Author: "FRUSCIO, ROBERT" - Searchworks@Jio Institute Digital Library Search Results

1,005 results on '"FRUSCIO, ROBERT"'

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

2. Bilateral Oophorectomy and All-Cause Mortality in Women With BRCA1 and BRCA2 Sequence Variations

Author: Kotsopoulos, Joanne, Gronwald, Jacek, Huzarski, Tomasz, Møller, Pål, Pal, Tuya, McCuaig, Jeanna M, Singer, Christian F, Karlan, Beth Y, Aeilts, Amber, Eng, Charis, Eisen, Andrea, Bordeleau, Louise, Foulkes, William D, Tung, Nadine, Couch, Fergus J, Fruscio, Robert, Neuhausen, Susan L, Zakalik, Dana, Cybulski, Cezary, Metcalfe, Kelly, Olopade, Olufunmilayo I, Sun, Ping, Lubinski, Jan, Narod, Steven A, Sweet, Kevin, Elser, Christine, Wiesner, Georgia, Poll, Aletta, Kim, Raymond, Armel, Susan T, Demsky, Rochelle, Steele, Linda, Saal, Howard, Serfas, Kim, Panchal, Seema, Cullinane, Carey A, Reilly, Robert E, Rayson, Daniel, Mercer, Leanne, Cajal, Teresa Ramon Y, Dungan, Jeffrey, Cohen, Stephanie, Lemire, Edmond, Zovato, Stefania, and Rastelli, Antonella
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Breast Cancer, Ovarian Cancer, Clinical Research, Prevention, Rare Diseases, Good Health and Well Being, Female, Humans, Adult, Middle Aged, Aged, Male, BRCA1 Protein, BRCA2 Protein, Cohort Studies, Longitudinal Studies, Mutation, Ovariectomy, Breast Neoplasms, Risk Management, Ovarian Neoplasms, Hereditary Breast Cancer Clinical Study Group, Public Health and Health Services, Oncology and carcinogenesis
Abstract: ImportancePreventive bilateral salpingo-oophorectomy is offered to women at high risk of ovarian cancer who carry a pathogenic variant in BRCA1 or BRCA2; however, the association of oophorectomy with all-cause mortality has not been clearly defined.ObjectiveTo evaluate the association between bilateral oophorectomy and all-cause mortality among women with a BRCA1 or BRCA2 sequence variation.Design, setting, and participantsIn this international, longitudinal cohort study of women with BRCA sequence variations, information on bilateral oophorectomy was obtained via biennial questionnaire. Participants were women with a BRCA1 or BRCA2 sequence variation, no prior history of cancer, and at least 1 follow-up questionnaire completed. Women were followed up from age 35 to 75 years for incident cancers and deaths. Cox proportional hazards regression was used to estimate the hazard ratios (HRs) and 95% CIs for all-cause mortality associated with a bilateral oophorectomy (time dependent). Data analysis was performed from January 1 to June 1, 2023.ExposuresSelf-reported bilateral oophorectomy (with or without salpingectomy).Main outcomes and measuresAll-cause mortality, breast cancer-specific mortality, and ovarian cancer-specific mortality.ResultsThere were 4332 women (mean age, 42.6 years) enrolled in the cohort, of whom 2932 (67.8%) chose to undergo a preventive oophorectomy at a mean (range) age of 45.4 (23.0-77.0) years. After a mean follow-up of 9.0 years, 851 women had developed cancer and 228 had died; 57 died of ovarian or fallopian tube cancer, 58 died of breast cancer, 16 died of peritoneal cancer, and 97 died of other causes. The age-adjusted HR for all-cause mortality associated with oophorectomy was 0.32 (95% CI, 0.24-0.42; P
Published: 2024

