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1. MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations

Author

Lubinski, Jan, Kotsopoulos, Joanne, Moller, Pal, Pal, Tuya, Eisen, Andrea, Peck, Larissa, Karlan, Beth Y, Aeilts, Amber, Eng, Charis, Bordeleau, Louise, Foulkes, William D, Tung, Nadine, Couch, Fergus J, Fruscio, Robert, Ramon y Cajal, Teresa, Singer, Christian F, Neuhausen, Susan L, Zakalik, Dana, Cybulski, Cezary, Gronwald, Jacek, Huzarski, Tomasz, Stempa, Klaudia, Dungan, Jeffrey, Cullinane, Carey, Olopade, Olufunmilayo I, Metcalfe, Kelly, Sun, Ping, Narod, Steven A, Sweet, Kevin, Senter, Leigha, Saal, Howard, Velsher, Lea, Armel, Susan, McCuaig, Jeanna, Panchal, Seema, Poll, Aletta, Lemire, Edmond, Serfas, Kim, Reilly, Robert, Costalas, Josephine, Cohen, Stephanie, and Blum, Joanne

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Clinical Research, Cancer, Prevention, Breast Cancer, 2.4 Surveillance and distribution, Aetiology, Good Health and Well Being, Female, Humans, Adult, Aged, Middle Aged, Breast Neoplasms, BRCA1 Protein, Genes, BRCA2, BRCA2 Protein, Mastectomy, Cohort Studies, Genes, BRCA1, Mutation, Risk Management, Magnetic Resonance Imaging, Hereditary Breast Cancer Clinical Study Group, Public Health and Health Services, Oncology and carcinogenesis
Abstract

ImportanceMagnetic resonance imaging (MRI) surveillance is offered to women with a pathogenic variant in the BRCA1 or BRCA2 gene who face a high lifetime risk of breast cancer. Surveillance with MRI is effective in downstaging breast cancers, but the association of MRI surveillance with mortality risk has not been well defined.ObjectiveTo compare breast cancer mortality rates in women with a BRCA1 or BRCA2 sequence variation who entered an MRI surveillance program with those who did not.Design, setting, and participantsWomen with a BRCA1 or BRCA2 sequence variation were identified from 59 participating centers in 11 countries. Participants completed a baseline questionnaire between 1995 and 2015 and a follow-up questionnaire every 2 years to document screening histories, incident cancers, and vital status. Women who had breast cancer, a screening MRI examination, or bilateral mastectomy prior to enrollment were excluded. Participants were followed up from age 30 years (or the date of the baseline questionnaire, whichever was later) until age 75 years, the last follow-up, or death from breast cancer. Data were analyzed from January 1 to July 31, 2023.ExposuresEntrance into an MRI surveillance program.Main outcomes and measuresCox proportional hazards modeling was used to estimate the hazard ratios (HRs) and 95% CIs for breast cancer mortality associated with MRI surveillance compared with no MRI surveillance using a time-dependent analysis.ResultsA total of 2488 women (mean [range] age at study entry 41.2 [30-69] years), with a sequence variation in the BRCA1 (n = 2004) or BRCA2 (n = 484) genes were included in the analysis. Of these participants, 1756 (70.6%) had at least 1 screening MRI examination and 732 women (29.4%) did not. After a mean follow-up of 9.2 years, 344 women (13.8%) developed breast cancer and 35 women (1.4%) died of breast cancer. The age-adjusted HRs for breast cancer mortality associated with entering an MRI surveillance program were 0.20 (95% CI, 0.10-0.43; P

Published
2024

4. Bilateral Oophorectomy and the Risk of Breast Cancer in BRCA1 Mutation Carriers: A Reappraisal.

Author

Kotsopoulos, Joanne, Lubinski, Jan, Gronwald, Jacek, Menkiszak, Janusz, McCuaig, Jeanna, Metcalfe, Kelly, Foulkes, William D, Neuhausen, Susan L, Sun, Sophie, Karlan, Beth Y, Eisen, Andrea, Tung, Nadine, Olopade, Olufunmilayo I, Couch, Fergus J, Huzarski, Tomasz, Senter, Leigha, Bordeleau, Louise, Singer, Christian F, Eng, Charis, Fruscio, Robert, Pal, Tuya, Sun, Ping, and Narod, Steven A

Subjects
Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Breast Cancer, Cancer, Rare Diseases, Aging, Prevention, Patient Safety, Ovarian Cancer, Clinical Research, Adult, BRCA1 Protein, Breast Neoplasms, Female, Humans, Mutation, Odds Ratio, Ovarian Neoplasms, Ovariectomy, Risk, Medical and Health Sciences, Epidemiology, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundThe lack of consensus on whether bilateral oophorectomy impacts risk of developing breast cancer among BRCA1 mutation carriers might be attributed to various biases, specifically, cancer-induced testing bias due to inclusion of prevalent cases. We conducted two complementary matched case-control analyses to evaluate the association of oophorectomy and BRCA1 breast cancer.MethodsA research questionnaire was administered every two years to collect information on exposures and disease. In the first analysis, we limited the study to prevalent breast cancer cases (diagnosed prior to study entry; n = 2,962) who were matched to controls on year of birth and country of residence (n = 4,358). In the second approach, we limited to 330 incident cases (diagnosed in the follow-up period) and 1,548 matched controls. Conditional logistic regression was used to estimate the adjusted odds ratios (OR) and 95% confidence intervals (CI) of invasive breast cancer.ResultsIn the first approach, there was a significant inverse association between oophorectomy and the risk of developing breast cancer [OR = 0.43; 95% confidence interval (CI), 0.34-0.55; P < 00001]. In the second approach, there was no association between oophorectomy and risk (OR = 1.21; 95% CI, 0.87-1.70; P = 0.26).ConclusionsThe inclusion of women with a personal history of breast cancer prior to ascertainment likely impacts upon the association of oophorectomy and BRCA1 breast cancer risk.ImpactOophorectomy is unlikely a determinant of breast cancer risk in BRCA1 mutation carriers but should be offered at age 35 to reduce the risk of ovarian and fallopian tube cancer.

Published
2022

5. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

Author

Li, Shuai, Silvestri, Valentina, Leslie, Goska, Rebbeck, Timothy R, Neuhausen, Susan L, Hopper, John L, Nielsen, Henriette Roed, Lee, Andrew, Yang, Xin, McGuffog, Lesley, Parsons, Michael T, Andrulis, Irene L, Arnold, Norbert, Belotti, Muriel, Borg, Åke, Buecher, Bruno, Buys, Saundra S, Caputo, Sandrine M, Chung, Wendy K, Colas, Chrystelle, Colonna, Sarah V, Cook, Jackie, Daly, Mary B, de la Hoya, Miguel, de Pauw, Antoine, Delhomelle, Hélène, Eason, Jacqueline, Engel, Christoph, Evans, D Gareth, Faust, Ulrike, Fehm, Tanja N, Fostira, Florentia, Fountzilas, George, Frone, Megan, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Gehrig, Andrea, Glendon, Gord, Goldgar, David E, Golmard, Lisa, Greene, Mark H, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hassan, Tiara, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Janavicius, Ramunas, Jiao, Yue, John, Esther M, Karlan, Beth Y, Kim, Sung-Won, Konstantopoulou, Irene, Kwong, Ava, Laugé, Anthony, Lee, Jong Won, Lesueur, Fabienne, Mebirouk, Noura, Meindl, Alfons, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Yie, Joanne Ngeow Yuen, Niederacher, Dieter, Park, Sue K, Pedersen, Inge Sokilde, Ramser, Juliane, Ramus, Susan J, Rantala, Johanna, Rashid, Muhammad U, Reichl, Florian, Ritter, Julia, Rump, Andreas, Santamariña, Marta, Saule, Claire, Schmidt, Gunnar, Schmutzler, Rita K, Senter, Leigha, Shariff, Saba, Singer, Christian F, Southey, Melissa C, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen, Teo, Soo Hwang, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E, Torres, Diana, Vega, Ana, Wagner, Sebastian A, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard HF, Yannoukakos, Drakoulis, Spurdle, Amanda B, Easton, Douglas F, and Chenevix-Trench, Georgia

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Prostate Cancer, Women's Health, Digestive Diseases, Breast Cancer, Ovarian Cancer, Pancreatic Cancer, Prevention, Cancer, Urologic Diseases, Rare Diseases, 2.1 Biological and endogenous factors, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Breast Neoplasms, Male, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Infant, Newborn, Male, Mutation, Ovarian Neoplasms, Pancreatic Neoplasms, Risk, Clinical Sciences, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

PurposeTo provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management.MethodsWe used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment.ResultsBRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers.ConclusionIn addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs.

