer from Paraná State Southwest.
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    • The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.
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    Related:

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    Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

    Original research:

    A Population-Based Study of Genes Previously Implicated in Breast Cancer.

    • A Personal Breast Cancer Risk Stratification Model Using Common Variants and Environmental Risk Factors in Japanese Females.
    • Oze I, Ito H, Kasugai Y, Yamaji T, Kijima Y, Ugai T, Kasuga Y, Ouellette TK, Taniyama Y, Koyanagi YN, Imoto I, Tsugane S, Koriyama C, Iwasaki M, Matsuo K.
    • Cancers (Basel). 2021 Jul 28;13(15):3796. doi: 10.3390/cancers13153796.
    • Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
    • Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady A, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Lotte Christensen L, Cini G, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Chun Ding Y, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Gareth Evans D, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J; KConFab Investigators; HEBON Investigators, Izatt L, Izquierdo A, James PA, Janavicius R, Birk Jensen U, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Sokilde Pedersen I, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Angel Pujana M, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, María Sánchez de Abajo A, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L; Consortium of Investigators of Modifiers of BRCA1 and BRCA2.
    • J Natl Cancer Inst. 2021 Jul 28:djab147. doi: 10.1093/jnci/djab147. Epub ahead of print.
    • Breast cancer incidence and early diagnosis in a family history risk and prevention clinic: 33-year experience in 14,311 women.
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    • Breast Cancer Res Treat. 2021 Jul 26. doi: 10.1007/s10549-021-06333-1. Epub ahead of print.
    • Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.
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    • J Clin Oncol. 2021 Jul 22:JCO2100531. doi: 10.1200/JCO.21.00531. Epub ahead of print.

    Related:

    Commentary, Research report:

    Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.

    Press: Older Women with Breast Cancer May Benefit from Genetic Testing (Clinical OMICs)

    • TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
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    • Prediction of BRCA Gene Mutation in Breast Cancer Based on Deep Learning and Histopathology Images.
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    • Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years.
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    • Genomic Risk Prediction for Breast Cancer in Older Women.
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    • Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
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    • Mutational profile of hereditary breast and ovarian cancer - Establishing genetic testing guidelines in a developing country.
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    • A competing risks model with binary time varying covariates for estimation of breast cancer risks in BRCA1 families.
    • Briollais L.
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    • Performance of the IBIS/Tyrer-Cuzick model of breast cancer risk by race and ethnicity in the Women's Health Initiative.
    • Kurian AW, Hughes E, Simmons T, Bernhisel R, Probst B, Meek S, Caswell-Jin JL, John EM, Lanchbury JS, Slavin TP, Wagner S, Gutin A, Rohan TE, Shadyab AH, Manson JE, Lane D, Chlebowski RT, Stefanick ML.
    • Cancer. 2021 Jul 6. doi: 10.1002/cncr.33767. Epub ahead of print.
    • A novel germline BRCA1 mutation identified in a family with hereditary breast and ovarian cancer syndrome.
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    • Clin Med Insights Oncol. 2021 Jul 2;15:11795549211028569. doi: 10.1177/11795549211028569.
    • Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
    • Ren M, Orozco A, Shao K, Albanez A, Ortiz J, Cao B, Wang L, Barreda L, Alvarez CS, Garland L, Wu D, Chung CC, Wang J, Frone M, Ralon S, Argueta V, Orozco R, Gharzouzi E, Dean M.
    • Breast Cancer Res Treat. 2021 Jul 1. doi: 10.1007/s10549-021-06305-5. Epub ahead of print.
    • Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women With Breast Cancer in the United States.
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    • JAMA Oncol. 2021 Jul 1;7(7):1045-1050. doi: 10.1001/jamaoncol.2021.1492.

    Related:

    Research news: Study: Frequency of inherited mutations linked to breast cancer are similar in Black and white women. (FORCE. XRAY)

    Research news: UPenn Study Finds Similar Rates of Risk Mutations Among Black, White Breast Cancer Patients. (Precision Oncology News)

    • Bilateral Salpingo-Oophorectomy to Reduce Breast Cancer Risk in Women With Germline BRCA1 or BRCA2 Pathogenic Variants-Caution Needed.
    • Conduit C, Milne RL, Phillips KA.
    • JAMA Oncol. 2021 Jul 1. doi: 10.1001/jamaoncol.2021.2037. Epub ahead of print.
    • Letter, Comment

    Related:

    Letter, Reply:

    Bilateral Salpingo-Oophorectomy to Reduce Breast Cancer Risk in Women With Germline BRCA1 or BRCA2 Pathogenic Variants-Caution Needed-Reply.

    Related:

    Original research:

    Association of Risk-Reducing Salpingo-Oophorectomy With Breast Cancer Risk in Women With BRCA1 and BRCA2 Pathogenic Variants.

    • Molecular Features and Functional Implications of Germline Variants in Triple-Negative Breast Cancer.
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    • N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

    Related:

    •• Editorial:

    Which Genes for Hereditary Breast Cancer?

    •• Commentary:

    The ten genes for breast (and ovarian) cancer susceptibility.

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    The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.

    •• Press: Breast Cancer Risk Gene Associations Refined in Large-Scale Studies. (Precision Oncology News)

    •• Press: New Breast Cancer Mutation Findings Could Change Risk Management. (Medscape)

    • A Population-Based Study of Genes Previously Implicated in Breast Cancer.
    • Hu C, Hart SN, Gnanaolivu R, Huang H, Lee KY, Na J, Gao C, Lilyquist J, Yadav S, Boddicker NJ, Samara R, Klebba J, Ambrosone CB, Anton-Culver H, Auer P, Bandera EV, Bernstein L, Bertrand KA, Burnside ES, Carter BD, Eliassen H, Gapstur SM, Gaudet M, Haiman C, Hodge JM, Hunter DJ, Jacobs EJ, John EM, Kooperberg C, Kurian AW, Le Marchand L, Lindstroem S, Lindstrom T, Ma H, Neuhausen S, Newcomb PA, O'Brien KM, Olson JE, Ong IM, Pal T, Palmer JR, Patel AV, Reid S, Rosenberg L, Sandler DP, Scott C, Tamimi R, Taylor JA, Trentham-Dietz A, Vachon CM, Weinberg C, Yao S, Ziogas A, Weitzel JN, Goldgar DE, Domchek SM, Nathanson KL, Kraft P, Polley EC, Couch FJ.
    • N Engl J Med. 2021 Feb 4;384(5):440-451. doi: 10.1056/NEJMoa2005936. Epub 2021 Jan 20.

    Related:

    •• Editorial:

    Which Genes for Hereditary Breast Cancer?

    •• Commentary:

    The ten genes for breast (and ovarian) cancer susceptibility.

    •• Commentary:

    The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.

    •• Press: Breast Cancer Risk Gene Associations Refined in Large-Scale Studies. (Precision Oncology News)

    •• Press: New Breast Cancer Mutation Findings Could Change Risk Management. (Medscape)

    • Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.
    • Lattimore V, Parsons MT, Spurdle AB, Pearson J, Lehnert K, Sullivan J, Lintott C, Bawden S, Morrin H, Robinson B, Walker L.
    • Breast Cancer Res Treat. 2021 Feb;185(3):583-590. doi: 10.1007/s10549-020-05986-8. Epub 2020 Oct 28.
    • Effects of Germline Pathogenic Variants, Cancer Subtypes, Tumor-related Characteristics, and Pregnancy-associated Diagnosis on Outcomes.
    • Tsai ML, Knaack M, Martone P, Krueger J, Baldinger SR, Lillemoe TJ, Susnik B, Grimm E, Olet S, Rueth N, Swenson KK.
    • Clin Breast Cancer. 2021 Feb;21(1):47-56. doi: 10.1016/j.clbc.2020.07.003. Epub 2020 Jul 9.
    • Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
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    • Cancer Prev Res (Phila). 2021 Jan 28:canprevres.0448.2020. doi: 10.1158/1940-6207.CAPR-20-0448. Epub ahead of print.
    • Study: Breastfeeding may lower risk of ovarian cancer in women with BRCA mutations.
    • [No author given]
    • FORCE. XRAY. 2021 Jan 28.

    Related:

    Original research:

    Hereditary Ovarian Cancer Clinical Study Group. Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation.

    Blog post: Did Breastfeeding my Daughter Reduce my Ovarian Cancer Risk? (FORCE. Blog.)