3. Tamoxifen and the risk of breast cancer in women with a BRCA1 or BRCA2 mutation

Author: Kotsopoulos, Joanne, Gronwald, Jacek, Huzarski, Tomasz, Aeilts, Amber, Randall Armel, Susan, Karlan, Beth, Singer, Christian F, Eisen, Andrea, Tung, Nadine, Olopade, Olufunmilayo, Bordeleau, Louise, Eng, Charis, Foulkes, William D, Neuhausen, Susan L, Cullinane, Carey A, Pal, Tuya, Fruscio, Robert, Lubinski, Jan, Metcalfe, Kelly, Sun, Ping, and Narod, Steven A
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Prevention, Genetics, Aging, Cancer, Breast Cancer, Aetiology, 2.2 Factors relating to the physical environment, Humans, Female, Tamoxifen, Breast Neoplasms, Raloxifene Hydrochloride, Genes, BRCA1, Mutation, Risk Factors, BRCA1 Protein, BRCA2 Protein, BRCA1, BRCA2, Raloxifene, Chemoprevention, Breast cancer, and the Hereditary Breast Cancer Clinical Study Group, Clinical Sciences, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis
Abstract: PurposeChemoprevention with a selective estrogen receptor modulator (tamoxifen or raloxifene) is a non-surgical option offered to high-risk women to reduce the risk of breast cancer. The evidence for tamoxifen benefit is based on trials conducted among predominantly postmenopausal women from the general population and on studies of contralateral breast cancer in women with a pathogenic variant (mutation hereafter) in BRCA1 or BRCA2. Tamoxifen has not been assessed as a primary prevention agent in women with an inherited BRCA mutation.MethodsWe conducted a prospective analysis of tamoxifen chemoprevention and the risk of breast cancer in women with a BRCA1 or BRCA2 mutation. Data on tamoxifen (and raloxifene) use was collected by questionnaire and updated biennially. Information on incident cancers was collected by self-report and was confirmed by medical record review. In a matched analysis, we estimated the hazard ratio (HR) and 95% confidence intervals (CI) for developing a first primary breast cancer associated with tamoxifen or raloxifene use, using Cox proportional hazards analysis.ResultsThere were 4578 unaffected women in the cohort, of whom 137 reported tamoxifen use (3%), 83 reported raloxifene use (2%) and 12 used both drugs (0.3%). Women who used tamoxifen or raloxifene were matched 1:3 with women who used neither drug on year of birth, country of residence, year of study entry and gene (BRCA1 or BRCA2). We generated 202 matched pairs. After a mean follow-up of 6.8 years, there were 22 incident breast cancers diagnosed among tamoxifen/raloxifene users (10.9% of users) and 71 cases diagnosed among non-users (14.3% of non-users; HR = 0.64; 95% CI 0.40-1.03; P = 0.07).ConclusionChemoprevention may be an effective risk-reduction option for BRCA mutation carriers, but further studies with longer follow-up are necessary.
Published: 2023

4. An exploration of body image distress in women who underwent a prophylactic bilateral salpingo-oophorectomy (PBSO)

Author: Zarbo, Cristina, Fruscio, Robert, Brugnera, Agostino, Strepparava, Maria Grazia, Secomandi, Rita, Malandrino, Chiara, Celi, Chiara, Sina, Federica Paola, Tessitore, Isadora Vaglio, Dessì, Valentina, Ventura, Mariangela, Compare, Angelo, and Frigerio, Luigi
Published: 2024
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5. Onvansertib treatment overcomes olaparib resistance in high-grade ovarian carcinomas

Author: Chiappa, Michela, Decio, Alessandra, Guarrera, Luca, Mengoli, Ilaria, Karki, Anju, Yemane, Divora, Ghilardi, Carmen, Scanziani, Eugenio, Canesi, Simone, Barbera, Maria C., Craparotta, Ilaria, Bolis, Marco, Fruscio, Robert, Grasselli, Chiara, Ceruti, Tommaso, Zucchetti, Massimo, Patterson, Jesse C., Lu, Robin A., Yaffe, Micheal B., Ridinger, Maya, Damia, Giovanna, and Guffanti, Federica
Published: 2024
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6. Incidence of endometrial cancer in BRCA mutation carriers

Author: Kotsopoulos, Joanne, Lubinski, Jan, Huzarski, Tomasz, Bychkovsky, Brittany L., Moller, Pal, Kim, Raymond H., Tung, Nadine, Eisen, Andrea, Foulkes, William, Singer, Christian F., Aeilts, Amber, Neuhausen, Susan L., Bordeleau, Louise, Karlan, Beth, Fruscio, Robert, Eng, Charis, Olopade, Olufunmilayo, Zakalik, Dana, Couch, Fergus, y Cajal, Teresa Ramon, Sun, Ping, Gronwald, Jacek, and Narod, Steven A.
Published: 2024
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7. The paradigm shift in advanced ovarian cancer: Outcomes of extensive primary cytoreductive surgery. A single-center retrospective analysis

Author: Bianchi, Tommaso, Grassi, Tommaso, Bazzurini, Luca, Testa, Filippo, Corti, Jasmine, Pecis Cavagna, Giorgia, Bombelli, Martina, Lissoni, Andrea Alberto, Di Martino, Giampaolo, Trezzi, Gaetano, De Ponti, Elena, Fruscio, Robert, and Landoni, Fabio
Published: 2024
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8. The impact of Substantial LYMphovascular space invasion on sentinel lymph nodes status and recurrence in Endometrial Cancer patients: SLYM-EC a multicenter retrospective study