Published
2022

6. eP160: Bilateral oophorectomy and the risk of breast cancer in women with a pathogenic variant in BRCA1: A reappraisal

Author

Kotsopoulos, joanne, Lubinski, Jan, Gronwald, Jacek, Menkiszak, Janusz, McCuaig, Jeanna, Metcalfe, Kelly, Foulkes, William, Neuhausen, Susan, Sun, Sophie, Karlan, Beth, Eisen, Andrea, Tung, Nadine, Olopade, Olufunmilayo, Couch, Fergus, Huzarski, Tomasz, Senter, Leigha, Bordeleau, Louise, Singer, Christian, Eng, Charis, Fruscio, Robert, Pal, Tuya, Sun, Ping, and Narod, Steven

Subjects
Biological Sciences, Genetics, Clinical Sciences, Genetics & Heredity
Published
2022

7. Contraceptive use and the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation

Author

Xia, Yue Yin, Gronwald, Jacek, Karlan, Beth, Lubinski, Jan, McCuaig, Jeanna M, Brooks, Jennifer, Moller, Pal, Eisen, Andrea, Sun, Sophie, Senter, Leigha, Bordeleau, Louise, Neuhausen, Susan L, Singer, Christian F, Tung, Nadine, Foulkes, William D, Sun, Ping, Narod, Steven A, Kotsopoulos, Joanne, Yerushalmi, Rinat, Fruscio, Robert, Rastelli, Antonella, Zovato, Stefania, Hyder, Zerin, Huzarski, Tomasz, Cybulski, Cezary, Sweet, Kevin, Wood, Marie, McKinnon, Wendy, Elser, Christine, Pal, Tuya, Wiesner, Georgia, Friedman, Eitan, Meschino, Wendy, Snyder, Carrie, Metcalfe, Kelly, Poll, Aletta, Gojska, Nicole, Warner, Ellen, Kim, Raymond H, Rosen, Barry, Demsky, Rochelle, Ainsworth, Peter, Panabaker, Karen, Steele, Linda, Saal, Howard, Serfas, Kim, Panchal, Seema, Cullinane, Carey A, Reilly, Robert E, Blum, Joanne L, Kwong, Ava, Rayson, Daniel, Isaacs, Claudine, Ramón y Cajal, Teresa, Dungan, Jeffrey, and Cohen, Stephanie

Subjects
Reproductive Medicine, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Rare Diseases, Breast Cancer, Clinical Research, Prevention, Contraception/Reproduction, Cancer, Ovarian Cancer, 2.2 Factors relating to the physical environment, Aetiology, Reproductive health and childbirth, Good Health and Well Being, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Carcinoma, Ovarian Epithelial, Case-Control Studies, Contraceptives, Oral, Female, Heterozygote, Humans, Mutation, Ovarian Neoplasms, Risk Factors, BRCA, Ovarian cancer, Contraception, Intrauterine device, Case-control, Hereditary Ovarian Cancer Clinical Study Group, Paediatrics and Reproductive Medicine, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis, Reproductive medicine
Abstract

Background BRCA1 and BRCA2 (BRCA) mutation carriers face a high lifetime risk of developing ovarian cancer. Oral contraceptives are protective in this population; however, the impact of other types of contraception (e.g. intrauterine devices, implants, injections) is unknown. We undertook a matched case-control study to evaluate the relationship between type of contraception and risk of ovarian cancer among women with BRCA mutations. Methods A total of 1733 matched pairs were included in this analysis. Women were matched according to year of birth, date of study entry, country of residence, BRCA mutation type and history of breast cancer. Detailed information on hormonal, reproductive and lifestyle exposures were collected from a routinely administered questionnaire. Conditional logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI) associated with each contraceptive exposure. Results Ever use of any contraceptive was significantly associated with reduced risk of ovarian cancer (OR = 0.62; 95% CI 0.52-0.75; P

Published
2022

8. The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations

Author

Narod, Steven A., Metcalfe, Kelly, Finch, Amy, Chan, An-Wen, Armel, Susan Randall, Aeilts, Amber, Eisen, Andrea, Karlan, Beth, Bordeleau, Louise, Tung, Nadine, Foulkes, William D., Neuhausen, Susan L., Eng, Charis, Olopade, Olufunmilayo, Zakalik, Dana, Couch, Fergus, Cullinane, Carey, Pal, Tuya, Sun, Ping, Kotsopoulos, Joanne, Poll, Aletta, Kim, Raymond, Fruscio, Robert, Lemire, Edmond, Serfas, Kim, Sweet, Kevin, Senter, Leigha, Panchal, Seema, Elser, Christine, Blum, Joanne L., Rayson, Daniel, Isaacs, Claudine, Dungan, Jeffrey, and Cohen, Stephanie

Subjects
Oncology, Experimental -- Genetic aspects, Women -- Research, Skin cancer -- Research -- Genetic aspects -- Risk factors, Cancer -- Diagnosis -- Genetic aspects -- Research, Skin -- Care and treatment, BRCA mutations -- Research -- Genetic aspects -- Risk factors, Health
Abstract

Background It has not been clearly established if skin cancer or melanoma are manifestations of BRCA1 or BRCA2 mutation carrier status. Estimating the risk of skin cancer is an important step towards developing screening recommendations. Methods We report the findings of a prospective cohort study of 6,207 women from North America who carry BRCA1 or BRCA2 mutations. Women were followed from the date of baseline questionnaire to the diagnosis of skin cancer, to age 80 years, death from any cause, or the date of last follow-up. Results During the mean follow-up period of eight years, 3.7% of women with a BRCA1 mutation (133 of 3,623) and 3.8% of women with a BRCA2 mutation (99 of 2,584) reported a diagnosis of skin cancer (including both keratinocyte carcinomas and melanoma). The cumulative risk of all types of skin cancer from age 20 to 80 years was 14.1% for BRCA1 carriers and 10.7% for BRCA2 carriers. The cumulative risk of melanoma was 2.5% for BRCA1 carriers and 2.3% for BRCA2 carriers, compared to 1.5% for women in the general population in the United States. The strongest risk factor for skin cancer was a prior diagnosis of skin cancer. Conclusion The risk of non-melanoma skin cancer in women who carry a mutation in BRCA1 or BRCA2 is similar to that of non-carrier women. The risk of melanoma appears to be slightly elevated. We suggest that a referral to a dermatologist or primary care provider for BRCA mutation carriers for annual skin examination and counselling regarding limiting UV exposure, the use of sunscreen and recognizing the early signs of melanoma might be warranted, but further studies are necessary. Keywords: Skin cancer, Basal cell carcinoma, Melanoma, BRCA1, BRCA2, Author(s): Steven A. Narod[sup.1,2], Kelly Metcalfe[sup.1,3], Amy Finch[sup.1], An-Wen Chan[sup.1,4], Susan Randall Armel[sup.5,6], Amber Aeilts[sup.7], Andrea Eisen[sup.8], Beth Karlan[sup.9], Louise Bordeleau[sup.10], Nadine Tung[sup.11], William D. Foulkes[sup.12], Susan L. Neuhausen[sup.13], Charis [...]