    • Transcriptome Patterns of BRCA1- and BRCA2- Mutated Breast and Ovarian Cancers.
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    • Int J Mol Sci. 2021 Jan 28;22(3):1266. doi: 10.3390/ijms22031266.
    • K3326X and Other C-Terminal BRCA2 Variants Implicated in Hereditary Cancer Syndromes: A Review.
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    • Prophylactic Surgery in the BRCA+ Patient: Do Women Develop Breast Cancer While Waiting?
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    • Curr Oncol. 2021 Jan 25;28(1):702-715. doi: 10.3390/curroncol28010069.
    • BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
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    • Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.
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    • Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort.
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    • A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient.
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    • Insights Into the Impacts of BRCA Mutations on Clinicopathology and Management of Early-Onset Triple-Negative Breast Cancer.
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    • Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).
    • Tokunaga H, Iida K, Hozawa A, Ogishima S, Watanabe Y, Shigeta S, Shimada M, Yamaguchi-Kabata Y, Tadaka S, Katsuoka F, Ito S, Kumada K, Hamanaka Y, Fuse N, Kinoshita K, Yamamoto M, Yaegashi N, Yasuda J.
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    • Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers.
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    Related:

    Letter, Comment:

    Reply to S. A. Narod et al.

    Original research:

    Pregnancy After Breast Cancer in Patients With Germline BRCA Mutations.

    • BRCA1/2 pathogenic variants in triple-negative versus luminal-like breast cancers: genotype-phenotype correlation in a cohort of 531 patients.
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    • Breast Cancer Res. 2020 Dec 7;22(1):138. doi: 10.1186/s13058-020-01375-7. PMID: 33287857.
    • Five Italian Families with Two Mutations in BRCA Genes.
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    • Breast cancer associated pathogenic variants among women 61 years and older with triple negative breast cancer.
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    • J Geriatr Oncol. 2020 Dec 1:S1879-4068(20)30500-2. doi: 10.1016/j.jgo.2020.11.008. Epub ahead of print.
    • ERCC3, a new ovarian cancer susceptibility gene?
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    • Eur J Cancer. 2020 Dec;141:1-8. doi: 10.1016/j.ejca.2020.09.023. Epub 2020 Oct 23.

    Related:

    Letter, Comment:

    Re: ERCC3, a new ovarian cancer susceptibility gene?

    Letter, Reply:

    Response to letter entitled: Re: ERCC3 a new ovarian cancer susceptibility gene?

    • [A Case of Ipsilateral Breast Tumor Recurrence(IBTR)after Breast-Conserving Surgery Which Successfully Resected after Chemotherapy Using Carboplatin plus Gemcitabine].
    • Sato T, Kouno T, Hirose S, Oikawa H, Machino C, Funakoshi S.
    • Gan To Kagaku Ryoho. 2020 Dec;47(13):1747-1749.
    • Case report. [Article in Japanese]
    • Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation.
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    • Gynecol Oncol. 2020 Dec;159(3):820-826. doi: 10.1016/j.ygyno.2020.09.037. Epub 2020 Sep 30.

    Related:

    Research news: Study: Breastfeeding may lower risk of ovarian cancer in women with BRCA mutations. (FORCE. XRAY.)

    Blog post: Did Breastfeeding my Daughter Reduce my Ovarian Cancer Risk? (FORCE. Blog.)

    • BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers.
    • Oliverio A, Bruno E, Colombo M, Paradiso A, Tommasi S, Daniele A, Terribile DA, Magno S, Guarino D, Manoukian S, Peissel B, Radice P, Pasanisi P.
    • Cancers (Basel). 2020 Nov 30;12(12):3584. doi: 10.3390/cancers12123584.
    • Evidence for familial clustering in breast cancer age of onset.
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    • Int J Epidemiol. 2020 Nov 28:dyaa201. doi: 10.1093/ije/dyaa201. Epub ahead of print.
    • TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.
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    Related:

    Letter, Commentary:

    In Response to "Pregnancy After Breast Cancer in Patients With Germline BRCA Mutations".

    Letter, Commentary:

    Reply to S. A. Narod et al.

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    Research news: Polygenic Variation Affects Disease Risk From Monogenic Variants, Study Finds. (GenomeWeb)

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    Research news: Gene Testing for Patients With Breast Cancer and Second Cancer. (Medscape)

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    Research news: Polygenic Risk Score Modifies Breast Cancer Risk in Pathogenic Variant Carriers. (GenomeWeb)

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    • Dullens B, de Putter R, Lambertini M, Toss A, Han S, Van Nieuwenhuysen E, Van Gorp T, Vanderstichele A, Van Ongeval C, Keupers M, Prevos R, Celis V, Dekervel J, Everaerts W, Wildiers H, Nevelsteen I, Neven P, Timmerman D, Smeets A, Denayer E, Van Buggenhout G, Legius E, Punie K.
    • J Oncol. 2020 Jun 20;2020:9873954. doi: 10.1155/2020/9873954.
    • Clinical characteristics and exploratory genomic analyses of germline BRCA1 or BRCA2 mutations in breast cancer.
    • Park S, Lee E, Park S, Lee S, Nam SJ, Kim SW, Lee JE, Yu JH, Kim JY, Ahn JS, Im YH, Park WY, Park K, Park YH.
    • Mol Cancer Res. 2020 Jun 17:molcanres.1108.2019. doi: 10.1158/1541-7786.MCR-19-1108. Epub ahead of print.
    • A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
    • Velázquez C, Lastra E, Avila Cobos F, Abella L, de la Cruz V, Hernando BA, Hernández L, Martínez N, Infante M, Durán M.
    • J Transl Med. 2020 Jun 10;18(1):232. doi: 10.1186/s12967-020-02391-z.
    • Study: What is the risk for contralateral breast cancer in women with an inherited BRCA1, BRCA2 or TP53 mutation?
    • [No author given]
    • FORCE. XRAYS. 2020 Jun 6.

    Related:

    Original research:

    Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer.

    • Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
    • Qin N, Wang Z, Liu Q, Song N, Wilson CL, Ehrhardt MJ, Shelton K, Easton J, Mulder H, Kennetz D, Edmonson MN, Rusch MC, Downing JR, Hudson MM, Nichols KE, Zhang J, Robison LL, Yasui Y.
    • J Clin Oncol. 2020 Jun 4:JCO1902760. doi: 10.1200/JCO.19.02760. Epub ahead of print.

    Related:

    Research news: Secondary Tumor Risk in Pediatric Cancer Survivors Linked to Germline Variants, Treatment Type. (GenomeWeb)

    • BRCA1 c.5470_5477del, a founder mutation in Chinese Han breast cancer patients.
    • Meng H, Yao L, Yuan H, Xu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Int J Cancer. 2020 Jun 1;146(11):3044-3052. doi: 10.1002/ijc.32877. Epub 2020 Feb 22.
    • Executive Summary of the Early-Onset Breast Cancer Evidence Review Conference.
    • Chelmow D, Pearlman MD, Young A, Bozzuto L, Dayaratna S, Jeudy M, Kremer ME, Scott DM, O'Hara JS.
    • Obstet Gynecol. 2020 Jun;135(6):1457-1478. doi: 10.1097/AOG.0000000000003889.
    • Polygenic Risk Score, Family History Refine Breast Cancer Risk Assessment in CHEK2 Mutation Carriers.
    • Anderson A.
    • Precision Oncology News. 2020 May 31.
    • Young onset breast cancer in Southern China - a 5-year clinico-pathological study from a multi-centre database.
    • Co M, Kwong A.
    • Cancer Treat Res Commun. 2020 May 30;24:100182. doi: 10.1016/j.ctarc.2020.100182. Epub ahead of print.
    • Comprehensive study for BRCA1 and BRCA2 entire coding regions in breast cancer.
    • Algebaly AS, Suliman RS, Al-Qahtani WS.
    • Clin Transl Oncol. 2020 May 25. doi: 10.1007/s12094-020-02385-9. Epub ahead of print.
    • Evaluation of breast screening strategies in a high risk breast and ovarian cancer clinic.
    • Knisely AT, Stewart ME, Garcia C, Thomas MH, Modesitt SC, Ring KL.
    • Gynecol Oncol Rep. 2020 May 22;33:100587. doi: 10.1016/j.gore.2020.100587.
    • Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.
    • Palmer JR, Polley EC, Hu C, John EM, Haiman C, Hart SN, Gaudet M, Pal T, Anton-Culver H, Trentham-Dietz A, Bernstein L, Ambrosone CB, Bandera EV, Bertrand KA, Bethea TN, Gao C, Gnanaolivu RD, Huang H, Lee KY, LeMarchand L, Na J, Sandler DP, Shah PD, Yadav S, Yang W, Weitzel JN, Domchek SM, Goldgar DE, Nathanson KL, Kraft P, Couch FJ.
    • J Natl Cancer Inst. 2020 May 19:djaa040. doi: 10.1093/jnci/djaa040. Epub ahead of print.