Author: Buda, Alessandro, Fruscio, Robert, Mauro, Jessica, Imboden, Sara, De Ponti, Elena, Perrone, Emanuele, Grassi, Tommaso, Bruno, Valentina, Garcia-Pineda, Virginia, Taskin, Salih, Restaino, Stefano, Siegenthaler, Franziska, Casarin, Jvan, Raimondo, Diego, Capozzi, Vito Andrea, Vatansever, Dogan, Capasso, Ilaria, Vizza, Enrico, Gungor, Mete, Zapardiel, Ignacio, Papadia, Andrea, Taskiran, Cagatay, Fanfani, Francesco, Vizzielli, Giuseppe, Scambia, Giovanni, and Mueller, Michael
Published: 2024
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9. 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

10. Clinical characteristics and survival outcome of early-stage, high-grade, serous tubo-ovarian carcinoma according to BRCA mutational status

Author: Marchetti, Claudia, Ataseven, Beyhan, Perrone, Anna M., Cassani, Chiara, Fruscio, Robert, Sassu, Carolina M., Apostol, Adriana I., Harter, Philipp, De Iaco, Pierandrea, Camnasio, Cristina Angela, Moubarak, Malak, Giannarelli, Diana, Scambia, Giovanni, and Fagotti, Anna
Published: 2024
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11. Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement

Author: Møller, Pal, Seppälä, Toni T., Ahadova, Aysel, Crosbie, Emma J., Holinski-Feder, Elke, Scott, Rodney, Haupt, Saskia, Möslein, Gabriela, Winship, Ingrid, Broeke, Sanne W. Bajwa-ten, Kohut, Kelly E., Ryan, Neil, Bauerfeind, Peter, Thomas, Laura E., Evans, D. Gareth, Aretz, Stefan, Sijmons, Rolf H., Half, Elizabeth, Heinimann, Karl, Horisberger, Karoline, Monahan, Kevin, Engel, Christoph, Cavestro, Giulia Martina, Fruscio, Robert, Abu-Freha, Naim, Zohar, Levi, Laghi, Luigi, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Vaccaro, Carlos, Valle, Adriana Della, Rossi, Benedito Mauro, da Silva, Leandro Apolinário, de Oliveira Nascimento, Ivana Lucia, Rossi, Norma Teresa, Dębniak, Tadeusz, Mecklin, Jukka-Pekka, Bernstein, Inge, Lindblom, Annika, Sunde, Lone, Nakken, Sigve, Heuveline, Vincent, Burn, John, Hovig, Eivind, Kloor, Matthias, Sampson, Julian R., and Dominguez-Valentin, Mev
Published: 2023
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12. 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

13. 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

14. 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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15. Evaluation of two alternative non-alcohol-based media for the suspension of self-collected vaginal swabs for HPV testing in cervical cancer screening

Author: Giubbi, Chiara, Martinelli, Marianna, Di Meo, Maria Letizia, Njoku, Ruth Chinyere, Perdoni, Federica, Fruscio, Robert, Landoni, Fabio, and Cocuzza, Clementina Elvezia
Published: 2024
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16. 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

17. Primary neuroendocrine neoplasms of the vulva: A review of the MITO rare cancer group

Author: Barcellini, Amelia, Golia D’Augè, Tullio, Mandato, Vincenzo Dario, Cuccu, Ilaria, Musella, Angela, Fruscio, Robert, Vitale, Maria Giuseppa, Martinello, Ruby, Mangili, Giorgia, Pignata, Sandro, and Palaia, Innocenza
Published: 2024
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18. Lymph node staging in grade 1–2 endometrioid ovarian carcinoma apparently confined to the ovary: Is it worth?

Author: Bizzarri, Nicolò, Imterat, Majdi, Fruscio, Robert, Giannarelli, Diana, Perrone, Anna Myriam, Mancari, Rosanna, Traut, Alexander, Rosati, Andrea, du Bois, Andreas, Ferrari, Debora, De Iaco, Pierandrea, Ergasti, Raffaella, Ataseven, Beyhan, Bianchi, Tommaso, Di Stanislao, Marco, Perri, Maria Teresa, Heitz, Florian, Concin, Nicole, Fanfani, Francesco, Vizza, Enrico, Scambia, Giovanni, Harter, Philipp, and Fagotti, Anna
Published: 2023
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19. 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

20. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Author: Dominguez-Valentin, Mev, Haupt, Saskia, Seppälä, Toni T., Sampson, Julian R., Sunde, Lone, Bernstein, Inge, Jenkins, Mark A., Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Balaguer, Francesc, 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, Della Valle, Adriana, Heinimann, Karl, Dębniak, Tadeusz, Fruscio, Robert, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Katz, Lior H., Laish, Ido, Vainer, Elez, Vaccaro, Carlos, Carraro, Dirce Maria, Monahan, Kevin, Half, Elizabeth, Stakelum, Aine, Winter, Des, Kennelly, Rory, Gluck, Nathan, Sheth, Harsh, Abu-Freha, Naim, Greenblatt, Marc, Rossi, Benedito Mauro, Bohorquez, Mabel, Cavestro, Giulia Martina, Lino-Silva, Leonardo S., Horisberger, Karoline, Tibiletti, Maria Grazia, Nascimento, Ivana do, Thomas, Huw, Rossi, Norma Teresa, Apolinário da Silva, Leandro, Zaránd, Attila, Ruiz-Bañobre, Juan, Heuveline, Vincent, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Therkildsen, Christina, Madsen, Mia Gebauer, Burgdorf, Stefan Kobbelgaard, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Schröck, Evelin, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, Redler, Silke, Büttner, Reinhard, Weitz, Jürgen, Pineda, Marta, Duenas, Nuria, Vidal, Joan Brunet, Moreira, Leticia, Sánchez, Ariadna, Hovig, Eivind, Nakken, Sigve, Green, Kate, Lalloo, Fiona, Hill, James, Crosbie, Emma, Mints, Miriam, Goldberg, Yael, Tjandra, Douglas, ten Broeke, Sanne W., Kariv, Revital, Rosner, Guy, Advani, Suresh H., Thomas, Lidiya, Shah, Pankaj, Shah, Mithun, Neffa, Florencia, Esperon, Patricia, Pavicic, Walter, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia Alejandra, Moslein, Gabriela, and Moller, Pål
Published: 2023
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21. Reporting guidelines for surgical technique could be improved: a scoping review and a call for action

Author: Shi, Qianling, Ma, Yanfang, Zhang, Xianzhuo, Jiao, Panpan, Zhang, Kaiping, Barchi, Leandro Cardoso, Bedetti, Benedetta, Wu, Jinlin, Wei, Benjamin, Ng, Calvin S.H., Toker, Alper, Shen, Jianfei, Fruscio, Robert, Gilbert, Sebastien, Petersen, Rene Horsleben, Hochwald, Steven, Štupnik, Tomaž, Elkhayat, Hussein, Scarci, Marco, Levi Sandri, Giovanni Battista, Abu Akar, Firas, Waseda, Ryuichi, Sihoe, Alan D.L., Fiorelli, Alfonso, Gonzalez, Michel, Davoli, Fabio, Li, Grace S., Tang, Xueqin, Qiu, Bin, Wang, Stephen D., Chen, Yaolong, and Gao, Shugeng
Published: 2023
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22. Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement

Author: Maller, Pal, Seppälä, Toni T., Ahadova, Aysel, Crosbie, Emma J., Holinski-Feder, Elke, Scott, Rodney, Haupt, Saskia, Möslein, Gabriela, Winship, Ingrid, Broeke, Sanne W. Bajwa-ten, Kohut, Kelly E., Ryan, Neil, Bauerfeind, Peter, Thomas, Laura E., Evans, D. Gareth, Aretz, Stefan, Sijmons, Rolf H., Half, Elizabeth, Heinimann, Karl, Horisberger, Karoline, Monahan, Kevin, Engel, Christoph, Cavestro, Giulia Martina, Fruscio, Robert, Abu-Freha, Naim, Zohar, Levi, Laghi, Luigi, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Vaccaro, Carlos, Valle, Adriana Della, Rossi, Benedito Mauro, da Silva, Leandro Apolinário, de Oliveira Nascimento, Ivana Lucia, Rossi, Norma Teresa, DÄbniak, Tadeusz, Mecklin, Jukka-Pekka, Bernstein, Inge, Lindblom, Annika, Sunde, Lone, Nakken, Sigve, Heuveline, Vincent, Burn, John, Hovig, Eivind, Kloor, Matthias, Sampson, Julian R., and Dominguez-Valentin, Mev
Subjects: Aspirin, Stochastic processes, Colorectal cancer -- Genetic aspects -- Development and progression, Immunotherapy, Cancer -- Development and progression -- Genetic aspects, Ovarian cancer -- Development and progression -- Genetic aspects, Health
Abstract: The recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and PMS2 has modified our understanding of carcinogenesis. Inherited loss of function variants in each of these MMR genes cause four dominantly inherited cancer syndromes with different penetrance and expressivities: the four Lynch syndromes. No person has an 'average sex 'or a pathogenic variant in an 'average Lynch syndrome gene' and results that are not stratified by gene and sex will be valid for no one. Carcinogenesis may be a linear process from increased cellular division to localized cancer to metastasis. In addition, in the Lynch syndromes (LS) we now recognize a dynamic balance between two stochastic processes: MSI producing abnormal cells, and the host's adaptive immune system's ability to remove them. The latter may explain why colonoscopy surveillance does not reduce the incidence of colorectal cancer in LS, while it may improve the prognosis. Most early onset colon, endometrial and ovarian cancers in LS are now cured and most cancer related deaths are after subsequent cancers in other organs. Aspirin reduces the incidence of colorectal and other cancers in LS. Immunotherapy increases the host immune system's capability to destroy MSI cancers. Colonoscopy surveillance, aspirin prevention and immunotherapy represent major steps forward in personalized precision medicine to prevent and cure inherited MSI cancer., Author(s): Pal Maller[sup.1], Toni T. Seppälä[sup.2,3,4], Aysel Ahadova[sup.5,6,7], Emma J. Crosbie[sup.8,9], Elke Holinski-Feder[sup.10,11], Rodney Scott[sup.12], Saskia Haupt[sup.13,14], Gabriela Möslein[sup.15], Ingrid Winship[sup.16,17], Sanne W. Bajwa-ten Broeke[sup.18], Kelly E. Kohut[sup.19], Neil Ryan[sup.20,21], [...]
Published: 2023
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23. Fertility Preservation and Cervical Cancer: Fertility-Sparing Surgery and Cervical Cancer in Pregnancy