Published
2024
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9. Does the choice of platinum doublet matter? A study to evaluate the impact of platinum doublet choice for treatment of platinum-sensitive ovarian cancer recurrence on the development of future PARP inhibitor and platinum resistance.

Author

Levine, Monica D., Wang, Heather, Sriram, Bhargavi, Khan, Ambar, Senter, Leigha, McLaughlin, Eric M., Bixel, Kristin L., Chambers, Laura M., Cohn, David E., Copeland, Larry J., Cosgrove, Casey M., Nagel, Christa I., O'Malley, David M., and Backes, Floor J.

Published
2024
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10. Weight Gain and the Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers

Author

Kim, Shana J, Lubiński, Jan, Huzarski, Tomasz, Møller, Pål, Armel, Susan, Karlan, Beth Y, Senter, Leigha, Eisen, Andrea, Foulkes, William D, Singer, Christian F, Tung, Nadine, Bordeleau, Louise, Neuhausen, Susan L, Olopade, Olufunmilayo I, Eng, Charis, Weitzel, Jeffrey N, Fruscio, Robert, Narod, Steven A, and Kotsopoulos, Joanne

Subjects
Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Prevention, Cancer, Clinical Research, Obesity, Rare Diseases, Nutrition, Genetics, Ovarian Cancer, Breast Cancer, Adult, BRCA1 Protein, BRCA2 Protein, Body Mass Index, Carcinoma, Ovarian Epithelial, Female, Genetic Predisposition to Disease, Humans, Mutation, Ovarian Neoplasms, Proportional Hazards Models, Prospective Studies, Risk Factors, Weight Gain, Hereditary Ovarian Cancer Clinical Study Group, Medical and Health Sciences, Epidemiology, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundWeight gain and other anthropometric measures on the risk of ovarian cancer for women with BRCA mutations are not known. We conducted a prospective analysis of weight change since age 18, height, body mass index (BMI) at age 18, and current BMI and the risk of developing ovarian cancer among BRCA1 and BRCA2 mutation carriers.MethodsIn this prospective cohort study, height, weight, and weight at age 18 were collected at study enrollment. Weight was updated biennially. Cox proportional hazards models were used to estimate the hazard ratio (HR) and 95% confidence intervals (CI) for ovarian cancer.ResultsThis study followed 4,340 women prospectively. There were 121 incident cases of ovarian cancer. Weight gain of more than 20 kg since age 18 was associated with a 2-fold increased risk of ovarian cancer, compared with women who maintained a stable weight (HR, 2.00; 95% CI, 1.13-3.54; P = 0.02). Current BMI of 26.5 kg/m2 or greater was associated with an increased risk of ovarian cancer in BRCA1 mutation carriers, compared with those with a BMI less than 20.8 kg/m2 (Q4 vs. Q1 HR, 2.13; 95% CI, 1.04-4.36; P = 0.04). There were no significant associations between height or BMI at age 18 and risk of ovarian cancer.ConclusionsAdult weight gain is a risk factor for ovarian cancer in women with a BRCA1 or BRCA2 mutation.ImpactThese findings emphasize the importance of maintaining a healthy body weight throughout adulthood in women at high risk for ovarian cancer.

Published
2021

12. Factors associated with use of hormone therapy after preventive oophorectomy in BRCA mutation carriers.

Author

Mejia-Gomez, Javier, Gronwald, Jacek, Senter, Leigha, Karlan, Beth Y, Tung, Nadine, Wolfman, Wendy, Demsky, Rochelle, Sun, Ping, Narod, Steven A, and Kotsopoulos, Joanne

Subjects
Biomedical and Clinical Sciences, Health Services and Systems, Health Sciences, Clinical Sciences, Oncology and Carcinogenesis, Clinical Research, Cancer, Ovarian Cancer, Contraception/Reproduction, Patient Safety, Estrogen, Aging, Rare Diseases, Prevention, Breast Cancer, Adult, Breast Neoplasms, Female, Genetic Predisposition to Disease, Hormones, Humans, Longitudinal Studies, Mastectomy, Middle Aged, Mutation, Ovarian Neoplasms, Ovariectomy, Breast cancer, Combined hormone, Mammogram, Menopause, Natural progesterone, Vasomotor symptoms, and the Hereditary Breast Cancer Clinical Study Group, Medical and Health Sciences, Obstetrics & Reproductive Medicine, Biomedical and clinical sciences, Health sciences, Psychology
Abstract

ObjectiveBilateral salpingo-oophorectomy (oophorectomy) is recommended to women with a germline BRCA1 or BRCA2 mutation before natural menopause to prevent ovarian and fallopian tube cancer. The adverse effects of early surgical menopause are well established. Although many of the side effects can be ameliorated by the use of hormone therapy (HT); use of HT in this group of predominantly young patients remains suboptimal. The goal of this study was to identify the frequency of HT use, as well as predictors of HT uptake in BRCA mutation carriers who underwent preventive oophorectomy before natural menopause.MethodsEligible participants were identified from a longitudinal study of BRCA mutation carriers. We included premenopausal women with no personal history of cancer who underwent oophorectomy before age 50 and who had a minimum of 2 years of follow-up. Detailed information on HT use and other important variables was collected by a research questionnaire every 2 years. Descriptive statistics were used to evaluate the use of HT in various subgroups.ResultsA total of 793 women with a BRCA1 or BRCA2 mutation were included in this analysis. The mean age at oophorectomy was 42 years (range 28-49). Sixty-one percent of the women reported using HT after oophorectomy. Factors associated with HT use included young age at surgery, a high level of education and preventive mastectomy.ConclusionsThe uptake of HT after oophorectomy in women with a BRCA1 or BRCA2 mutation varies by age, education, and surgical history. Clinician and patient awareness may lead to better utilization of HT in women who undergo oophorectomy at an early age to help mitigate the adverse effects associated with surgical menopause.

Published
2020

13. Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation

Author

Kotsopoulos, Joanne, Gronwald, Jacek, McCuaig, Jeanna M, Karlan, Beth Y, Eisen, Andrea, Tung, Nadine, Bordeleau, Louise, Senter, Leigha, Eng, Charis, Couch, Fergus, Fruscio, Robert, Weitzel, Jeffrey N, Olopade, Olufunmilayo, Singer, Christian F, Pal, Tuya, Foulkes, William D, Neuhausen, Susan L, Sun, Ping, Lubinski, Jan, Narod, Steven A, and Group, Ovarian Cancer Clinical Study

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Rare Diseases, Ovarian Cancer, Prevention, Cancer, Breast Cancer, Genetics, Adult, Aged, Aged, 80 and over, BRCA1 Protein, BRCA2 Protein, Breast Feeding, Carcinoma, Ovarian Epithelial, Case-Control Studies, Contraceptives, Oral, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Longitudinal Studies, Middle Aged, Mutation, Odds Ratio, Ovarian Neoplasms, Protective Factors, Breastfeeding, Ovarian cancer, BRCA1, BRCA2, Hereditary Ovarian Cancer Clinical Study Group, Paediatrics and Reproductive Medicine, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis, Reproductive medicine
Abstract

ObjectiveBRCA mutation carriers face a high lifetime risk of developing ovarian cancer. The strong inverse association between breastfeeding and the risk of ovarian cancer is established in the general population but is less well studied among women with a germline BRCA1 or BRCA2 mutation.MethodThus, we conducted a matched case-control analysis to evaluate the association between breastfeeding history and the risk of developing ovarian cancer. After matching for year of birth, country of residence, BRCA gene and personal history of breast cancer, a total of 1650 cases and 2702 controls were included in the analysis. Conditional logistic regression was used to estimate the odds ratio (OR) and 95% confidence intervals (CI) associated with various breastfeeding exposures.ResultsA history of ever-breastfeeding was associated with a 23% reduction in risk (OR = 0.77; 95%CI 0.66-0.90; P = 0.001). The protective effect increased with breastfeeding from one month to seven months after which the association was relatively stable. Compared to women who never breastfed, breastfeeding for seven or more months was associated with a 32% reduction in risk (OR = 0.68; 95%CI 0.57-0.81; P

Published
2020

16. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Author

Møller, Pål, Seppälä, Toni, Dowty, James G., Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J., Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G., Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., Ricciardiello, Luigi, Kohonen-Corish, Maija R. J., Ligtenberg, Marjolijn J. L., Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N., Samadder, N. Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J., James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Dębniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L., Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., ten Broeke, Sanne W., Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueñas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J., Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., and Jenkins, Mark A.