    Related:

    Editorial:

    Genetic Testing May Help Reduce Breast Cancer Disparities for African American Women.

    • BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy.
    • Toss A, Molinaro E, Venturelli M, Domati F, Marcheselli L, Piana S, Barbieri E, Grandi G, Piombino C, Marchi I, Tenedini E, Tagliafico E, Tazzioli G, Cortesi L.
    • Cancers (Basel). 2020 May 15;12(5):E1252. doi: 10.3390/cancers12051252.
    • Clinicopathological characteristics of BRCA-associated breast cancer in Asian patients.
    • Kim EK, Park SY, Kim SW.
    • J Pathol Transl Med. 2020 May 14. doi: 10.4132/jptm.2020.04.07. Epub ahead of print.
    • A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families.
    • Capoluongo E, De Matteis E, Cucinotto I, Ronzino G, Santonocito C, Tornesello A, De Giorgio MR, Lucci Cordisco E, Minucci A, Genuardi M.
    • Clin Chem Lab Med. 2020 May 12:/j/cclm.ahead-of-print/cclm-2020-0389/cclm-2020-0389.xml. doi: 10.1515/cclm-2020-0389. Epub ahead of print.
    • Case report, Letter
    • A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
    • Kaname T.
    • J Hum Genet. 2020 May 11. doi: 10.1038/s10038-020-0767-1. Epub ahead of print.

    Related:

    Original research:

    Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.

    • The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer.
    • van der Merwe NC, Oosthuizen J, Theron M, Chong G, Foulkes WD.
    • BMC Cancer. 2020 May 6;20(1):391. doi: 10.1186/s12885-020-06917-y.
    • Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer.
    • Greville-Heygate SL, Maishman T, Tapper WJ, Cutress RI, Copson E, Dunning AM, Haywood L, Jones LJ, Eccles DM.
    • JCO Precis Oncol. 2020 May 4;4:PO.19.00178. doi: 10.1200/PO.19.00178.
    • The Role of Circulating Adiponectin and SNP276G>T at ADIPOQ Gene in BRCA-mutant Women.
    • Daniele A, Paradiso AV, Divella R, Digennaro M, Patruno M, Tommasi S, Pilato B, Tufaro A, Barone M, Minoia C, Colangelo D, Savino E, Casamassima P, Bruno E, Oliverio A, Pasanisi P.
    • Cancer Genomics Proteomics. 2020 May-Jun;17(3):301-307. doi: 10.21873/cgp.20190.
    • Comparison of breast cancer incidence, clinicopathologic features, and risk factor prevalence in women aged 20-29 at diagnosis to those aged 30-39.
    • Limbach KE, Leon E, Pommier RF, Pommier SJ.
    • Breast J. 2020 May;26(5):1069-1070. doi: 10.1111/tbj.13783. Epub 2020 Feb 14.
    • [Case of Recurrent Breast Cancer with BRCA2 Mutation Successfully Treated with Olaparib Therapy].
    • Yoneda H, Shimizu Y, Masuda R.
    • Gan To Kagaku Ryoho. 2020 May;47(5):815-818.
    • Case report, [Article in Japanese]
    • The supplemental value of mammographic screening over breast MRI alone in BRCA2 mutation carriers.
    • Obdeijn IM, Mann RM, Loo CCE, Lobbes M, Voormolen EMC, van Deurzen CHM, de Bock G; Hereditary Breast Ovarian Cancer Research Group Netherlands (HEBON), Hooning MJ.
    • Breast Cancer Res Treat. 2020 Apr 24. doi: 10.1007/s10549-020-05642-1. [Epub ahead of print]
    • Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women.
    • Zeng C, Guo X, Wen W, Shi J, Long J, Cai Q, Shu XO, Xiang Y, Zheng W.
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    • Unanswered Questions: Hereditary breast and gynecological cancer risk assessment in transgender adolescents and young adults.
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    • J Genet Couns. 2020 Apr 18. doi: 10.1002/jgc4.1278. [Epub ahead of print]
    • Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts.
    • Giardiello D, Hauptmann M, Steyerberg EW, Adank MA, Akdeniz D, Blom JC, Blomqvist C, Bojesen SE, Bolla MK, Brinkhuis M, Chang-Claude J, Czene K, Devilee P, Dunning AM, Easton DF, Eccles DM, Fasching PA, Figueroa J, Flyger H, García-Closas M, Haeberle L, Haiman CA, Hall P, Hamann U, Hopper JL, Jager A, Jakubowska A, Jung A, Keeman R, Koppert LB, Kramer I, Lambrechts D, Le Marchand L, Lindblom A, Lubinski J, Manoochehri M, Mariani L, Nevanlinna H, Oldenburg HSA, Pelders S, Pharoah PDP, Shah M, Siesling S, Smit VTHBM, Southey MC, Tapper WJ, Tollenaar RAEM, van den Broek AJ, van Deurzen CHM, van Leeuwen FE, van Ongeval C, Van't Veer LJ, Wang Q, Wendt C, Westenend PJ, Hooning MJ, Schmidt MK.
    • Breast Cancer Res Treat. 2020 Apr 11. doi: 10.1007/s10549-020-05611-8. [Epub ahead of print]
    • [Detection of a BRCA1 c.2013_2014ins GT variant an ethnic Han Chinese pedigree affected with breast cancer].
    • Qi P, Gao L, He X, Ni Y, Xu S, Mai X, Zhang G, Liu Y, Guo Y, Zhou Y, Hu Q.
    • Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Apr 10;37(4):415-418. doi: 10.3760/cma.j.issn.1003-9406.2020.04.012.
    • Case report, [Article in Chinese]
    • Investigating the Link between Lynch Syndrome and Breast Cancer.
    • Sheehan M, Heald B, Yanda C, Kelly ED, Grobmyer S, Eng C, Kalady M, Pederson H.
    • Eur J Breast Health. 2020 Apr 1;16(2):106-109. doi: 10.5152/ejbh.2020.5198. eCollection 2020 Apr.
    • Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.
    • Patel AP, Wang M, Fahed AC, Mason-Suares H, Brockman D, Pelletier R, Amr S, Machini K, Hawley M, Witkowski L, Koch C, Philippakis A, Cassa CA, Ellinor PT, Kathiresan S, Ng K, Lebo M, Khera AV.
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    Related:

    Press: Family History Insufficient to Determine High Risk of Gene-Linked CVD or Cancer. (Clinical OMICs)

    • Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients: Clinical Testing with a Multigene Test Panel.
    • Kwong A, Shin VY, Chen J, Cheuk IWY, Ho CYS, Au CH, Chan KKL, Ngan HYS, Chan TL, Ford JM, Ma ESK.
    • J Mol Diagn. 2020 Apr;22(4):544-554. doi: 10.1016/j.jmoldx.2020.01.013. Epub 2020 Feb 15.
    • Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers.
    • McCrorie AD, Ashfield S, Begley A, Mcilmunn C, Morrison PJ, Boyd C, Eccles B, Greville-Heygate S, Copson ER, Cutress RI, Eccles DM, Savage KI, McIntosh SA.
    • J Pathol Clin Res. 2020 Apr;6(2):146-153. doi: 10.1002/cjp2.155. Epub 2020 Feb 5.
    • [Hereditary breast carcinomas pathologist's perspective].
    • Vincent-Salomon A, Bataillon G, Djerroudi L.
    • Ann Pathol. 2020 Mar 30. pii: S0242-6498(20)30059-6. doi: 10.1016/j.annpat.2020.02.023. [Epub ahead of print]
    • Review, [Article in French]
    • The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?
    • Høberg-Vetti H, Ognedal E, Buisson A, Vamre TBA, Ariansen S, Hoover JM, Eide GE, Houge G, Fiskerstrand T, Haukanes BI, Bjorvatn C, Knappskog PM.
    • Eur J Hum Genet. 2020 Mar 20. doi: 10.1038/s41431-020-0612-1. [Epub ahead of print]
    • An interesting case of likely BRCA2 related bilateral breast cancer with metastasis in the fimbrial part of fallopian tube.
    • Boltežar L, Gašljevic G, Novakovic S, Stegel V, Škof E.
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    • Frequency of mutations in BRCA genes and other candidate genes in high-risk probands or probands with breast or ovarian cancer in the Czech Republic.
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    • Mol Biol Rep. 2020 Mar 16. doi: 10.1007/s11033-020-05378-7. [Epub ahead of print]
    • The RAD52-S346X variant reduces risk of developing breast cancer in carriers of pathogenic germline BRCA2 mutations.
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    • Mol Oncol. 2020 Mar 16. doi: 10.1002/1878-0261.12665. [Epub ahead of print]
    • Recurrent Germline BRCA2 Gene Mutation in Lithuanian Family.
    • Sadzeviciene I, Jarmalaite S, Besusparis J, Liaugaudiene O, Asadauskiene J, Brasiuniene B, Kulikiene I, Sabaliauskaite R.
    • Medicina (Kaunas). 2020 Mar 10;56(3). pii: E119. doi: 10.3390/medicina56030119.
    • Radiation treatment, ATM, BRCA1/2, and CHEK2*1100delC pathogenic variants, and risk of contralateral breast cancer.
    • Reiner AS, Robson ME, Mellemkjær L, Tischkowitz M, John EM, Lynch CF, Brooks JD, Boice JD, Knight JA, Teraoka SN, Liang X, Woods M, Shen R, Shore RE, Stram DO, Thomas DC, Malone KE, Bernstein L, Riaz N, Woodward W, Powell S, Goldgar D, Concannon P; WECARE Study Collaborative Group, Bernstein JL.
    • J Natl Cancer Inst. 2020 Mar 2. pii: djaa031. doi: 10.1093/jnci/djaa031. [Epub ahead of print]
    • [Breast cancer in six families from Tolima and Huila: BRCA1 3450del4 mutation].
    • Benavides J, Suárez J, Estrada A, Bohórquez M, Ramírez C, Olaya J, Sánchez Y, Mateus G, Carvajal L, Echeverry MM.
    • Biomedica. 2020 Mar 1;40(1):185-194. doi: 10.7705/biomedica.4673.
    • Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome.
    • Breit C, Ablah E, Ward M, Okut H, Tenofsky PL.
    • Am J Surg. 2020 Mar;219(3):430-433. doi: 10.1016/j.amjsurg.2019.10.015. Epub 2019 Oct 11.

    Related:

    Commentary, Presentation:

    Discussion on: Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome.

    • BRCA1/BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies.
    • Lee A, Moon BI, Kim TH.
    • Ann Lab Med. 2020 Mar;40(2):114-121. doi: 10.3343/alm.2020.40.2.114.
    • Review

    Related:

    Introductory article:

    From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer.

    • A retrospective study on breast cancer presentation, risk factors, and protective factors in patients with a positive family history of breast cancer.
    • Liaw YY, Loong FS, Tan S, On SY, Khaw E, Chiew Y, Nordin R, Mat TN, Arulanantham S, Gandhi A.
    • Breast J. 2020 Mar;26(3):469-473. doi: 10.1111/tbj.13520. Epub 2019 Sep 4.
    • Breast Cancer in Men: A Single Center Experience Over a Period of 22 years.
    • Hoffman A, Ben Ishay O, Horesh N, Shabtai M, Forschmidt E, Rosin D, Gutman M, Ram E.
    • Isr Med Assoc J. 2020 Mar;22(3):160-163.
    • Non-Surgical Cancer Risk Reduction in BRCA1 Mutation Carriers: Disabling the Remote Control.
    • Widschwendter M, Dubeau L.
    • Cancers (Basel). 2020 Feb 27;12(3). pii: E547. doi: 10.3390/cancers12030547.
    • Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
    • Chen B, Zhang G, Li X, Ren C, Wang Y, Li K, Mok H, Cao L, Wen L, Jia M, Li C, Guo L, Wei G, Lin J, Li Y, Zhang Y, Han-Zhang H, Liu J, Lizaso A, Liao N.
    • Aging (Albany NY). 2020 Feb 24;12(4):3140-3155. doi: 10.18632/aging.102783. Epub 2020 Feb 24.
    • The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort.
    • Hu C, Polley EC, Yadav S, Lilyquist J, Shimelis H, Na J, Hart SN, Goldgar DE, Shah S, Pesaran T, Dolinsky JS, LaDuca H, Couch FJ.
    • J Natl Cancer Inst. 2020 Feb 24. pii: djaa023. doi: 10.1093/jnci/djaa023. [Epub ahead of print]
    • The spectrum of BRCA1 and BRCA2 mutations and clinicopathological characteristics in Chinese women with early-onset breast cancer.
    • Chen L, Fu F, Huang M, Lv J, Zhang W, Wang C.
    • Breast Cancer Res Treat. 2020 Feb 18. doi: 10.1007/s10549-020-05573-x. [Epub ahead of print]
    • Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.
    • Yanes T, Young MA, Meiser B, James PA.
    • Breast Cancer Res. 2020 Feb 17;22(1):21. doi: 10.1186/s13058-020-01260-3.
    • BRCA and PALB2 mutations in a cohort of male breast cancer with one bilateral case.
    • Vietri MT, Caliendo G, D'Elia G, Resse M, Casamassimi A, Minucci PB, Cioffi M, Molinari AM.
    • Eur J Med Genet. 2020 Feb 11:103883. doi: 10.1016/j.ejmg.2020.103883. [Epub ahead of print]
    • Concordance of Hormone Receptor Status and BRCA1/2 Mutation Among Women With Synchronous Bilateral Breast Cancer.
    • Huang L, Liu Q, Lang GT, Cao AY, Shao ZM.
    • Front Oncol. 2020 Feb 11;10:27. doi: 10.3389/fonc.2020.00027. eCollection 2020.
    • Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers in a large cohort of unselected Chinese breast cancer patients.
    • Su L, Xu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Int J Cancer. 2020 Feb 9. doi: 10.1002/ijc.32918. [Epub ahead of print]
    • Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer.
    • Hyder Z, Harkness EF, Woodward ER, Bowers NL, Pereira M, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ, Evans DG.
    • Cancers (Basel). 2020 Feb 7;12(2):378. doi: 10.3390/cancers12020378.

    Related:

    Research news: Study: What is the risk for contralateral breast cancer in women with an inherited BRCA1, BRCA2 or TP53 mutation? (FORCE XRAYS)

    • Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
    • Hata C, Nakaoka H, Xiang Y, Wang D, Yang A, Liu D, Liu F, Zou Q, Wei L, Zheng K, Inoue I, You H.
    • J Hum Genet. 2020 Feb 7. doi: 10.1038/s10038-020-0729-7. [Epub ahead of print]

    Related:

    Commentary, Research review:

