Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

被引：7

作者：

O'Mahony, Denise G. ^{[1
,2
]}

Ramus, Susan J. ^{[3
,4
]}

Southey, Melissa C. ^{[5
,6
,7
]}

Meagher, Nicola S. ^{[3
,4
,8
]}

Hadjisavvas, Andreas ^{[2
]}

John, Esther M. ^{[9
,10
]}

Hamann, Ute ^{[11
]}

Imyanitov, Evgeny N. ^{[12
]}

Andrulis, Irene L. ^{[13
,14
]}

Sharma, Priyanka ^{[15
]}

Daly, Mary B. ^{[16
]}

Hake, Christopher R. ^{[17
]}

Weitzel, Jeffrey N. ^{[18
]}

Jakubowska, Anna ^{[19
,20
]}

Godwin, Andrew K. ^{[21
]}

Arason, Adalgeir ^{[22
,23
]}

Bane, Anita ^{[24
,25
]}

Simard, Jacques ^{[26
]}

Soucy, Penny ^{[26
]}

Caligo, Maria A. ^{[27
]}

Mai, Phuong L. ^{[28
]}

Claes, Kathleen B. M. ^{[29
]}

Teixeira, Manuel R. ^{[30
,31
,32
]}

Chung, Wendy K. ^{[33
,34
]}

Lazaro, Conxi ^{[35
]}

Hulick, Peter J. ^{[36
,37
]}

Toland, Amanda E. ^{[38
]}

Pedersen, Inge Sokilde ^{[39
,40
,41
]}

Neuhausen, Susan L. ^{[42
]}

Vega, Ana ^{[43
,44
,45
]}

de la Hoya, Miguel ^{[46
]}

Nevanlinna, Heli ^{[47
]}

Dhawan, Mallika ^{[48
]}

Zampiga, Valentina ^{[49
]}

Danesi, Rita ^{[50
]}

Varesco, Liliana ^{[51
]}

Gismondi, Viviana ^{[51
]}

Vellone, Valerio Gaetano ^{[52
]}

James, Paul A. ^{[53
]}

Janavicius, Ramunas ^{[54
,55
]}

Nikitina-Zake, Liene ^{[56
]}

Nielsen, Finn Cilius ^{[57
]}

van Overeem Hansen, Thomas ^{[58
,59
]}

Pejovic, Tanja ^{[60
,61
]}

Borg, Ake ^{[62
,63
]}

Rantala, Johanna ^{[64
]}

Offit, Kenneth ^{[65
,66
]}

Montagna, Marco ^{[67
]}

Nathanson, Katherine L. ^{[68
]}

Domchek, Susan M. ^{[68
]}

机构：

[1] Cyprus Inst Neurol & Genet, Biostat Unit, CY-2371 Nicosia, Cyprus

[2] Cyprus Inst Neurol & Genet, Dept Canc Genet Therapeut & Ultrastruct Pathol, CY-2371 Nicosia, Cyprus

[3] Univ New South Wales Sydney, Univ New South Wales Med & Hlth, Sch Clin Med, Sydney, NSW 2052, Australia

[4] Univ New South Wales Sydney, Adult Canc Program, Lowy Canc Res Ctr, Sydney, NSW 2052, Australia

[5] Monash Univ, Sch Clin Sci Monash Hlth, Precis Med, Clayton, Vic 3168, Australia

[6] Univ Melbourne, Dept Clin Pathol, Melbourne, Vic 3010, Australia

[7] Canc Council Victoria, Canc Epidemiol Div, Melbourne, Vic 3004, Australia

[8] Univ Sydney, Daffodil Ctr, Sydney, NSW, Australia

[9] Stanford Univ, Sch Med, Dept Epidemiol & Populat Hlth, Stanford, CA 94305 USA

[10] Stanford Univ, Sch Med, Stanford Canc Inst, Dept Med,Div Oncol, Stanford, CA 94304 USA

[11] German Canc Res Ctr, Mol Genet Breast Canc, D-69120 Heidelberg, Germany

[12] NN Petrov Inst Oncol, St Petersburg 197758, Russia

[13] Mt Sinai Hosp, Fred A Litwin Ctr Canc Genet, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada

[14] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada

[15] Univ Kansas, Med Ctr, Div Med Oncol, Dept Internal Med, Westwood, KS 66205 USA

[16] Fox Chase Canc Ctr, Dept Clin Genet, Philadelphia, PA 19111 USA

[17] Waukesha Mem Hosp Pro Hlth Care, Waukesha, WI 53188 USA

[18] Univ Kansas, Ctr Canc, Kansas City, MO 66160 USA

[19] Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, PL-171252 Szczecin, Poland

[20] Pomeranian Med Univ, Independent Lab Mol Biol & Genet Diagnost, PL-171252 Szczecin, Poland