Published
2022
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17. A video intervention to improve patient understanding of tumor genomic testing in patients with cancer.

Author

Veney, Deloris J., Wei, Lai Y., Toland, Amanda E., Presley, Carolyn J., Hampel, Heather L., Padamsee, Tasleem J., Lee, Clara N., Irvin, William J., Bishop, Michael J., Kim, James J., Hovick, Shelly R., Senter, Leigha A., and Stover, Daniel G.

Subjects
PATIENT education, CANCER education, TUMOR markers, METASTASIS, CANCER patients
Abstract

Introduction: Tumor genomic testing (TGT) is standard‐of‐care for most patients with advanced/metastatic cancer. Despite established guidelines, patient education prior to TGT is frequently omitted. The purpose of this study was to evaluate the impact of a concise 4 min video for patient education prior to TGT. Methods: Based on a quality improvement cycle, an animated video was created to be applicable to any cancer type, incorporating culturally diverse images, available in English and Spanish. Patients undergoing standard‐of‐care TGT were enrolled at a tertiary academic institution and completed survey instruments prior to video viewing (T1) and immediately post‐viewing (T2). Instruments included: (1) 10‐question objective genomic knowledge; (2) 10‐question video message‐specific knowledge; (3) 11‐question Trust in Provider; (4) attitudes regarding TGT. Results: A total of 150 participants were enrolled. For the primary objective, there was a significant increase in video message‐specific knowledge (median 10 point increase; p < 0.0001) with no significant change in genomic knowledge/understanding (p = 0.89) or trust in physician/provider (p = 0.59). Results for five questions significantly improved, including the likelihood of TGT impact on treatment decision, incidental germline findings, and cost of testing. Improvement in video message‐specific knowledge was consistent across demographic groups, including age, income, and education. Conclusions: A concise, 3–4 min, broadly applicable video incorporating culturally diverse images administered prior to TGT significantly improved video message‐specific knowledge across all demographic groups. This resource is publicly available at http://www.tumor‐testing.com, with a goal to efficiently educate and empower patients regarding TGT while addressing guidelines within the flow of clinical practice. [ABSTRACT FROM AUTHOR]

Published
2024
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18. Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers

Author

Kotsopoulos, Joanne, Gronwald, Jacek, Karlan, Beth Y, Huzarski, Tomasz, Tung, Nadine, Moller, Pal, Armel, Susan, Lynch, Henry T, Senter, Leigha, Eisen, Andrea, Singer, Christian F, Foulkes, William D, Jacobson, Michelle R, Sun, Ping, Lubinski, Jan, and Narod, Steven A

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Aging, Ovarian Cancer, Prevention, Breast Cancer, Patient Safety, Clinical Research, Rare Diseases, Cancer, Estrogen, 2.2 Factors relating to the physical environment, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Aetiology, Adult, BRCA1 Protein, Breast Neoplasms, Canada, Female, Follow-Up Studies, Genetic Predisposition to Disease, Hormone Replacement Therapy, Humans, Incidence, Longitudinal Studies, Middle Aged, Mutation, Ovarian Neoplasms, Ovariectomy, Prognosis, Prospective Studies, Hereditary Breast Cancer Clinical Study Group, Public Health and Health Services, Oncology and carcinogenesis
Abstract

ImportanceProphylactic bilateral salpingo-oophorectomy is recommended for BRCA1 mutation carriers to prevent ovarian cancer. Whether or not hormone replacement therapy (HRT) initiated after oophorectomy is associated with an increased risk of breast cancer has not been evaluated in a prospective study.ObjectiveTo determine the association between HRT use and BRCA1-associated breast cancer.Design, setting, and participantsA prospective, longitudinal cohort study of BRCA1 and BRCA2 mutation carriers from 80 participating centers in 17 countries was conducted between 1995 and 2017 with a mean follow-up of 7.6 years. Participants had sought genetic testing for a BRCA1 or BRCA2 mutation because of a personal or family history of breast and/or ovarian cancer. Carriers of BRCA1 mutation with no personal medical history of cancer who underwent bilateral oophorectomy following enrollment were eligible for the cohort study.ExposuresA follow-up questionnaire was administered every 2 years to obtain detailed information on HRT use. A left-truncated Cox proportional hazard analysis was used to estimate the hazard ratios (HRs) and 95% CIs associated with the initiation of HRT use postoophorectomy.Main outcomes and measuresIncident breast cancer.ResultsA total of 872 BRCA1 mutation carriers with a mean postoophorectomy follow-up period of 7.6 years (range, 0.4-22.1) were included in this study. Mean (SD) age of participants was 43.4 (8.5) years. Among these, 92 (10.6%) incident breast cancers were diagnosed. Overall, HRT use after oophorectomy was not associated with an increased risk of breast cancer. The HR was 0.97 (95% CI, 0.62-1.52; P = .89) for ever use of any type of HRT vs no use; however, the effects of estrogen alone and combination hormonal therapy were different. After 10 years of follow-up, the cumulative incidence of breast cancer among women who used estrogen-alone HRT was 12% compared with 22% among women who used estrogen plus progesterone HRT (absolute difference, 10%; log rank P = .04).Conclusions and relevanceThese findings suggest that use of estrogen after oophorectomy does not increase the risk of breast cancer among women with a BRCA1 mutation and should reassure BRCA1 mutation carriers considering preventive surgery that HRT is safe. The possible adverse effect of progesterone-containing HRT warrants further study.

Published
2018

19. Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers.

Author

Kim, Shana J, Huzarski, Tomasz, Gronwald, Jacek, Singer, Christian F, Møller, Pål, Lynch, Henry T, Armel, Susan, Karlan, Beth Y, Foulkes, William D, Neuhausen, Susan L, Senter, Leigha, Eisen, Andrea, Eng, Charis, Panchal, Seema, Pal, Tuya, Olopade, Olufunmilayo, Zakalik, Dana, Lubinski, Jan, Narod, Steven A, Kotsopoulos, Joanne, Ainsworth, Peter, Bordeleau, Louise, Tung, Nadine, Friedman, Eitan, Meschino, Wendy, Snyder, Carrie, Metcalfe, Kelly, Warner, Ellen, Rosen, Barry, Demsky, Rochelle, Weitzel, Jeffrey N, Panabaker, Karen, Couch, Fergus, Manoukian, Siranoush, Pasini, Barbara, Daly, Mary B, Steele, Linda, Saal, Howard, Fallen, Taya, Wood, Marie, McKinnon, Wendy, Lemire, Edmond, Chudley, Albert E, Serfas, Kim, Elser, Christine, Vadaparampil, Susan T, Ginsburg, Ophira, Cullinane, Carey A, Blum, Joanne L, Ross, Theodora, Mauer, Caitlin, Kwong, Ava, Cybulski, Cezary, McCuaig, Jeanna, Rayson, Daniel, and Isaacs, Claudine

Subjects
Cancer, Aging, Nutrition, Prevention, Breast Cancer, Obesity, Clinical Research, Aetiology, 2.2 Factors relating to the physical environment, BMI, body size, breast cancer, BRCA, hereditary cancer, Hereditary Breast Cancer Clinical Study Group, Statistics, Public Health and Health Services, Epidemiology
Abstract