    A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors

    • Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.
    • Shin HC, Lee HB, Yoo TK, Lee ES, Kim RN, Park B, Yoon KA, Park C, Lee ES, Moon HG, Noh DY, Kong SY, Han W.
    • Cancer Res Treat. 2020 Feb 4. doi: 10.4143/crt.2019.559. [Epub ahead of print]
    • Male Breast Cancer: Surgical and Genetic Features and a Multidisciplinary Management Strategy.
    • Pellini F, Granuzzo E, Urbani S, Mirandola S, Caldana M, Lombardi D, Fiorio E, Mandarà M, Pollini GP.
    • Breast Care (Basel). 2020 Feb;15(1):14-20. doi: 10.1159/000501711. Epub 2019 Sep 13.
    • Multigene panel testing results in patients with multiple breast cancer primaries.
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    • Breast J. 2020 Jan 30. doi: 10.1111/tbj.13762. [Epub ahead of print]
    • High risk of breast cancer in women with biallelic pathogenic variants in CHEK2.
    • Rainville I, Hatcher S, Rosenthal E, Larson K, Bernhisel R, Meek S, Gorringe H, Mundt E, Manley S.
    • Breast Cancer Res Treat. 2020 Jan 28. doi: 10.1007/s10549-020-05543-3. [Epub ahead of print]
    • Clinicopathological Features of Patients with the BRCA1 c.5339T>C (p.Leu1780Pro) Variant.
    • Park HS, Ryu JM, Park , Im SA, Jung SY, Kim EK, Park WC, Min JW, Lee J, You JY, Lee JE, Kim SW.
    • Cancer Res Treat. 2020 Jan 28. doi: 10.4143/crt.2019.351. [Epub ahead of print]
    • Effects of BRCA Germline Mutations on Triple-Negative Breast Cancer Prognosis.
    • Pogoda K, Niwinska A, Sarnowska E, Nowakowska D, Jagiello-Gruszfeld A, Siedlecki J, Nowecki Z.
    • J Oncol. 2020 Jan 27;2020:8545643. doi: 10.1155/2020/8545643. eCollection 2020.
    • The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
    • Figlioli G, Kvist A, Tham E, Soukupova J, Kleiblova P, Muranen TA, Andrieu N, Azzollini J, Balmaña J, Barroso A, Benítez J, Bertelsen B, Blanco A, Bonanni B, Borg Å, Brunet J, Calistri D, Calvello M, Chvojka S, Cortesi L, Darder E, Valle JD, Diez O, Consortium E, Eon-Marchais S, Fostira F, Gensini F, Houdayer C, Janatova M, Kiiski JI, Konstantopoulou I, Kubelka-Sabit K, Lázaro C, Lesueur F, Manoukian S, Marcinkute R, Mickys U, Moncoutier V, Myszka A, Nguyen-Dumont T, Nielsen FC, Norvilas R, Olah E, Osorio A, Papi L, Peissel B, Peixoto A, Plaseska-Karanfilska D, Pócza T, Rossing M, Rudaitis V, Santamariña M, Santos C, Smichkoska S, Southey MC, Stoppa-Lyonnet D, Teixeira M, Törngren T, Toss A, Urioste M, Vega A, Vlckova Z, Yannoukakos D, Zampiga V, Kleibl Z, Radice P, Nevanlinna H, Ehrencrona H, Janavicius R, Peterlongo P.
    • Cancers (Basel). 2020 Jan 26;12(2). pii: E292. doi: 10.3390/cancers12020292.
    • Breast cancer screening implications of risk modeling among female relatives of ATM and CHEK2 carriers.
    • Weidner AE, Liggin ME, Zuniga BI, Tezak AL, Wiesner GL, Pal T.
    • Cancer. 2020 Jan 22. doi: 10.1002/cncr.32715. [Epub ahead of print]
    • BRCA Mutation Association with Recurrence Score and Discordance in a Large Oncotype Database.
    • Blanter J, Zimmerman B, Tharakan S, Ru M, Cascetta K, Tiersten A.
    • Oncology. 2020 Jan 21:1-4. doi: 10.1159/000504965. [Epub ahead of print]
    • Prospective Evaluation of Universal BRCA Testing for Women With Triple-Negative Breast Cancer.
    • Emborgo TS, Saporito D, Muse KI, Barrera AMG, Litton JK, Lu KH, Arun BK.
    • JNCI Cancer Spectr. 2020 Jan 20;4(2):pkaa002. doi: 10.1093/jncics/pkaa002. eCollection 2020 Apr.
    • A Novel BRCA1 Gene Mutation Detected With Breast Cancer in a Vietnamese Family by Targeted Next-Generation Sequencing: A Case Report.
    • Van Thuan T, Van Chu N, Khoa PH, Quang NT, Van Tu D, Tho NTQ, Huyen PT, Ha BH, Han PT, Long DM, Phuong BTH.
    • Breast Cancer (Auckl). 2020 Jan 17;14:1178223420901555. doi: 10.1177/1178223420901555. eCollection 2020.
    • Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
    • Mavaddat N, Antoniou AC, Mooij TM, Hooning MJ, Heemskerk-Gerritsen BA; GENEPSO, Noguès C, Gauthier-Villars M, Caron O, Gesta P, Pujol P, Lortholary A; EMBRACE, Barrowdale D, Frost D, Evans DG, Izatt L, Adlard J, Eeles R, Brewer C, Tischkowitz M, Henderson A, Cook J, Eccles D; HEBON, van Engelen K, Mourits MJE, Ausems MGEM, Koppert LB, Hopper JL, John EM, Chung WK, Andrulis IL, Daly MB, Buys SS; kConFab Investigators, Benitez J, Caldes T, Jakubowska A, Simard J, Singer CF, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes AM, Roos-Blom MJ, Van Leeuwen FE, Arver B, Olsson H, Schmutzler RK, Engel C, Kast K, Phillips KA, Terry MB, Milne RL, Goldgar DE, Rookus MA, Andrieu N, Easton DF; IBCCS; kConFab; BCFR.
    • Breast Cancer Res. 2020 Jan 16;22(1):8. doi: 10.1186/s13058-020-1247-4.
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    Press: Polygenic Modifiers of Pathogenic Genes May Refine Disease Risk Prediction. (GenomeWeb)

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    • Image-based screening for men at high risk for breast cancer: Benefits and drawbacks.
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    • Review
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    • Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
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    • BMC Cancer. 2019 Nov 27;19(1):1145. doi: 10.1186/s12885-019-6277-x.
    • Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients.
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    Editorial:

    Toward Risk-Stratified Breast Cancer Screening: Considerations for Changes in Screening Guidelines.

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    Breast cancer screening programs: does one risk fit all?

    Letter, Comment:

    Determining the Appropriate Risk-Adapted Screening Age for Familial Breast Cancer.

    Letter, Reply:

    Determining the Appropriate Risk-Adapted Screening Age for Familial Breast Cancer-Reply.

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    • Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China.
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    • Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study.
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    • Hered Cancer Clin Pract. 2019 Sep 11;17:27. doi: 10.1186/s13053-019-0125-5. eCollection 2019.
    • Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.
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    • Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
    • Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schröck E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C.
    • BMC Cancer. 2019 Aug 8;19(1):787. doi: 10.1186/s12885-019-5946-0.
    • Correlation between Candidate Single Nucleotide Variants and Several Clinicopathological Risk Factors Related to Breast Cancer in Jordanian Women: A Genotype-Phenotype Study.
    • Al-Eitan LN, Rababa'h DM, Alghamdi MA, Khasawneh RH.
    • J Cancer. 2019 Aug 8;10(19):4647-4654. doi: 10.7150/jca.33857. eCollection 2019.
    • Functional analysis of clinical BARD1 germline variants.
    • Toh MR, Chong ST, Chan SH, Low CE, Ishak NDB, Lim JQ, Courtney E, Ngeow J.
    • Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). pii: a004093. doi: 10.1101/mcs.a004093. Print 2019 Aug.
    • BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors.
    • Lee A, Mavaddat N, Wilcox AN, Cunningham AP, Carver T, Hartley S, Babb de Villiers C, Izquierdo A, Simard J, Schmidt MK, Walter FM, Chatterjee N, Garcia-Closas M, Tischkowitz M, Pharoah P, Easton DF, Antoniou AC.
    • Genet Med. 2019 Aug;21(8):1708-1718. doi: 10.1038/s41436-018-0406-9. Epub 2019 Jan 15.
    • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
    • Stradella A, Del Valle J, Rofes P, Feliubadaló L, Grau Garces È, Velasco À, González S, Vargas G, Izquierdo Á, Campos O, Tornero E, Navarro M, Balmaña-Gelpi J, Capellá G, Pineda M, Brunet J, Lázaro C.
    • J Med Genet. 2019 Aug;56(8):521-525. doi: 10.1136/jmedgenet-2018-105700. Epub 2018 Dec 22.
    • MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomised, controlled trial.
    • Saadatmand S, Geuzinge HA, Rutgers EJT, Mann RM, de Roy van Zuidewijn DBW, Zonderland HM, Tollenaar RAEM, Lobbes MBI, Ausems MGEM, van 't Riet M, Hooning MJ, Mares-Engelberts I, Luiten EJT, Heijnsdijk EAM, Verhoef C, Karssemeijer N, Oosterwijk JC, Obdeijn IM, de Koning HJ, Tilanus-Linthorst MMA; FaMRIsc study group.
    • Lancet Oncol. 2019 Aug;20(8):1136-1147. doi: 10.1016/S1470-2045(19)30275-X. Epub 2019 Jun 17.