Author: Ceppi, Lorenzo, primary, Grassi, Tommaso, additional, Fruscio, Robert, additional, Preti, Eleonora, additional, and Landoni, Fabio, additional
Published: 2022
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24. Elective surgery system strengthening: development, measurement, and validation of the surgical preparedness index across 1632 hospitals in 119 countries

Author: Glasbey, James C, Abbott, Tom EF, Ademuyiwa, Adesoji, Adisa, Adewale, AlAmeer, Ehab, Alshryda, Sattar, Arnaud, Alexis P, Bankhead-Kendall, Brittany, Abou Chaar, M K, Chaudhry, Daoud, Costas-Chavarri, Ainhoa, Cunha, Miguel F, Davies, Justine I, Desai, Anant, Elhadi, Muhammed, Fiore, Marco, Fitzgerald, James Edward, Fourtounas, Maria, Fowler, Alex James, Futaba, Kay, Gallo, Gaetano, Ghosh, Dhruva, Gujjuri, Rohan R, Hamilton, Rebecca, Haque, Parvez, Harrison, Ewen M, Hutchinson, Peter, Hyman, Gabriella, Isik, Arda, Jayarajah, Umesh, Kaafarani, Haytham MA, Kadir, Bryar, Lawani, Ismail, Lederhuber, Hans, Li, Elizabeth, Löffler, Markus W, Lorena, Maria Aguilera, Mann, Harvinder, Martin, Janet, Mazingi, Dennis, McClain, Craig D, McLean, Kenneth A, Meara, John G, Ramos-De La Medina, Antonio, Mengesha, Mengistu, Minaya, Ana, Modolo, Maria Marta, Moore, Rachel, Morton, Dion, Nepogodiev, Dmitri, Ntirenganya, Faustin, Pata, Francesco, Pearse, Rupert, Picciochi, Maria, Pinkney, Thomas, Pockney, Peter, van Ramshorst, Gabrielle H, Richards, Toby, Roslani, April Camilla, Satoi, Sohei, Sayyed, Raza, Shaw, Richard, Simões, Joana FF, Smart, Neil, Sullivan, Richard, Sund, Malin, Sundar, Sudha, Tabiri, Stephen, Taylor, Elliott H, Venn, Mary L, Wickramasinghe, Dakshitha, Wright, Naomi, Yip, Sebastian Bernardo Shu, Bhangu, Aneel, Omar, Omar, Harrison, Ewen, Bhangu, Aneel A, Siaw-Acheampong, Kwabena, Benson, Ruth A, Bywater, Edward, Dawson, Brett E, Evans, Jonathan P, Heritage, Emily, Jones, Conor S, Kamarajah, Sivesh K, Khatri, Chetan, Khaw, Rachel A, Keatley, James M, Knight, Andrew, Lawday, Samuel, Mann, Harvinder S, Marson, Ella J, Mckay, Siobhan C, Mills, Emily C, Pellino, Gianluca, Tiwari, Abhinav, Trout, Isobel M, Wilkin, Richard JW, Abukhalaf, Sadi, Adamina, Michel, Ademuyiwa, Adesoji O, Agarwal, Arnav, Akkulak, Murat, Alameer, Ehab, Alderson, Derek, Alakaloko, Felix, Albertsmeier, Markus, Alser, Osaid, Alshaar, Muhammad, Augestad, Knut Magne, Ayasra, Faris, Azevedo, José, Bankhead-Kendall, Brittany K, Barlow, Emma, Beard, David, Blanco-Colino, Ruth, Brar, Amanpreet, Minaya-Bravo, Ana, Breen, Kerry A, Bretherton, Chris, Buarque, Igor Lima, Burke, Joshua, Caruana, Edward J, Chaar, Mohammad, Chakrabortee, Sohini, Christensen, Peter, Cox, Daniel, Cukier, Moises, Davidson, Giana H, Di Saverio, Salomone, Drake, Thomas M, Edwards, John G, Emile, Sameh, Farik, Shebani, Ford, Samuel, Garmanova, Tatiana, Gomes, Gustavo Mendonça Ataíde, Grecinos, Gustavo, Griffiths, Ewen A, Gruendl, Magdalena, Halkias, Constantine, Hisham, Intisar, Hutchinson, Peter J, Hwang, Shelley, Jenkinson, Michael D, Jonker, Pascal, Keller, Debby, Kolias, Angelos, Kruijff, Schelto, Leventoglu, Sezai, Litvin, Andrey, Loehrer, Andrew, Major, Piotr, Mashbari, Hassan N, Metallidis, Symeon, Mohan, Helen