BACKGROUND:Although evidence suggests that larger body size in early life confers lifelong protection from developing breast cancer, few studies have investigated the relationship between body size and breast cancer risk among BRCA mutation carriers. Therefore, we conducted a prospective evaluation of body size and the risk of breast cancer among BRCA mutation carriers. METHODS:Current height and body mass index (BMI) at age 18 were determined from baseline questionnaires. Current BMI and weight change since age 18 were calculated from updated biennial follow-up questionnaires. Cox proportional hazards models were used to estimate the hazard ratio (HR) and 95% confidence interval (CI). RESULTS:Among 3734 BRCA mutation carriers, there were 338 incident breast cancers over a mean follow-up of 5.5 years. There was no association between height, current BMI or weight change and breast cancer risk. Women with BMI at age 18 ≥22.1 kg/m2 had a decreased risk of developing post-menopausal breast cancer compared with women with a BMI at age 18 between 18.8 and 20.3 kg/m2 (HR 0.49; 95% CI 0.30-0.82; P = 0.006). BMI at age 18 was not associated with risk of pre-menopausal breast cancer. CONCLUSIONS:There was no observed association between height, current BMI and weight change and risk of breast cancer. The inverse relationship between greater BMI at age 18 and post-menopausal breast cancer further supports a role of early rather than current or adulthood exposures for BRCA-associated breast cancer development. Future studies with longer follow-up and additional measures of adiposity are necessary to confirm these findings.

Published
2018

20. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Author

Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa-ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, Falcón de Vargas, Aída, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V.O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A.W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, and Jenkins, Mark A.

Published
2021
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21. BRCA mutation in ovarian cancer: testing, implications and treatment considerations

Author

Neff, Robert T, Senter, Leigha, and Salani, Ritu

Subjects
Rare Diseases, Cancer, Human Genome, Genetics, Ovarian Cancer, Genetic Testing, Biotechnology, Orphan Drug, Good Health and Well Being, BRCA, mutations, ovarian cancer, PARP inhibitor
Abstract

Ovarian cancer is a heterogeneous disease that encompasses a number of different cellular subtypes, the most common of which is high-grade serous ovarian cancer (HGSOC). Still today, ovarian cancer is primarily treated with chemotherapy and surgery. Recent advances in the hereditary understanding of this disease have shown a significant role for the BRCA gene. While only a minority of patients with HGSOC will have a germline BRCA mutation, many others may have tumor genetic aberrations within BRCA or other homologous recombination proteins. Genetic screening for these BRCA mutations has allowed improved preventative measures and therapeutic development. This review focuses on the understanding of BRCA mutations and their relationship with ovarian cancer development, as well as future therapeutic targets.

Published
2017

22. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author

Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna Marie, Neuhausen, Susan L, Fox, Stephen, Karlan, Beth Y, Mitchell, Gillian, James, Paul, Thull, Darcy L, Zorn, Kristin K, Carter, Natalie J, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy R, Ramus, Susan J, Nussbaum, Robert L, Olopade, Olufunmilayo I, Rantala, Johanna, Yoon, Sook-Yee, Caligo, Maria A, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge Sokilde, Thomassen, Mads, Jensen, Uffe Birk, Toland, Amanda Ewart, Senter, Leigha, Andrulis, Irene L, Glendon, Gord, Hulick, Peter J, Imyanitov, Evgeny N, Greene, Mark H, Mai, Phuong L, Singer, Christian F, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus J, Hallberg, Emily, Ruddy, Kathryn J, Sharma, Priyanka, Kim, Sung-Won, kConFab Investigators, Teixeira, Manuel R, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Arason, Adalgeir, Johannsson, Oskar Th, Barkardottir, Rosa B, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel Angel, Balmaña, Judith, Diez, Orland, Ivady, Gabriella, Papp, Janos, Olah, Edith, Kwong, Ava, Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Nevanlinna, Heli, Aittomäki, Kristiina, Perez Segura, Pedro, Caldes, Trinidad, Van Maerken, Tom, Poppe, Bruce, Claes, Kathleen BM, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Varon-Mateeva, Raymonda, Wand, Dorothea, Godwin, Andrew K, Evans, D Gareth, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, and Platte, Radka

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Breast Cancer, Cancer, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Breast Neoplasms, Male, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Neoplasm Staging, Polymorphism, Single Nucleotide, Male breast cancer, BRCA1/2, Pathology, Histologic grade, Genotype-phenotype correlations, kConFab Investigators, Hereditary Breast and Ovarian Cancer Research Group Netherlands, EMBRACE, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundBRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs).MethodsWe characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1/2 FBCs and with population-based data from 6351 MBCs in the Surveillance, Epidemiology, and End Results (SEER) database.ResultsAmong BRCA2 MBCs, grade significantly decreased with increasing age at diagnosis (P = 0.005). Compared with BRCA2 FBCs, BRCA2 MBCs were of significantly higher stage (P for trend = 2 × 10(-5)) and higher grade (P for trend = 0.005) and were more likely to be oestrogen receptor-positive [odds ratio (OR) 10.59; 95 % confidence interval (CI) 5.15-21.80] and progesterone receptor-positive (OR 5.04; 95 % CI 3.17-8.04). With the exception of grade, similar patterns of associations emerged when we compared BRCA1 MBCs and FBCs. BRCA2 MBCs also presented with higher grade than MBCs from the SEER database (P for trend = 4 × 10(-12)).ConclusionsOn the basis of the largest series analysed to date, our results show that BRCA1/2 MBCs display distinct pathologic characteristics compared with BRCA1/2 FBCs, and we identified a specific BRCA2-associated MBC phenotype characterised by a variable suggesting greater biological aggressiveness (i.e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management.

Published
2016

25. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Author

Barnes, Daniel R., Rookus, Matti A., McGuffog, Lesley, Leslie, Goska, Mooij, Thea M., Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomäki, Kristiina, Andrieu, Nadine, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Białkowska, Katarzyna, Blanco, Amie M., Blok, Marinus J., Bonanni, Bernardo, Boonen, Susanne E., Borg, Åke, Bozsik, Aniko, Bradbury, Angela R., Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K., Claes, Kathleen B.M., Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Delnatte, Capucine, Faivre, Laurence, Giraud, Sophie, Lasset, Christine, Mari, Véronique, Mebirouk, Noura, Mouret-Fourme, Emmanuelle, Schuster, Hélène, Stoppa-Lyonnet, Dominique, Antoniou, Antonis, Cook, Jackie, Davidson, Rosemarie, Easton, Douglas, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Hanson, Helen, Izatt, Louise, Ong, Kai-ren, Side, Lucy, O’Shaughnessy-Kirwan, Aoife, Tischkowitz, Marc, Walker, Lisa, Daly, Mary B., de la Hoya, Miguel, de Putter, Robin, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Ejlertsen, Bent, Engel, Christoph, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hentschel, Julia, Hogervorst, Frans B.L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Chenevix-Trench, Georgia, Phillips, Kelly-Anne, Spurdle, Amanda, Blok, Marinus, Hogervorst, Frans, Hooning, Maartje, Koudijs, Marco, Mensenkamp, Arjen, Meijers-Heijboer, Hanne, Rookus, Matti, Engelen, Klaartje van, Noguès, Catherine, Isaacs, Claudine, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Meijers-Heijboer, Hanne E.J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Rønlund, Karina, Salani, Ritu, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steinemann, Doris, Steinsnyder, Zoe, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., and Antoniou, Antonis C.