    Related:

    Comment:

    Underdiagnosis is the main challenge in breast cancer screening.

    Letter, Commentary:

    MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc).

    Research news: MRI or mammograms for detecting breast cancer in families with unknown genetic mutations? (FORCE. XRAYS.)

    • Molecular characteristics of breast cancer according to clinicopathological factors.
    • Huszno J, Kolosza Z.
    • Mol Clin Oncol. 2019 Aug;11(2):192-200. doi: 10.3892/mco.2019.1869. Epub 2019 May 28.
    • The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.
    • Bernstein-Molho R, Barnes-Kedar I, Ludman MD, Reznik G, Feldman HB, Samra NN, Eilat A, Peretz T, Peretz LP, Shapira T, Magal N, Kalis ML, Yerushalmi R, Vinkler C, Liberman S, Basel-Salmon L, Shohat M, Levy-Lahad E, Friedman E, Bazak L, Goldberg Y.
    • Breast Cancer Res Treat. 2019 Jul 31. doi: 10.1007/s10549-019-05379-6. [Epub ahead of print]
    • In BRCA mutation carriers breast conserving surgery may not be the best choice.
    • Trimboli RM, Schiaffino S, Sardanelli F.
    • Breast Cancer Res Treat. 2019 Jul 27. doi: 10.1007/s10549-019-05373-y. [Epub ahead of print]
    • Letter, Commentary

    Related:

    Original research:

    Risk of ipsilateral breast tumor recurrence in primary invasive breast cancer following breast-conserving surgery with BRCA1 and BRCA2 mutation in China.

    • Clinical Management of Patients at Risk for Hereditary Breast Cancer with Variants of Uncertain Significance in the Era of Multigene Panel Testing.
    • Chang J, Seng S, Yoo J, Equivel P, Lum SS.
    • Ann Surg Oncol. 2019 Jul 24. doi: 10.1245/s10434-019-07595-2. [Epub ahead of print]
    • CpG promoter hypo-methylation and up-regulation of microRNA-190b in hormone receptor-positive breast cancer.
    • Frick E, Gudjonsson T, Eyfjord J, Jonasson J, Tryggvadóttir L, Stefansson O, Sigurdsson S.
    • Oncotarget. 2019 Jul 23;10(45):4664-4678. doi: 10.18632/oncotarget.27083. eCollection 2019 Jul 23.
    • Assessing the effectiveness of the National Comprehensive Cancer Network genetic testing guidelines in identifying African American breast cancer patients with deleterious genetic mutations.
    • Ademuyiwa FO, Salyer P, Ma Y, Fisher S, Colditz G, Weilbaecher K, Bierut LJ.
    • Breast Cancer Res Treat. 2019 Jul 19. doi: 10.1007/s10549-019-05359-w. [Epub ahead of print]
    • The role of BRCA1/2 in hereditary and familial breast and ovarian cancers.
    • Hawsawi YM, Al-Numair NS, Sobahy TM, Al-Ajmi AM, Al-Harbi RM, Baghdadi MA, Oyouni AA, Alamer OM.
    • Mol Genet Genomic Med. 2019 Jul 17:e879. doi: 10.1002/mgg3.879. [Epub ahead of print]
    • Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort.
    • Zeinomar N, Phillips KA, Daly MB, Milne RL, Dite GS, MacInnis RJ, Liao Y, Kehm RD, Knight JA, Southey MC, Chung WK, Giles GG, McLachlan SA, Friedlander ML, Weideman PC, Glendon G, Nesci S; kConFab Investigators, Andrulis IL, Buys SS, John EM, Hopper JL, Terry MB.
    • Int J Cancer. 2019 Jul 15;145(2):370-379. doi: 10.1002/ijc.32112. Epub 2019 Feb 20.
    • Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy.
    • Rizzolo P, Zelli V, Silvestri V, Valentini V, Zanna I, Bianchi S, Masala G, Spinelli AM, Tibiletti MG, Russo A, Varesco L, Giannini G, Capalbo C, Calistri D, Cortesi L, Viel A, Bonanni B, Azzollini J, Manoukian S, Montagna M, Peterlongo P, Radice P, Palli D, Ottini L.
    • Int J Cancer. 2019 Jul 15;145(2):390-400. doi: 10.1002/ijc.32106. Epub 2019 Jan 24.
    • BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
    • Concolino P, Gelli G, Rizza R, Costella A, Scambia G, Capoluongo E.
    • Int J Mol Sci. 2019 Jul 12;20(14). pii: E3442. doi: 10.3390/ijms20143442.
    • One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.
    • Fostira F, Kostantopoulou I, Apostolou P, Papamentzelopoulou MS, Papadimitriou C, Faliakou E, Christodoulou C, Boukovinas I, Razis E, Tryfonopoulos D, Barbounis V, Vagena A, Vlachos IS, Kalfakakou D, Fountzilas G, Yannoukakos D.
    • J Med Genet. 2019 Jul 12. pii: jmedgenet-2019-106189. doi: 10.1136/jmedgenet-2019-106189. [Epub ahead of print]
    • A systematic review of the international prevalence of BRCA mutation in breast cancer.
    • Armstrong N, Ryder S, Forbes C, Ross J, Quek RG.
    • Clin Epidemiol. 2019 Jul 11;11:543-561. doi: 10.2147/CLEP.S206949. eCollection 2019.
    • Mammographic screening in male patients at high risk for breast cancer: is it worth it?
    • Marino MA, Gucalp A, Leithner D, Keating D, Avendano D, Bernard-Davila B, Morris EA, Pinker K, Jochelson MS.
    • Breast Cancer Res Treat. 2019 Jul 6. doi: 10.1007/s10549-019-05338-1. [Epub ahead of print]
    • New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients.
    • Gervas P, Klyuch B, Denisov E, Kiselev A, Molokov A, Pisareva L, Malinovskaya E, Choynzonov E, Cherdyntseva N.
    • Mol Biol Rep. 2019 Jul 4. doi: 10.1007/s11033-019-04928-y. [Epub ahead of print]
    • Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.
    • Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U.
    • Cancer Res Treat. 2019 Jul;51(3):992-1000. doi: 10.4143/crt.2018.356. Epub 2018 Oct 11.
    • Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer.
    • Vargas E, Torres Lopez DM, de Deugd R, Gil F, Nova A, Mora L, Viaña LF, Hernandez JD, Bruges R, Hamann U.
    • Oncologist. 2019 Jul;24(7):e475-e479. doi: 10.1634/theoncologist.2018-0346. Epub 2018 Dec 12.
    • Performance measures of magnetic resonance imaging plus mammography in the High Risk Ontario Breast Screening Program.
    • Chiarelli AM, Blackmore KM, Muradali D, Done SJ, Majpruz V, Weerasinghe A, Mirea L, Eisen A, Rabeneck L, Warner E.
    • J Natl Cancer Inst. 2019 Jun 24. pii: djz079. doi: 10.1093/jnci/djz079. [Epub ahead of print]

    Related:

    Editorial:

    Breast cancer screening in high-risk women: is MRI alone enough?

    • Annual versus biennial screening: diagnostic accuracy among concurrent cohorts within the Ontario Breast Screening Program.
    • Chiarelli AM, Blackmore KM, Mirea L, Done SJ, Majpruz V, Weerasinghe A, Rabeneck L, Muradali D.
    • J Natl Cancer Inst. 2019 Jun 24. pii: djz131. doi: 10.1093/jnci/djz131. [Epub ahead of print]
    • BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history.
    • Bisgin A, Boga I, Yalav O, Sonmezler O, Tug Bozdogan S.
    • Breast J. 2019 Jun 22. doi: 10.1111/tbj.13400. [Epub ahead of print]
    • Rate of BRCA mutation in patients tested under NCCN genetic testing criteria.
    • Beck AC, Yuan H, Liao J, Imperiale P, Shipley K, Erdahl LM, Sugg SL, Weigel RJ, Lizarraga IM.
    • Am J Surg. 2019 Jun 19. pii: S0002-9610(19)30247-8. doi: 10.1016/j.amjsurg.2019.06.012. [Epub ahead of print]
    • Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
    • Weitzel JN, Neuhausen SL, Adamson A, Tao S, Ricker C, Maoz A, Rosenblatt M, Nehoray B, Sand S, Steele L, Unzeitig G, Feldman N, Blanco AM, Hu D, Huntsman S, Castillo D, Haiman C, Slavin T, Ziv E.
    • Cancer. 2019 Jun 17. doi: 10.1002/cncr.32083. [Epub ahead of print]

    Related:

    Editorial:

    Genetic testing for breast cancer in the Hispanic community.