M, Moszkowicz, David, Moug, Susan, Ng-Kamstra, Joshua S, Maimbo, Mayaba, Negoi, Ionut, Niquen, Milagros, Olivos, Maricarmen, Oussama, Kacimi, Outani, Oumaima, Parreno-Sacdalanm, Marie Dione, Rivera, Carlos Jose Perez, Pinkney, Thomas D, Plas, Willemijn van der, Qureshi, Ahmad, Radenkovic, Dejan, Revell, Elliot J, Roberts, Keith, Roslani, April C, Rutegård, Martin, Segura-Sampedro, Juan José, Santos, Irène, Schache, Andrew, Schnitzbauer, Andreas A, Seyi-Olajide, Justina O, Sharma, Neil, Shaw, Catherine A, Shu, Sebastian, Soreide, Kjetil, Spinelli, Antonino, Stewart, Grant D, Townend, Philip, Tsoulfas, Georgios, Vidya, Raghavan, Vimalachandran, Dale, Warren, Oliver J, Wedderburn, Duane, EuroSurg, NA, European Society of Coloproctology (ESCP), NA, Global Initiative for Children's Surgery, NA, GlobalSurg, NA, GlobalPaedSurg, NA, ItSURG, NA, PTSurg, NA, SpainSurg, NA, Italian Society of Colorectal Surgery, NA, Association of Surgeons in Training, NA, Irish Surgical Research Collaborative (ISRC), NA, Transatlantic Australasian Retroperitoneal Sarcoma Working, NA, Italian Society of Surgical Oncology, NA, Booth, Lesley, Barker, Margaret, Barker, Neil, Cooke, Shirley, Doré, Suzanne, Horwood, Nigel, Runigamugabo, Emmy, Weir, Carrie Tierney, Bahrami-Hessari, Mike, Riaz, Asad, Shah, Jaffer, Safi, Mohammed, Thereska, Dariel, Dajti, Irida, Cheddadi, Riadh, Tidjane, Anisse, Quinteros, Carlos A, khelfaoui, Ahmed, Salem, Khalifa M, Riffi, Omar, Kacimi, Salah Eddine O, Loudjedi, Salim, Damerdji, Tidjani, Pantoja Pachajoa, Diana A, Palacios Huatuco, René M, Alvarez, Fernando A, Doniquian, Alejandro M, Abeldaño Zuñiga, Roberto A, Schlottmann, Francisco, Cobos, Carlos M, Gigena, Cecilia, Forneris, Agustin Albani, Duro, Agustin, García-Mansilla, Agustín M, Busnelli, Virginia Cano, Poggi, Catalina, Mercado, Pedro L, González, Marcos, Castro Lalin, Agustina F, Mayer, Horacio F, Brandariz, Rodrigo, Slullitel, Pablo A, Boudou, Rocio, Lobos, Pablo A, Uffelmann, María C, Petersen, Maria L, Luzzi, Emilia, Padilla Lichtenberger, Fernando L, Crespi Amor, María S, Zarratea, Celeste S, Esteves, Tomas A, Gemelli, Nicolas A, Tirapegui, Sebastián, Liyo, Juan, Scherñuk, Jordán, 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Saba A, Albably, Jamal F, Ghannam, Rana A, Shamsan, Amatallah H, Meead, Abdullah A, Al- Zubaidi, Riham Q, Zulait, Mohammed A, Najeeb, Halah, Alsayadi, Musaed M, Al-Mashreqi, Seham K, Al-Jomai, Najla A, Alsayadi, Ramzi A, Al-Naggar, Moath M, Almarashi, Hassan A, Musaeed, Hasna M, Al-Raimi, Ibrahim M, Ghanem, Hossam N, Al-Zazay, Karim A, AL-Mahdi, Shehab A, Almontaser, Amatalaleem S, Savopoulos, Vanessa A S, Munthali, James, Kabongo, Kizito M C, Mushiwokufa, Willard, Ngulube, Allan, Ntoto, Crispin, Magama, Praise T, Dzinotyiwei, Daniel, Chivanga, Shelton K, Dube, Ngqabutho S, Sanchez, Ernesto C, Moyo, Assel T, Chengahomwe, Antony, Chinyowa, Simbarashe, Siamuchembu, Maphios, Bondera, Tafadzwa, and Mushawarima, Trust
Published: 2022
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25. The disruption of the CCDC6 – PP4 axis induces a BRCAness like phenotype and sensitivity to PARP inhibitors in high-grade serous ovarian carcinoma