Published
2020
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28. A Video Intervention to Improve Patient Understanding of Tumor Genomic Testing in Patients with Cancer

Author

Veney, Deloris, primary, Wei, Lai, additional, Toland, Amanda E., additional, Presley, Carolyn J., additional, Hampel, Heather, additional, Padamsee, Tasleem J., additional, Lee, Clara N., additional, Irvin, William J., additional, Bishop, Michael, additional, Kim, James, additional, Hovick, Shelly R., additional, Senter, Leigha, additional, and Stover, Daniel G., additional

Published
2023
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29. Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer

Author

Zhou, Wei, Brumpton, Ben, Kabil, Omer, Gudmundsson, Julius, Thorleifsson, Gudmar, Weinstock, Josh, Zawistowski, Matthew, Nielsen, Jonas B., Chaker, Layal, Medici, Marco, Teumer, Alexander, Naitza, Silvia, Sanna, Serena, Schultheiss, Ulla T., Cappola, Anne, Karjalainen, Juha, Kurki, Mitja, Oneka, Morgan, Taylor, Peter, Fritsche, Lars G., Graham, Sarah E., Wolford, Brooke N., Overton, William, Rasheed, Humaira, Haug, Eirin B., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Surakka, Ida, Davey Smith, George, Pandit, Anita, Roychowdhury, Tanmoy, Hornsby, Whitney E., Jonasson, Jon G., Senter, Leigha, Liyanarachchi, Sandya, Ringel, Matthew D., Xu, Li, Kiemeney, Lambertus A., He, Huiling, Netea-Maier, Romana T., Mayordomo, Jose I., Plantinga, Theo S., Hrafnkelsson, Jon, Hjartarson, Hannes, Sturgis, Erich M., Palotie, Aarno, Daly, Mark, Citterio, Cintia E., Arvan, Peter, Brummett, Chad M., Boehnke, Michael, de la Chapelle, Albert, Stefansson, Kari, Hveem, Kristian, Willer, Cristen J., and Åsvold, Bjørn Olav

Published
2021
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30. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Author

Maller, Pål, Seppälä, Toni, Dowty, James G., Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J., Hampel, Heather, Williams, Heinric, Okkels, Henrik, LubiÅski, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G., Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., Ricciardiello, Luigi, Kohonen-Corish, Maija R. J., Ligtenberg, Marjolijn J. L., Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N., Samadder, N. Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J., James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, DÄbniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L., Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., ten Broeke, Sanne W., Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueéas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J., Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., and Jenkins, Mark A.

Subjects
EPUB (Standard) -- Comparative analysis, Colonoscopy -- Comparative analysis, Colorectal cancer -- Comparative analysis, Health
Abstract

Objective To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants. Methods CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. Comparison was made with a retrospective cohort reported by the International Mismatch Repair Consortium (IMRC). This comprised confirmed and inferred path_MMR carriers who were first- or second-degree relatives of Lynch syndrome probands. Results In the PLSD, 8,153 subjects had follow-up colonoscopy surveillance for a total of 67,604 years and 578 carriers had CRC diagnosed. Average cumulative incidences of CRC in path_MLH1 carriers at 70 years of age were 52% in males and 41% in females; for path_MSH2 50% and 39%; for path_MSH6 13% and 17% and for path_PMS2 11% and 8%. In contrast, in the IMRC cohort, corresponding cumulative incidences were 40% and 27%; 34% and 23%; 16% and 8% and 7% and 6%. Comparing just the European carriers in the two series gave similar findings. Numbers in the PLSD series did not allow comparisons of carriers from other continents separately. Cumulative incidences at 25 years were < 1% in all retrospective groups. Conclusions Prospectively observed CRC incidences (PLSD) in path_MLH1 and path_MSH2 carriers undergoing colonoscopy surveillance and polypectomy were higher than in the retrospective (IMRC) series, and were not reduced in path_MSH6 carriers. These findings were the opposite to those expected. CRC point incidence before 50 years of age was reduced in path_PMS2 carriers subjected to colonoscopy, but not significantly so. Keywords: Lynch Syndrome, Epidemiology, Prevention, Penetrance, Colorectal cancer, Segregation analysis, Prospective, Incidence, Over-diagnosis, Colonoscopy, Author(s): Pål Maller[sup.1], Toni Seppälä[sup.2,3,4], James G. Dowty[sup.5], Saskia Haupt[sup.6,7], Mev Dominguez-Valentin[sup.1], Lone Sunde[sup.8,9], Inge Bernstein[sup.10,11], Christoph Engel[sup.12], Stefan Aretz[sup.13], Maartje Nielsen[sup.14], Gabriel Capella[sup.15], Dafydd Gareth Evans[sup.16], John Burn[sup.17], Elke [...]

Published
2022
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31. Somatic MED12 mutations are associated with poor prognosis markers in chronic lymphocytic leukemia

Author

Kämpjärvi, Kati, Järvinen, Tiina M, Heikkinen, Tuomas, Ruppert, Amy S, Senter, Leigha, Hoag, Kevin W, Dufva, Olli, Kontro, Mika, Rassenti, Laura, Hertlein, Erin, Kipps, Thomas J, Porkka, Kimmo, Byrd, John C, de la Chapelle, Albert, and Vahteristo, Pia

Subjects
Genetics, Cancer, Rare Diseases, Lymphoma, Hematology, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Female, Humans, Leukemia, Lymphocytic, Chronic, B-Cell, Mediator Complex, Middle Aged, Molecular Sequence Data, Mutation, Prognosis, Chronic lymphocytic leukemia, MED12, somatic mutation, cancer genetics, prognosis, Oncology and Carcinogenesis
Abstract

Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults. We performed systematic database search and identified highly specific MED12 mutations in CLL patients. To study this further, we collected three independent sample series comprising over 700 CLL samples and screened MED12 exons 1 and 2 by direct sequencing. Mutations were identified at significant frequency in all three series with a combined mutation frequency of 5.2% (37/709). Positive mutation status was found to be associated with unmutated IGHV and ZAP70 expression, which are well-known poor prognosis markers in CLL. Our results recognize CLL as the first extrauterine cancer type where 5'terminus of MED12 is mutated at significant frequency. Functional analyses have shown that these mutations lead to dissociation of Cyclin C-CDK8/19 from the core Mediator and to the loss of Mediator-associated CDK kinase activity. Additional studies on the role of MED12 mutation status as a putative prognostic factor as well as mutations' exact tumorigenic mechanism in CLL are warranted.

Published
2015

32. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

Author

Suerink, Manon, Rodríguez-Girondo, Mar, van der Klift, Heleen M., Colas, Chrystelle, Brugieres, Laurence, Lavoine, Noémie, Jongmans, Marjolijn, Munar, Gabriel Capellá, Evans, D. Gareth, Farrell, Michael P., Genuardi, Maurizio, Goldberg, Yael, Gomez-Garcia, Encarna, Heinimann, Karl, Hoell, Jessica I., Aretz, Stefan, Jasperson, Kory W., Kedar, Inbal, Modi, Mitul B., Nikolaev, Sergey, van Os, Theo A. M., Ripperger, Tim, Rueda, Daniel, Senter, Leigha, Sjursen, Wenche, Sunde, Lone, Therkildsen, Christina, Tibiletti, Maria G., Trainer, Alison H., Vos, Yvonne J., Wagner, Anja, Winship, Ingrid, Wimmer, Katharina, Zimmermann, Stefanie Y., Vasen, Hans F., van Asperen, Christi J., Houwing-Duistermaat, Jeanine J., ten Broeke, Sanne W., and Nielsen, Maartje

Published
2019
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34. Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers

Author

Kotsopoulos, Joanne, Lubinski, Jan, Lynch, Henry T., Tung, Nadine, Armel, Susan, Senter, Leigha, Singer, Christian F., Fruscio, Robert, Couch, Fergus, Weitzel, Jeffrey N., Karlan, Beth, Foulkes, William D., Moller, Pal, Eisen, Andrea, Ainsworth, Peter, Neuhausen, Susan L., Olopade, Olufunmilayo, Sun, Ping, Gronwald, Jacek, Narod, Steven A., and the Hereditary Breast Cancer Clinical Study Group

Published
2019
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36. GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