    • Reproductive factors associated with breast cancer risk in Li-Fraumeni syndrome.
    • Khincha PP, Best AF, Fraumeni JF Jr, Loud JT, Savage SA, Achatz MI.
    • Eur J Cancer. 2019 Jun 15;116:199-206. doi: 10.1016/j.ejca.2019.05.005. [Epub ahead of print]
    • Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.
    • Sagna T, Bonora E, Ouedraogo MNL, Fusco D, Zoure AA, Bisseye C, Djigma F, Kafando JG, Zongo N, Douamba Z, Obiri-Yeboah D, Turchetti D, Pietra V, Lompo OM, Ouedraogo C, Seri M, Simpore J.
    • Biomol Concepts. 2019 Jun 11;10(1):120-127. doi: 10.1515/bmc-2019-0015.
    • The Spectrum of Mutations Predisposing to Familial Breast Cancer in Poland.
    • Cybulski C, Kluźniak W, Huzarski T, Wokołorczyk D, Kashyap A, Rusak B, Stempa K, Gronwald J, Szymiczek A, Bagherzadeh M, Jakubowska A, Dębniak T, Lener M, Rudnicka H, Szwiec M, Jarkiewicz-Tretyn J, Stawicka M, Domagała P, Narod SA, Lubiński J, Akbari MR; Polish Hereditary Breast Cancer Consortium.
    • Int J Cancer. 2019 Jun 7. doi: 10.1002/ijc.32492. [Epub ahead of print]
    • Germline variants and somatic mutation signatures of breast cancer across populations of African and European ancestry in the US and Nigeria.
    • Wang S, Pitt JJ, Zheng Y, Yoshimatsu TF, Gao G, Sanni A, Oluwasola O, Ajani M, Fitzgerald D, Odetunde A, Khramtsova G, Hurley I, Popoola A, Falusi A, Ogundiran T, Obafunwa J, Ojengbede O, Ibrahim N, Barretina J, White KP, Huo D, Olopade O.
    • Int J Cancer. 2019 Jun 7. doi: 10.1002/ijc.32498. [Epub ahead of print]
    • Differential Profile of BRCA1 vs. BRCA2 Mutated Families: A Characterization of the Main Differences and Similarities in Patients.
    • Fernandes GC, Felicio PS, Michelli RAD, Coelho AS, Scapulatempo-Neto C, Palmero EI.
    • Asian Pac J Cancer Prev. 2019 Jun 1;20(6):1655-1660. doi: 10.31557/APJCP.2019.20.6.1655.
    • [Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.]
    • Kleiblová P, Stolařová L, Křížová K, Lhota F, Hojný J, Zemánková P, Havránek O, Vočka M, Černá M, Lhotová K, Borecká M, Janatová M, Soukupová J, Ševčík J, Zimovjanová M, Kotlas J, Panczak A, Veselá K, Červenková J, Schneiderová M, Burócziová M, Burdová K, Stránecký V, Foretová L, Macháčková E, Tavandzis S, Kmoch S, Macůrek L, Kleibl Z.
    • Klin Onkol. 2019 Summer;32(Supplementum2):36-50. doi: 10.14735/amko2019S36.
    • Risk of ipsilateral breast tumor recurrence in primary invasive breast cancer following breast-conserving surgery with BRCA1 and BRCA2 mutation in China.
    • Cao W, Xie Y, He Y, Li J, Wang T, Fan Z, Fan T, Ouyang T.
    • Breast Cancer Res Treat. 2019 Jun;175(3):749-754. doi: 10.1007/s10549-019-05199-8. Epub 2019 Mar 20.

    Related:

    Letter, Commentary:

    In BRCA mutation carriers breast conserving surgery may not be the best choice.

    • Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers.
    • Kotsopoulos J, Lubinski J, Lynch HT, Tung N, Armel S, Senter L, Singer CF, Fruscio R, Couch F, Weitzel JN, Karlan B, Foulkes WD, Moller P, Eisen A, Ainsworth P, Neuhausen SL, Olopade O, Sun P, Gronwald J, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Breast Cancer Res Treat. 2019 Jun;175(2):443-449. doi: 10.1007/s10549-019-05162-7. Epub 2019 Feb 12.
    • p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients.
    • Fortuno C, Pesaran T, Dolinsky J, Yussuf A, McGoldrick K, Kho PF, James PA, Spurdle AB.
    • Cancer Genet. 2019 Jun;235-236:21-27. doi: 10.1016/j.cancergen.2019.05.002. Epub 2019 Jun 6.
    • Molecular comparison of interval and screen-detected breast cancers.
    • Cheasley D, Li N, Rowley SM, Elder K, Mann GB, Loi S, Savas P, Goode DL, Kader T, Zethoven M, Semple T, Fox SB, Pang JM, Byrne D, Devereux L, Nickson C, Procopio P, Lee G, Hughes S, Saunders H, Fujihara KM, Kuykhoven K, Connaughton J, James PA, Gorringe KL, Campbell IG.
    • J Pathol. 2019 Jun;248(2):243-252. doi: 10.1002/path.5251. Epub 2019 Mar 8.
    • Hereditary Cancer Syndromes-A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes.
    • Samadder NJ, Giridhar KV, Baffy N, Riegert-Johnson D, Couch FJ.
    • Mayo Clin Proc. 2019 Jun;94(6):1084-1098. doi: 10.1016/j.mayocp.2019.02.017.
    • Male breast cancer: Specific biological characteristics and survival in a Portuguese cohort.
    • André S, Pereira T, Silva F, Machado P, Vaz F, Aparício M, Silva GL, Pinto AE.
    • Mol Clin Oncol. 2019 Jun;10(6):644-654. doi: 10.3892/mco.2019.1841. Epub 2019 Apr 8.
    • Clinical characteristics and outcomes in elderly women with BRCA1 and BRCA2 mutations.
    • Salyer C, Kobelka C, Barrie A, Weintraub MR, Powell CB.
    • Gynecol Oncol. 2019 May 31. pii: S0090-8258(19)31261-2. doi: 10.1016/j.ygyno.2019.05.017. [Epub ahead of print]
    • Breast Density in a Contemporary Cohort of Women With Ductal Carcinoma In Situ (DCIS).
    • Gooch JC, Chun J, Kaplowitz E, Kurz E, Guth A, Lee J, Schnabel F.
    • Ann Surg Oncol. 2019 May 30. doi: 10.1245/s10434-019-07479-5. [Epub ahead of print]
    • Randomized Double-Blind Placebo-Controlled Biomarker Modulation Study of Vitamin D in Premenopausal Women at High Risk for Breast Cancer (SWOG S0812).
    • Crew KD, Anderson GL, Hershman DL, Terry MB, Tehranifar P, Lew DL, Yee M, Brown EA, Kairouz SS, Kuwajerwala N, Bevers TB, Doster JE, Zarwan C, Kruper L, Minasian L, Ford LG, Arun BK, Neuhouser ML, Goodman GE, Brown PH.
    • Cancer Prev Res (Phila). 2019 May 28. pii: canprevres.0444.2018. doi: 10.1158/1940-6207.CAPR-18-0444. [Epub ahead of print]
    • Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing.
    • Al Hannan F, Keogh MB, Taha S, Al Buainain L.
    • Mol Genet Genomic Med. 2019 May 26:e771. doi: 10.1002/mgg3.771. [Epub ahead of print]
    • Breast cancer histologic subtypes show excess familial clustering.
    • Henry NL, Cannon-Albright LA.
    • Cancer. 2019 May 23. doi: 10.1002/cncr.32198. [Epub ahead of print]
    • Prevalence and Clinical Impact of TP53 Germline Mutations in Chinese Women with Breast Cancer.
    • Sheng S, Xu Y, Guo Y, Yao L, Hu L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Int J Cancer. 2019 May 21. doi: 10.1002/ijc.32424. [Epub ahead of print]
    • Aspirin Treatment Effect and Association with PIK3CA Mutation in Breast Cancer: A Biomarker Analysis.
    • Zhou Y, Simmons J, Jordan CD, Sonbol MB, Maihle N, Tang SC.
    • Clin Breast Cancer. 2019 May 18. pii: S1526-8209(19)30066-7. doi: 10.1016/j.clbc.2019.05.004. [Epub ahead of print]
    • Breast Cancer Susceptibility—Towards Individualised Risk Prediction.
    • Lakeman IMM, Schmidt MK, van Asperen CJ, Devilee P.
    • Curr Genet Med Rep. 2019 May 17. doi: 10.1007/s40142-019-00168-5. [Epub ahead of print]
    • Analysis of clinical characteristics of breast cancer patients with the Japanese founder mutation BRCA1 L63X.
    • Yoshida R, Watanabe C, Yokoyama S, Inuzuka M, Yotsumoto J, Arai M, Nakamura S, the Registration Committee of the Japanese HBOC consortium.
    • Oncotarget. 2019 May 14;10(35):3276-3284. doi: 10.18632/oncotarget.26852. eCollection 2019 May 14.
    • Breast cancer risk in BRCA1/2 mutation carriers and non-carriers under prospective intensified surveillance.
    • Engel C, Fischer C, Zachariae S, Bucksch K, Rhiem K, Giesecke J, Herold N, Wappenschmidt B, Hübbel V, Maringa M, Reichstein-Gnielinski S, Hahnen E, Bartram CR, Dikow N, Schott S, Speiser D, Horn D, Fallenberg EM, Kiechle M, Quante AS, Vesper AS, Fehm T, Mundhenke C, Arnold N, Leinert E, Just W, Siebers-Renelt U, Weigel S, Gehrig A, Wöckel A, Schlegelberger B, Pertschy S, Kast K, Wimberger P, Briest S, Loeffler M, Bick U, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).
    • Int J Cancer. 2019 May 13. doi: 10.1002/ijc.32396. [Epub ahead of print]
    • Performance of Screening Breast MRI across Women with Different Elevated Breast Cancer Risk Indications.
    • Sippo DA, Burk KS, Mercaldo SF, Rutledge GM, Edmonds C, Guan Z, Hughes KS, Lehman CD.
    • Radiology. 2019 May 7:181136. doi: 10.1148/radiol.2019181136. [Epub ahead of print]
    • Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer.
    • Diop JPD, Diallo RN, Bourdon-Huguenin V, Dem A, Diouf D, Dieng MM, Ba SA, Dia Y, Ka S, Mbengue B, Thiam A, Faye O, Diop PA, Sobol H, Dieye A.
    • BMC Med Genet. 2019 May 6;20(1):73. doi: 10.1186/s12881-019-0814-y.
    • Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
    • Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z.
    • Int J Cancer. 2019 May 3. doi: 10.1002/ijc.32385. [Epub ahead of print]
    • Who should get a contralateral prophylactic mastectomy for breast cancer?
    • Bedrosian I, Parker PA, Brewster AM.
    • Cancer. 2019 May 1;125(9):1400-1403. doi: 10.1002/cncr.31915. Epub 2019 Jan 15.
    • Case report, review
    • Interaction between genetic ancestry and common breast cancer susceptibility variants in Colombian women.
    • Torres D, Lorenzo Bermejo J, Garcia Mesa K, Gilbert M, Briceño I, Pohl-Zeidler S, González Silos R, Boekstegers F, Plass C, Hamann U.
    • Int J Cancer. 2019 May 1;144(9):2181-2191. doi: 10.1002/ijc.32023. Epub 2019 Jan 5.
    • The influence of reproductive factors on breast cancer risk in women with pathogenic mutations.
    • Gabriel Goidescu I, Caracostea G, Rotar IC, Eniu DT, Nemeti GI, Cruciat G, Stamatian F, Muresan D.
    • J BUON. 2019 May-Jun;24(3):1067-1074.
    • Breast cancer risk associated with BRCA1/2 variants in the Pakistani population.
    • Abbas S, Siddique A, Shahid N, Khan RT, Fatima W.
    • Breast Cancer. 2019 May;26(3):365-372. doi: 10.1007/s12282-018-0932-y. Epub 2018 Nov 14.
    • Differences between screen-detected and interval breast cancers among BRCA mutation carriers.
    • Pilewskie M, Zabor EC, Gilbert E, Stempel M, Petruolo O, Mangino D, Robson M, Jochelson MS.
    • Breast Cancer Res Treat. 2019 May;175(1):141-148. doi: 10.1007/s10549-018-05123-6. Epub 2019 Jan 23.
    • High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer.
    • Bick U, Engel C, Krug B, Heindel W, Fallenberg EM, Rhiem K, Maintz D, Golatta M, Speiser D, Rjosk-Dendorfer D, Lämmer-Skarke I, Dietzel F, Schäfer KWF, Leinert E, Weigel S, Sauer S, Pertschy S, Hofmockel T, Hagert-Winkler A, Kast K, Quante A, Meindl A, Kiechle M, Loeffler M, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).
    • Breast Cancer Res Treat. 2019 May;175(1):217-228. doi: 10.1007/s10549-019-05152-9. Epub 2019 Feb 6.
    • Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients.
    • Kim HN, Shin MH, Lee R, Park MH, Kweon SS.
    • Chonnam Med J. 2019 May;55(2):99-103. doi: 10.4068/cmj.2019.55.2.99. Epub 2019 May 23.
    • Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer.
    • Adaniel C, Salinas F, Donaire JM, Bravo ME, Peralta O, Paredes H, Aliaga N, Sola A, Neira P, Behnke C, Rodriguez T, Torres S, Lopez F, Hurtado C.
    • J Glob Oncol. 2019 May;(5):1-14. doi: 10.1200/JGO.18.00163.
    • Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics - the Cohort study of TP53 carrier early onset breast cancer (COPE study).
    • Packwood K, Martland G, Sommerlad M, Shaw E, Moutasim K, Thomas G, Bateman A, Jones L, Haywood L, Evans DG, Birch JM, Alsalmi OA, Henderson A, Poplawski N, Eccles DM.
    • J Pathol Clin Res. 2019 Apr 30. doi: 10.1002/cjp2.133. [Epub ahead of print]
    • Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
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    Related:

    BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.

    • Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients.
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    Related:

    Press: Genetic Testing Under-Utilized in Ovarian Cancer. (Medscape Oncology)

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    • Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
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    • Identifying a BRCA2 c.5722_5723del mutation in a Han-Chinese family with breast cancer.
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    • Metachronous Contralateral Male Breast Cancer: Case Report and Literature Review.
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    • The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers.
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    • Int J Cancer. 2019 Apr 1;144(7):1761-1763. doi: 10.1002/ijc.32016. Epub 2019 Jan 6.
    • Letter

    Related:

    Letter, Reply:

    Response to: The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers.

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    Related:

    Review, Research news:

    More Is More: Semiannual Breast MRI Screening in BRCA1 Mutation Carriers.

    • Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.
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    • PLoS One. 2019 Mar 15;14(3):e0213746. doi: 10.1371/journal.pone.0213746. eCollection 2019.
    • Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy.
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    • Hered Cancer Clin Pract. 2019 Mar 14;17:10. doi: 10.1186/s13053-019-0109-5. eCollection 2019.
    • Prophylactic irradiation to the contralateral breast for BRCA mutation carriers with early-stage breast cancer.
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    • Ann Oncol. 2019 Mar 1;30(3):412-417. doi: 10.1093/annonc/mdy515.

    Related:

    Editorial:

    Is bilateral radiation an option for BRCA mutation carriers with unilateral breast cancer?

    • BRCA1 represses DNA replication initiation through antagonizing estrogen signaling and maintains genome stability in parallel with WEE1-MCM2 signaling during pregnancy.
    • Xu X, Chen E, Mo L, Zhang L, Shao F, Miao K, Liu J, Su SM, Valecha M, In Chan U, Zheng H, Chen M, Chen W, Chen Q, Fu H, Aladjem MI, He Y, Deng CX.
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    • Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort.
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    • BRCA1/BRCA2 mutations in Japanese women with ductal carcinoma in situ.
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    • The clinical impact of MRI screening for BRCA mutation carriers: the first report in Japan.
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    • BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
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    • Letter, Comment

    Related:

    Original research:

    Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

    Letter, Comment:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Comment:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Reply:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6-Reply.

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