Author: Morra, Francesco, Merolla, Francesco, Damia, Giovanna, Ricci, Francesca, Varricchio, Silvia, Ilardi, Gennaro, Arenare, Laura, Califano, Daniela, Napolitano, Virginia, Fruscio, Robert, Melillo, Rosa Marina, Palazzo, Luca, and Celetti, Angela
Published: 2022
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26. Incidence of peritoneal cancer after oophorectomy among BRCA1 and BRCA2 mutation carriers.

Author: Narod, Steven A, Gronwald, Jacek, Karlan, Beth, Moller, Pal, Huzarski, Tomasz, Tung, Nadine, Aeilts, Amber, Eisen, Andrea, Armel, Susan Randall, Singer, Christian F, Foulkes, William D, Neuhausen, Susan L, Olopade, Olufunmilayo, Pal, Tuya, Fruscio, Robert, Metcalfe, Kelly, Raj, Rebecca, Jacobson, Michelle, Sun, Ping, and Lubinski, Jan
Subjects: BRCA genes, OVARIECTOMY, FAMILY history (Medicine), GENETIC mutation, DISEASE risk factors
Abstract: Background To estimate the incidence of primary peritoneal cancer after preventive bilateral oophorectomy in women with a BRCA1 or BRCA2 mutation. Methods A total of 6310 women with a BRCA1 or BRCA2 mutation who underwent a preventive bilateral oophorectomy were followed for a mean of 7.8 years from oophorectomy. The 20-year cumulative incidence of peritoneal cancer post-oophorectomy was estimated using the Kaplan-Meier method. A left-truncated Cox proportional hazards analysis was used to estimate the hazard ratios (HRs) and 95% confidence intervals (CIs) associated with the age at oophorectomy, year of oophorectomy, and family history of ovarian cancer as well as hormonal and reproductive risk factors. Results Fifty-five women developed primary peritoneal cancer (n = 45 in BRCA1 , 8 in BRCA2 , and 2 in women with a mutation in both genes). Their mean age at oophorectomy was 48.9 years. The annual risk of peritoneal cancer was 0.14% for women with a BRCA1 mutation and 0.06% for women with a BRCA2 mutation. The 20-year cumulative risk of peritoneal cancer from the date of oophorectomy was 2.7% for BRCA1 carriers and 0.9% for BRCA2 mutation carriers. There were no peritoneal cancers in BRCA1 carriers who had the operation before age 35 or in BRCA2 carriers who had the operation before age 45. Conclusions For BRCA1 mutation carriers, the annual risk of peritoneal cancer for 20 years post-oophorectomy is 0.14% per year. The risk is lower for BRCA2 carriers (0.06% per year). [ABSTRACT FROM AUTHOR]
Published: 2024
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27. Fertility outcomes in stage I ovarian immature teratomas.

Author: Marino, Giuseppe, Grassi, Tommaso, De Ponti, Elena, Testa, Filippo, Negri, Serena, Giuliani, Daniela, Seca, Marta, Bombelli, Martina, Santagati, Alice, Bertoni, Martina, Jaconi, Marta, Bonazzi, Cristina Maria, Lissoni, Andrea Alberto, Landoni, Fabio, and Fruscio, Robert
Published: 2024
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28. SENECA study: Staging endometrial cancer based on molecular classification.