Author

Zhou, Wei, Brumpton, Ben, Kabil, Omer, Gudmundsson, Julius, Thorleifsson, Gudmar, Weinstock, Josh, Zawistowski, Matthew, Nielsen, Jonas B., Chaker, Layal, Medici, Marco, Teumer, Alexander, Naitza, Silvia, Sanna, Serena, Schultheiss, Ulla T., Cappola, Anne, Karjalainen, Juha, Kurki, Mitja, Oneka, Morgan, Taylor, Peter, Fritsche, Lars G., Graham, Sarah E., Wolford, Brooke N., Overton, William, Rasheed, Humaira, Haug, Eirin B., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Surakka, Ida, Davey Smith, George, Pandit, Anita, Roychowdhury, Tanmoy, Hornsby, Whitney E., Jonasson, Jon G., Senter, Leigha, Liyanarachchi, Sandya, Ringel, Matthew D., Xu, Li, Kiemeney, Lambertus A., He, Huiling, Netea-Maier, Romana T., Mayordomo, Jose I., Plantinga, Theo S., Hrafnkelsson, Jon, Hjartarson, Hannes, Sturgis, Erich M., Palotie, Aarno, Daly, Mark, Citterio, Cintia E., Arvan, Peter, Brummett, Chad M., Boehnke, Michael, de la Chapelle, Albert, Stefansson, Kari, Hveem, Kristian, Willer, Cristen J., and Åsvold, Bjørn Olav

Published
2020
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39. Metastatic breast cancer patient perceptions of somatic tumor genomic testing

Author

Adams, Elizabeth J., Asad, Sarah, Reinbolt, Raquel, Collier, Katharine A., Abdel-Rasoul, Mahmoud, Gillespie, Susan, Chen, James L., Cherian, Mathew A., Noonan, Anne M., Sardesai, Sagar, VanDeusen, Jeffrey, Wesolowski, Robert, Williams, Nicole, Shapiro, Charles L., Macrae, Erin R., Pilarski, Robert, Toland, Amanda E., Senter, Leigha, Ramaswamy, Bhuvaneswari, Lee, Clara N., Lustberg, Maryam B., and Stover, Daniel G.

Published
2020
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43. Supplementary Tables 1-9 from Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Author

Mavaddat, Nasim, primary, Barrowdale, Daniel, primary, Andrulis, Irene L., primary, Domchek, Susan M., primary, Eccles, Diana, primary, Nevanlinna, Heli, primary, Ramus, Susan J., primary, Spurdle, Amanda, primary, Robson, Mark, primary, Sherman, Mark, primary, Mulligan, Anna Marie, primary, Couch, Fergus J., primary, Engel, Christoph, primary, McGuffog, Lesley, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Southey, Melissa C., primary, Terry, Mary Beth, primary, Goldgar, David, primary, O'Malley, Frances, primary, John, Esther M., primary, Janavicius, Ramunas, primary, Tihomirova, Laima, primary, Hansen, Thomas V. O., primary, Nielsen, Finn C., primary, Osorio, Ana, primary, Stavropoulou, Alexandra, primary, Benítez, Javier, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Barile, Monica, primary, Volorio, Sara, primary, Pasini, Barbara, primary, Dolcetti, Riccardo, primary, Putignano, Anna Laura, primary, Ottini, Laura, primary, Radice, Paolo, primary, Hamann, Ute, primary, Rashid, Muhammad U., primary, Hogervorst, Frans B., primary, Kriege, Mieke, primary, van der Luijt, Rob B., primary, Peock, Susan, primary, Frost, Debra, primary, Evans, D. Gareth, primary, Brewer, Carole, primary, Walker, Lisa, primary, Rogers, Mark T., primary, Side, Lucy E., primary, Houghton, Catherine, primary, Weaver, JoEllen, primary, Godwin, Andrew K., primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Meindl, Alfons, primary, Kast, Karin, primary, Arnold, Norbert, primary, Niederacher, Dieter, primary, Sutter, Christian, primary, Deissler, Helmut, primary, Gadzicki, Doroteha, primary, Preisler-Adams, Sabine, primary, Varon-Mateeva, Raymonda, primary, Schönbuchner, Ines, primary, Gevensleben, Heidrun, primary, Stoppa-Lyonnet, Dominique, primary, Belotti, Muriel, primary, Barjhoux, Laure, primary, Isaacs, Claudine, primary, Peshkin, Beth N., primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Cañadas, Carmen, primary, Heikkinen, Tuomas, primary, Heikkilä, Päivi, primary, Aittomäki, Kristiina, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Brunet, Joan, primary, Agnarsson, Bjarni A., primary, Arason, Adalgeir, primary, Barkardottir, Rosa B., primary, Dumont, Martine, primary, Simard, Jacques, primary, Montagna, Marco, primary, Agata, Simona, primary, D'Andrea, Emma, primary, Yan, Max, primary, Fox, Stephen, primary, Rebbeck, Timothy R., primary, Rubinstein, Wendy, primary, Tung, Nadine, primary, Garber, Judy E., primary, Wang, Xianshu, primary, Fredericksen, Zachary, primary, Pankratz, Vernon S., primary, Lindor, Noralane M., primary, Szabo, Csilla, primary, Offit, Kenneth, primary, Sakr, Rita, primary, Gaudet, Mia M., primary, Singer, Christian F., primary, Tea, Muy-Kheng, primary, Rappaport, Christine, primary, Mai, Phuong L., primary, Greene, Mark H., primary, Sokolenko, Anna, primary, Imyanitov, Evgeny, primary, Toland, Amanda Ewart, primary, Senter, Leigha, primary, Sweet, Kevin, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Kruse, Torben, primary, Caligo, Maria, primary, Aretini, Paolo, primary, Rantala, Johanna, primary, von Wachenfeld, Anna, primary, Henriksson, Karin, primary, Steele, Linda, primary, Neuhausen, Susan L., primary, Nussbaum, Robert, primary, Beattie, Mary, primary, Odunsi, Kunle, primary, Sucheston, Lara, primary, Gayther, Simon A., primary, Nathanson, Kate, primary, Gross, Jenny, primary, Walsh, Christine, primary, Karlan, Beth, primary, Chenevix-Trench, Georgia, primary, Easton, Douglas F., primary, and Antoniou, Antonis C., primary

Published
2023
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45. Patient Understanding of Tumor Genomic Testing: A Quality Improvement Effort

Author

Senter, Leigha, primary, Veney, Deloris, additional, Surplus, Taylor, additional, Haynam, Marcy, additional, Adams, Elizabeth J., additional, Hampel, Heather, additional, Toland, Amanda E., additional, Presley, Carolyn J., additional, Padamsee, Tasleem J., additional, Lee, Clara N., additional, Hovick, Shelly R., additional, and Stover, Daniel G., additional

Published
2023
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46. The risks of cancer in older women with BRCA pathogenic variants: How far have we come?

Author

Metcalfe, Kelly A., primary, Gronwald, Jacek, additional, Tung, Nadine M., additional, McCuaig, Jeanna M., additional, Eisen, Andrea, additional, Elser, Christine, additional, Foulkes, William D., additional, Neuhausen, Susan L., additional, Senter, Leigha, additional, Moller, Pal, additional, Bordeleau, Louise, additional, Fruscio, Robert, additional, Velsher, Lea, additional, Zakalik, Dana, additional, Olopade, Olufunmilayo I., additional, Eng, Charis, additional, Pal, Tuya, additional, Cullinane, Carey A., additional, Couch, Fergus J., additional, Kotsopoulos, Joanne, additional, Sun, Ping, additional, Lubinski, Jan, additional, and Narod, Steven A., additional

Published
2022
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49. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Author