[21] Univ Kansas, Med Ctr, Dept Pathol & Lab Med, Kansas City, KS 66160 USA

[22] Landspitali Univ Hosp, Dept Pathol, IS-101 Reykjavik, Iceland

[23] Univ Iceland, Fac Med, BMC Biomed Ctr, IS-101 Reykjavik, Iceland

[24] McMaster Univ, Juravinski Hosp, Dept Pathol & Mol Med, Hamilton, ON L8V 1C3, Canada

[25] McMaster Univ, Ctr Canc, Hamilton, ON L8V 1C3, Canada

[26] Univ Laval, Res Ctr, Ctr Hosp Univ Quebec, Genom Ctr, Quebec City, PQ G1V 4G2, Canada

[27] Univ Hosp, SOD Genet Mol, I-56126 Pisa, Italy

[28] Univ Pittsburgh, Sch Med, Magee Womens Hosp, Pittsburgh, PA 15213 USA

[29] Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium

[30] Portuguese Oncol Inst Porto, Ctr Comprehens Canc, Dept Lab Genet, P-4200072 Porto, Portugal

[31] Univ Porto, Sch Med, P-4050013 Porto, Portugal

[32] Univ Porto, Biomed Sci Inst ICBAS, P-4050013 Porto, Portugal

[33] Columbia Univ, Dept Pediat, New York, NY 10032 USA

[34] Columbia Univ, Dept Med, New York, NY 10032 USA

[35] CIBERONC, Catalan Inst Oncol, Hereditary Canc Program, ONCOBELL IDIBELL IGTP, Barcelona 08908, Spain

[36] NorthShore Univ HealthSyst, Ctr Med Genet, Evanston, IL 60201 USA

[37] Univ Chicago, Pritzker Sch Med, Chicago, IL 60637 USA

[38] Ohio State Univ, Dept Canc Biol & Genet, Columbus, OH 43210 USA

[39] Aalborg Univ Hosp, Mol Diagnost, DK-9000 Aalborg, Denmark

[40] Aalborg Univ Hosp, Clin Canc Res Ctr, DK-9000 Aalborg, Denmark

[41] Aalborg Univ, Dept Clin Med, DK-9000 Aalborg, Denmark

[42] Beckman Res Inst City Hope, Dept Populat Sci, Duarte, CA 91010 USA

[43] Ctr Invest Red Enfermedades Raras CIBERER, Madrid 28029, Spain

[44] Fdn Publ Galega Med Xenom, Santiago De Compostela 15706, Spain

[45] Complejo Hosp Univ Santiago, SERGAS, Inst Invest Sanitaria Santiago de Compostela IDIS, Santiago De Compostela 15706, Spain

[46] IdISSC Inst Invest Sanitaria Hosp Clin San Carlos, Hosp Clin San Carlos, Mol Oncol Lab, CIBERONC, Madrid 28040, Spain

[47] Univ Helsinki, Helsinki Univ Hosp, Dept Obstet & Gynecol, Helsinki 00290, Finland

[48] Univ Calif San Francisco, Canc Genet & Prevent Program, San Francisco, CA 94143 USA

[49] IRCCS Ist Romagnolo Studio Tumori IRST Dino Amado, Biosci Lab, Meldola, Italy

[50] IRCCS Ist Romagnolo Studio Tumori IRST Dino Amado, Romagna Canc Registry, I-47014 Meldola, Italy

来源：

BRITISH JOURNAL OF CANCER | 2023年 / 128卷 / 12期

基金：

澳大利亚国家健康与医学研究理事会; 英国医学研究理事会; 芬兰科学院; 加拿大健康研究院; 美国国家卫生研究院; 俄罗斯科学基金会;

关键词：

GERMLINE MUTATIONS; UNCERTAIN SIGNIFICANCE; CLINICAL-SIGNIFICANCE; UNKNOWN SIGNIFICANCE; SEQUENCE VARIANTS; CARCINOMA; RECOMMENDATIONS; FREQUENCY; SERIES; CLASSIFICATION;

D O I：

10.1038/s41416-023-02263-5

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

BackgroundThe distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.MethodsData for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pathogenicity. Estimates were aligned to ACMG/AMP code strengths (supporting, moderate, strong).ResultsNo histological subtype provided informative ACMG/AMP evidence in favour of BRCA1 and BRCA2 variant pathogenicity. Evidence against variant pathogenicity was estimated for the mucinous and clear cell histologies (supporting) and borderline cases (moderate). Refined associations are provided according to tumour grade, invasion and age at diagnosis.ConclusionsWe provide detailed estimates for predicting BRCA1 and BRCA2 variant pathogenicity based on ovarian tumour characteristics. This evidence can be combined with other variant information under the ACMG/AMP classification system, to improve classification and carrier clinical management.

引用

页码：2283 / 2294

页数：12

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