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1. Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting

Author

Best, MC, Butow, P, Savard, Jacqueline, Jacobs, C, Bartley, N, Davies, G, Napier, CE, Ballinger, ML, Thomas, DM, Biesecker, B, Tucker, KM, Juraskova, I, Meiser, B, Schlub, T, Newson, AJ, Best, MC, Butow, P, Savard, Jacqueline, Jacobs, C, Bartley, N, Davies, G, Napier, CE, Ballinger, ML, Thomas, DM, Biesecker, B, Tucker, KM, Juraskova, I, Meiser, B, Schlub, T, and Newson, AJ

Abstract

AbstractGermline genome sequencing (GS) holds great promise for cancer prevention by identifying cancer risk and guiding prevention strategies, however research evidence is mixed regarding patient preferences for receiving GS results. The aim of this study was to discern preferences for return of results by cancer patients who have actually undergone GS. We conducted a mixed methods study with a cohort of cancer probands (n = 335) and their genetic relatives (n = 199) undergoing GS in a research setting. Both groups completed surveys when giving consent. A subset of participants (n = 40) completed semi-structured interviews. A significantly higher percentage of probands thought people would like to be informed about genetic conditions for which there is prevention or treatment that can change cancer risk compared to conditions for which there is no prevention or treatment (93% [311] versus 65% [216]; p < 0.001). Similar results were obtained for relatives (91% [180] versus 61% [121]; p < 0.001). Themes identified in the analysis of interviews were: (1) Recognised benefits of GS, (2) Balancing benefits with risks, (3) Uncertain results are perceived as unhelpful and (4) Competing obligations. While utility was an important discriminator in what was seen as valuable for this cohort, there was a variety of responses. In view of varied participant preferences regarding return of results, it is important to ensure patient understanding of test validity and identify individual choices at the time of consent to GS. The nature and value of the information, and a contextual understanding of researcher obligations should guide res

Published
2022

2. Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene

Author

Win, AK, Reece, JC, Buchanan, DD, Clendenning, M, Young, JP, Cleary, SP, Kim, H, Cotterchio, M, Dowty, JG, MacInnis, RJ, Tucker, KM, Winship, IM, Macrae, FA, Burnett, T, Le Marchand, L, Casey, G, Haile, RW, Newcomb, PA, Thibodeau, SN, Lindor, NM, Hopper, JL, Gallinger, S, Jenkins, MA, Win, AK, Reece, JC, Buchanan, DD, Clendenning, M, Young, JP, Cleary, SP, Kim, H, Cotterchio, M, Dowty, JG, MacInnis, RJ, Tucker, KM, Winship, IM, Macrae, FA, Burnett, T, Le Marchand, L, Casey, G, Haile, RW, Newcomb, PA, Thibodeau, SN, Lindor, NM, Hopper, JL, Gallinger, S, and Jenkins, MA

Abstract

The base excision repair protein, MUTYH, functionally interacts with the DNA mismatch repair (MMR) system. As genetic testing moves from testing one gene at a time, to gene panel and whole exome next generation sequencing approaches, understandin g the risk associated with co-existence of germline mutations in these genes will be important for clinical interpretation and management. From the Colon Cancer Family Registry, we identified 10 carriers who had both a MUTYH mutation (6 with c.1187G>A p.(Gly396Asp), 3 with c.821G>A p.(Arg274Gln), and 1 with c.536A>G p.(Tyr179Cys)) and a MMR gene mutation (3 in MLH1, 6 in MSH2, and 1 in PMS2), 375 carriers of a single (monoallelic) MUTYH mutation alone, and 469 carriers of a MMR gene mutation alone. Of the 10 carriers of both gene mutations, 8 were diagnosed with colorectal cancer. Using a weighted cohort analysis, we estimated that risk of colorectal cancer for carriers of both a MUTYH and a MMR gene mutation was substantially higher than that for carriers of a MUTYH mutation alone [hazard ratio (HR) 21.5, 95% confidence interval (CI) 9.19-50.1; p < 0.001], but not different from that for carriers of a MMR gene mutation alone (HR 1.94, 95% CI 0.63-5.99; p = 0.25). Within the limited power of this study, there was no evidence that a monoallelic MUTYH gene mutation confers additional risk of colorectal cancer for carriers of a MMR gene mutation alone. Our finding suggests MUTYH mutation testing in MMR gene mutation carriers is not clinically informative.

Published
2015

3. Importance of updating family cancer history in childhood cancer survivors.

Author

Russo S, Warby M, Tucker KM, Wakefield CE, and Cohn RJ

Subjects
Adolescent, Adult, Aged, Australia, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Humans, Infant, Infant, Newborn, Male, Middle Aged, Neoplastic Syndromes, Hereditary genetics, Young Adult, Cancer Survivors, Pedigree
Abstract