Phelan, Catherine M, Kuchenbaecker, Karoline B, Tyrer, Jonathan P, Kar, Siddhartha P, Lawrenson, Kate, Winham, Stacey J, Dennis, Joe, Pirie, Ailith, Riggan, Marjorie J, Chornokur, Ganna, Earp, Madalene A, Lyra, Jr, Paulo C, Lee, Janet M, Coetzee, Simon, Beesley, Jonathan, McGuffog, Lesley, Soucy, Penny, Dicks, Ed, Lee, Andrew, Barrowdale, Daniel, Lecarpentier, Julie, Leslie, Goska, Aalfs, Cora M, Aben, Katja K H, Adams, Marcia, Adlard, Julian, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia, Aravantinos, Gerasimos, Arnold, Norbert, Arun, Banu K, Arver, Brita, Azzollini, Jacopo, Balmaña, Judith, Banerjee, Susana N, Barjhoux, Laure, Barkardottir, Rosa B, Bean, Yukie, Beckmann, Matthias W, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q, Birrer, Michael J, Bjorge, Line, Black, Amanda, Blankstein, Kenneth, Blok, Marinus J, Bodelon, Clara, Bogdanova, Natalia, Bojesen, Anders, Bonanni, Bernardo, Borg, Åke, Bradbury, Angela R, Brenton, James D, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Buecher, Bruno, Butzow, Ralf, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Cannioto, Rikki, Carney, Michael E, Cescon, Terence, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen, Chen, Xiao Qing, Chiew, Yoke-Eng, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen B M, Conner, Thomas, Cook, Linda S, Cook, Jackie, Cramer, Daniel W, Cunningham, Julie M, D'Aloisio, Aimee A, Daly, Mary B, Damiola, Francesca, Damirovna, Sakaeva Dina, Dansonka-Mieszkowska, Agnieszka, Dao, Fanny, Davidson, Rosemarie, DeFazio, Anna, Delnatte, Capucine, Doheny, Kimberly F, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer Anne, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dossus, Laure, Duran, Mercedes, Dürst, Matthias, Dworniczak, Bernd, Eccles, Diana, Edwards, Todd, Eeles, Ros, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B, Ellis, Steve, Elvira, Mingajeva, Eng, Kevin H, Engel, Christoph, Evans, D Gareth, Fasching, Peter A, Ferguson, Sarah, Ferrer, Sandra Fert, Flanagan, James M, Fogarty, Zachary C, Fortner, Renée T, Fostira, Florentia, Foulkes, William D, Fountzilas, George, Fridley, Brooke L, Friebel, Tara M, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, García, María J, Garcia-Barberan, Vanesa, Gehrig, Andrea, Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G, Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Goranova, Teodora, Gore, Martin, Greene, Mark H, Gronwald, Jacek, Gruber, Stephen, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V O, Harrington, Patricia A, Harris, Holly R, Hauke, Jan, Hein, Alexander, Henderson, Alex, Hildebrandt, Michelle A T, Hillemanns, Peter, Hodgson, Shirley, Høgdall, Claus K, Høgdall, Estrid, Hogervorst, Frans B L, Holland, Helene, Hooning, Maartje J, Hosking, Karen, Huang, Ruea-Yea, Hulick, Peter J, Hung, Jillian, Hunter, David J, Huntsman, David G, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Iversen, Edwin S, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jernetz, Mats, Jensen, Allan, Jensen, Uffe Birk, John, Esther M, Johnatty, Sharon, Jones, Michael E, Kannisto, Päivi, Karlan, Beth Y, Karnezis, Anthony, Kast, Karin, Kennedy, Catherine J, Khusnutdinova, Elza, Kiemeney, Lambertus A, Kiiski, Johanna I, Kim, Sung-Won, Kjaer, Susanne K, Köbel, Martin, Kopperud, Reidun K, Kruse, Torben A, Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Larrañaga, Nerea, Larson, Melissa C, Lazaro, Conxi, Le, Nhu D, Le Marchand, Loic, Lee, Jong Won, Lele, Shashikant B, Leminen, Arto, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A, Liang, Dong, Liebrich, Clemens, Lilyquist, Jenna, Lipworth, Loren, Lissowska, Jolanta, Lu, Karen H, Lubinński, Jan, Luccarini, Craig, Lundvall, Lene, Mai, Phuong L, Mendoza-Fandiño, Gustavo, Manoukian, Siranoush, Massuger, Leon F A G, May, Taymaa, Mazoyer, Sylvie, McAlpine, Jessica N, McGuire, Valerie, McLaughlin, John R, McNeish, Iain, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R, Merritt, Melissa A, Milne, Roger L, Mitchell, Gillian, Modugno, Francesmary, Moes-Sosnowska, Joanna, Moffitt, Melissa, Montagna, Marco, Moysich, Kirsten B, Mulligan, Anna Marie, Musinsky, Jacob, Nathanson, Katherine L, Nedergaard, Lotte, Ness, Roberta B, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L, Odunsi, Kunle, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Olswold, Curtis, O'Malley, David M, Ong, Kai-ren, Onland-Moret, N Charlotte, Orr, Nicholas, Orsulic, Sandra, Osorio, Ana, Palli, Domenico, Papi, Laura, Park-Simon, Tjoung-Won, Paul, James, Pearce, Celeste L, Pedersen, Inge Søkilde, Peeters, Petra H M, Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M, Permuth, Jennifer B, Peterlongo, Paolo, Pezzani, Lidia, Pfeiler, Georg, Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C, Piskorz, Anna M, Poblete, Samantha R, Pocza, Timea, Poole, Elizabeth M, Poppe, Bruce, Porteous, Mary E, Prieur, Fabienne, Prokofyeva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pujol, Pascal, Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rhiem, Kerstin, Rice, Patricia, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C, Rodríguez-Antona, Cristina, Romm, Jane, Rookus, Matti A, Rossing, Mary Anne, Rothstein, Joseph H, Rudolph, Anja, Runnebaum, Ingo B, Salvesen, Helga B, Sandler, Dale P, Schoemaker, Minouk J, Senter, Leigha, Setiawan, V Wendy, Severi, Gianluca, Sharma, Priyanka, Shelford, Tameka, Siddiqui, Nadeem, Side, Lucy E, Sieh, Weiva, Singer, Christian F, Sobol, Hagay, Song, Honglin, Southey, Melissa C, Spurdle, Amanda B, Stadler, Zsofia, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sucheston-Campbell, Lara E, Sukiennicki, Grzegorz, Sutphen, Rebecca, Sutter, Christian, Swerdlow, Anthony J, Szabo, Csilla I, Szafron, Lukasz, Tan, Yen Y, Taylor, Jack A, Tea, Muy-Kheng, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Kathryn L, Thompson, Pamela J, Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L, Tihomirova, Laima, Tinker, Anna V, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tone, Alicia, Trabert, Britton, Travis, Ruth C, Trichopoulou, Antonia, Tung, Nadine, Tworoger, Shelley S, van Altena, Anne M, Van Den Berg, David, van der Hout, Annemarie H, van der Luijt, Rob B, Van Heetvelde, Mattias, Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J, Vanderstichele, Adriaan, Varon-Mateeva, Raymonda, Vega, Ana, Edwards, Digna Velez, Vergote, Ignace, Vierkant, Robert A, Vijai, Joseph, Vratimos, Athanassios, Walker, Lisa, Walsh, Christine, Wand, Dorothea, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Webb, Penelope M, Weinberg, Clarice R, Weitzel, Jeffrey N, Wentzensen, Nicolas, Whittemore, Alice S, Wijnen, Juul T, Wilkens, Lynne R, Wolk, Alicja, Woo, Michelle, Wu, Xifeng, Wu, Anna H, Yang, Hannah, Yannoukakos, Drakoulis, Ziogas, Argyrios, Zorn, Kristin K, Narod, Steven A, Easton, Douglas F, Amos, Christopher I, Schildkraut, Joellen M, Ramus, Susan J, Ottini, Laura, Goodman, Marc T, Park, Sue K, Kelemen, Linda E, Risch, Harvey A, Thomassen, Mads, Offit, Kenneth, Simard, Jacques, Schmutzler, Rita Katharina, Hazelett, Dennis, Monteiro, Alvaro N, Couch, Fergus J, Berchuck, Andrew, Chenevix-Trench, Georgia, Goode, Ellen L, Sellers, Thomas A, Gayther, Simon A, Antoniou, Antonis C, and Pharoah, Paul D P

Published
2017
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