UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2

被引：26

作者：

Hanson, Helen ^{[1
,2
]}

Kulkarni, Anjana ^{[3
]}

Loong, Lucy ^{[2
]}

Kavanaugh, Grace ^{[2
]}

Torr, Bethany ^{[2
]}

Allen, Sophie ^{[2
]}

Ahmed, Munaza ^{[4
]}

Antoniou, Antonis C. ^{[5
]}

Cleaver, Ruth ^{[6
]}

Dabir, Tabib ^{[7
]}

Evans, D. Gareth ^{[8
,9
]}

Golightly, Ellen ^{[10
]}

Jewell, Rosalyn ^{[11
]}

Kohut, Kelly ^{[1
]}

Manchanda, Ranjit ^{[12
,13
,14
]}

Murray, Alex ^{[15
]}

Murray, Jennie ^{[16
]}

Ong, Kai-Ren ^{[17
]}

Rosenthal, Adam N. ^{[18
]}

Woodward, Emma Roisin ^{[9
,19
]}

Eccles, Diana M. ^{[20
]}

Turnbull, Clare ^{[2
]}

Tischkowitz, Marc ^{[21
]}

Lalloo, Fiona ^{[19
]}

机构：

[1] St Georges Univ Hosp NHS Fdn Trust, South West Thames Reg Genet Serv, London, England

[2] Inst Canc Res, Div Genet & Epidemiol, Sutton, England

[3] Guys & St ThomasNHS Fdn Trust, Dept Clin Genet, London, England

[4] Great Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, London, England

[5] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England

[6] Royal Devon & Exeter NHS Fdn Trust, Dept Clin Genet, Exeter, England

[7] Belfast City Hosp, Northern Ireland Reg Genet Ctr, Belfast, North Ireland

[8] Manchester Univ NHS Fdn Trust, Manchester Ctr Genom Med, Manchester, England

[9] Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester, England

[10] Chalmers Sexual Hlth Ctr, Lothian Menopause Serv, Edinburgh, Scotland

[11] Leeds Teaching Hosp NHS Trust, Dept Clin Genet, Leeds, England

[12] Queen Mary Univ London, Wolfson Inst Populat Hlth, Barts CRUK Canc Ctr, London, England

[13] London Sch Hyg & Trop Med, Dept Hlth Serv Res & Policy, London, England

[14] Barts Hlth NHS Trust, Dept Gynaecol Oncol, London, England

[15] Univ Hosp Wales, All Wales Med Genom Serv, Cardiff, Wales

[16] Western Gen Hosp, South East Scotland Clin Genet Serv, Edinburgh, Scotland

[17] Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham, England

[18] Univ Coll London Hosp NHS Fdn Trust, Dept Gynaecol Oncol, London, England

[19] Cent Manchester NHS Fdn Trust, Manchester Ctr Genom Med, Manchester, England

[20] Univ Southampton, Fac Med, Canc Sci, Southampton, England

[21] Univ Cambridge, Natl Inst Hlth Res Cambridge Biomed Res Ctr, Dept Med Genet, Cambridge, England

来源：

JOURNAL OF MEDICAL GENETICS | 2023年 / 60卷 / 05期

关键词：

Genetic Carrier Screening; Gynecology; Clinical Decision-Making; Delivery of Health Care; Genetic Predisposition to Disease; BRCA1/2 MUTATION CARRIERS; OVARIAN-CANCER; SALPINGO-OOPHORECTOMY; CONFER SUSCEPTIBILITY; LYNCH SYNDROME; REDUCTION; GUIDELINES; MENOPAUSE; SURVIVAL; SURGERY;

D O I：

10.1136/jmg-2022-108898

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Germline pathogenic variants (GPVs) in the cancer predisposition genes BRCA1, BRCA2, MLH1, MSH2, MSH6, BRIP1, PALB2, RAD51D and RAD51C are identified in approximately 15% of patients with ovarian cancer (OC). While there are clear guidelines around clinical management of cancer risk in patients with GPV in BRCA1, BRCA2, MLH1, MSH2 and MSH6, there are few guidelines on how to manage the more moderate OC risk in patients with GPV in BRIP1, PALB2, RAD51D and RAD51C, with clinical questions about appropriateness and timing of risk-reducing gynaecological surgery. Furthermore, while recognition of RAD51C and RAD51D as OC predisposition genes has been established for several years, an association with breast cancer (BC) has only more recently been described and clinical management of this risk has been unclear. With expansion of genetic testing of these genes to all patients with non-mucinous OC, new data on BC risk and improved estimates of OC risk, the UK Cancer Genetics Group and CanGene-CanVar project convened a 2-day meeting to reach a national consensus on clinical management of BRIP1, PALB2, RAD51D and RAD51C carriers in clinical practice. In this paper, we present a summary of the processes used to reach and agree on a consensus, as well as the key recommendations from the meeting.

引用

页码：417 / 429

页数：13

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