Estimates of the number of childhood cancers with a genetic basis range from 5-8.5% found in germline samples to 29% based on clinical criteria. Family history-taking practice is a fundamental first step in detecting at risk individuals and families. This study focused on Li-Fraumeni Syndrome (LFS), a highly penetrant cancer syndrome. Reported family history in a cohort of 648 of cancer survivor cohort (CCS) was examined. Eligible CCS were: (i) aged up to 14 years at diagnosis; (ii) more than 5 years postdiagnosis; (iii) treated for a childhood cancer at the study hospitals in NSW, Australia; (iv) in remission for more than 3 years. CCS completed self-administered questionnaires. Medical records confirmed diagnosis and treatment-related information. Our findings reveal an increased cancer risk among sibling and relatives of CCS. 91% of siblings diagnosed with cancer were diagnosed under the age of 40 and about 30% diagnosed under the aged of 15 revealing a 5- (RR = 5.1; 95% CI, 3.3-7.9) and 44-fold (RR = 44.6; 95% CI, 18.4-108.3) increased risked of cancer compared with the Australian population, respectively. About 2% of CCS reported that they had been diagnosed with a genetic cancer syndrome. However, 11% of survivors described a family history pattern which met Chompret criteria for screening for TP53 mutations associated with LFS. Our data suggests that familial cancer predispositions may be initially overlooked. Aperiodic and accurate ascertainment of family cancer history of childhood cancer patients and survivors is therefore recommended.

Published
2017
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4. Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.

Author

Win AK, Reece JC, Buchanan DD, Clendenning M, Young JP, Cleary SP, Kim H, Cotterchio M, Dowty JG, MacInnis RJ, Tucker KM, Winship IM, Macrae FA, Burnett T, Le Marchand L, Casey G, Haile RW, Newcomb PA, Thibodeau SN, Lindor NM, Hopper JL, Gallinger S, and Jenkins MA

Subjects
Adult, Aged, Aged, 80 and over, Colorectal Neoplasms pathology, Female, Follow-Up Studies, Humans, Male, Middle Aged, Mismatch Repair Endonuclease PMS2, MutL Protein Homolog 1, Neoplasm Staging, Prognosis, Risk Factors, Adaptor Proteins, Signal Transducing genetics, Adenosine Triphosphatases genetics, Colorectal Neoplasms genetics, DNA Glycosylases genetics, DNA Repair Enzymes genetics, DNA-Binding Proteins genetics, MutS Homolog 2 Protein genetics, Mutation genetics, Nuclear Proteins genetics
Abstract

The base excision repair protein, MUTYH, functionally interacts with the DNA mismatch repair (MMR) system. As genetic testing moves from testing one gene at a time, to gene panel and whole exome next generation sequencing approaches, understandin g the risk associated with co-existence of germline mutations in these genes will be important for clinical interpretation and management. From the Colon Cancer Family Registry, we identified 10 carriers who had both a MUTYH mutation (6 with c.1187G>A p.(Gly396Asp), 3 with c.821G>A p.(Arg274Gln), and 1 with c.536A>G p.(Tyr179Cys)) and a MMR gene mutation (3 in MLH1, 6 in MSH2, and 1 in PMS2), 375 carriers of a single (monoallelic) MUTYH mutation alone, and 469 carriers of a MMR gene mutation alone. Of the 10 carriers of both gene mutations, 8 were diagnosed with colorectal cancer. Using a weighted cohort analysis, we estimated that risk of colorectal cancer for carriers of both a MUTYH and a MMR gene mutation was substantially higher than that for carriers of a MUTYH mutation alone [hazard ratio (HR) 21.5, 95% confidence interval (CI) 9.19-50.1; p < 0.001], but not different from that for carriers of a MMR gene mutation alone (HR 1.94, 95% CI 0.63-5.99; p = 0.25). Within the limited power of this study, there was no evidence that a monoallelic MUTYH gene mutation confers additional risk of colorectal cancer for carriers of a MMR gene mutation alone. Our finding suggests MUTYH mutation testing in MMR gene mutation carriers is not clinically informative.

Published
2015
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5. Screening behavior in women at increased familial risk for breast cancer.

Author

Antill YC, Reynolds J, Young MA, Kirk JA, Tucker KM, Bogtstra TL, Wong SS, Dudding TE, Di Iulio JL, and Phillips KA

Subjects
Adult, Aged, Breast Neoplasms genetics, Breast Neoplasms psychology, Breast Self-Examination, CA-125 Antigen blood, Female, Humans, Mammography, Middle Aged, Ovarian Neoplasms genetics, Ovarian Neoplasms psychology, Risk, Breast Neoplasms diagnosis, Ovarian Neoplasms diagnosis, Patient Compliance
Abstract

This multicenter study examined the adherence of high-risk women to screening recommendations for breast and ovarian cancer following consultation at a familial cancer clinic (FCC). Self-report questionnaires assessing recall of screening advice, tests undertaken, risk perception, anxiety (Impact of Events Scale) and demographics were mailed to 396 consecutive eligible women who had attended one of six FCCs a median of 3.6 years prior. Family history, genetic test results and screening recommendations were abstracted from medical records. 182/266 (68.4%) women responded with 130 lost to follow-up. The proportions of women undertaking at least the recommended frequency of screening tests were: breast self examination (BSE) 50.4%, clinical breast examination (CBE) 66.0%, mammography 82.2%, transvaginal ultrasound (TVUS) 70.0%, CA125 84.0%. Factors associated with adherence to screening were: higher anxiety for BSE and CBE, being BRCA1/2 positive for CBE, older age, method of arrangement and having at least one affected first degree relative for mammography. Factors significantly associated with over-adherence were higher scores for anxiety for BSE and CBE and younger age (< 40 years) for TVUS. Between 41.3% (BSE) and 57.6% (CBE) of women incorrectly recalled their screening recommendations. A substantial minority of high-risk women do not adhere to screening advice. Strategies to improve the accuracy of recall of recommendations and the uptake of recommended screening are required.

Published
2006
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