Author: Chacon, Enrique, Boria, Felix, Lyer, R. Rajagopalan, Fanfani, Francesco, Malzoni, Mario, Bretová, Petra, Aznar, Ana Luzarraga, Fruscio, Robert, Jedryka, Marcin A., Tóth, Richard, Perrone, Anna Myriam, Kakkos, Athanasios, Quevedo, Ignacio Cristóbal, Congedo, Luigi, Zanagnolo, Vanna, Fernandez-Gonzalez, Sergi, Ferro, Beatriz, Narducci, Fabrice, Hovhannisyan, Tatevik, and Aksahin, Elif
Published: 2024
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29. MP61-11 COMPLICATIONS AND ADVERSE EVENTS IN LYMPHADENECTOMY OF THE INGUINAL AREA (CALI)—A WORLDWIDE EXPERT CONSENSUS

Author: Medina, Luis G., primary, Sayegh, Aref S., additional, Celis, Valeria, additional, Rodriguez, Veronica I., additional, Ramacciotti, Lorenzo, additional, Perez, Laura C., additional, La Rivas, Anibal, additional, Eppler, Michael B., additional, Gaona, Jose, additional, Tobias-Machado, Marcos, additional, Spiess, Philippe E., additional, Pettaway, Curtis A., additional, Lima, Antonio C., additional, Lima, Pablo A., additional, Wilson, Timothy G., additional, Villoldo, Gustavo M., additional, Chung, Eric, additional, Samaniego, Also, additional, Ornellas, Antonio A., additional, Pinheiro, Vladimir, additional, Brazao, Eder S., additional, Subira-Rios, David, additional, Koifman, Leandro, additional, de Cassio, Stenio, additional, Pontillo, Humberto M., additional, de Ribamar Rodriguez Calixto, Jose, additional, Campos, Rafael, additional, Smithers, Mark, additional, Garzon, Simone, additional, Haase, Oliver, additional, Sommariva, Antonio, additional, Fruscio, Robert, additional, Martins, Francisco, additional, de Olveira, Pedro S., additional, Levi, Giovanni B., additional, Clementi, Marco, additional, Astigueta, Juan, additional, Metwally, Islam H., additional, Bharathan, Rasiah, additional, Jindal, Tarun, additional, Nakamura, Yasuhiro, additional, Mageed, Hisham A., additional, Jeevarajan, Sakthiushadevi, additional, Rodriguez, Ramon, additional, Garcia-Perdomo, Herney A., additional, Rodriguez, Omaira, additional, Ghodoussipour, Saum, additional, Gill, Inderbir, additional, Cacciamani, Giovanni, additional, and Sotelo, Rene, additional
Published: 2024
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30. Validation of models to diagnose ovarian cancer in patients managed surgically or conservatively : multicentre cohort study

Author: Van Calster, Ben, Valentin, Lil, Froyman, Wouter, Landolfo, Chiara, Ceusters, Jolien, Testa, Antonia C, Wynants, Laure, Sladkevicius, Povilas, Van Holsbeke, Caroline, Domali, Ekaterini, Fruscio, Robert, Epstein, Elisabeth, Franchi, Dorella, Kudla, Marek J, Chiappa, Valentina, Alcazar, Juan L, Leone, Francesco P G, Buonomo, Francesca, Coccia, Maria Elisabetta, Guerriero, Stefano, Deo, Nandita, Jokubkiene, Ligita, Savelli, Luca, Fischerová, Daniela, Czekierdowski, Artur, Kaijser, Jeroen, Coosemans, An, Scambia, Giovanni, Vergote, Ignace, Bourne, Tom, and Timmerman, Dirk
Published: 2020

31. Population Pharmacokinetics of Docetaxel, Paclitaxel, Doxorubicin and Epirubicin in Pregnant Women with Cancer: A Study from the International Network of Cancer, Infertility and Pregnancy (INCIP)

Author: Janssen, Julie M., Van Calsteren, Kristel, Dorlo, Thomas P. C., Halaska, Michael J., Fruscio, Robert, Ottevanger, Petronella, Schröder, Carolien P., Boere, Ingrid, Witteveen, Petronella O., Painter, Rebecca C., Bekkers, Ruud, Drochytek, Vit, Beijnen, Jos H., Huitema, Alwin D. R., and Amant, Frederic C. H.
Published: 2021
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32. Is there any therapeutic role of pelvic and para-aortic lymphadenectomy in apparent early stage epithelial ovarian cancer?

Author: Bizzarri, Nicolò, du Bois, Andreas, Fruscio, Robert, De Felice, Francesca, De Iaco, Pierandrea, Casarin, Jvan, Vizza, Enrico, Chiantera, Vito, Corrado, Giacomo, Cianci, Stefano, Magni, Sonia, Ferrari, Debora, Giuliani, Daniela, Harter, Philipp, Ataseven, Beyhan, Bommert, Mareike, Perrone, Anna Myriam, Scambia, Giovanni, and Fagotti, Anna
Published: 2021
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33. Early-stage clear cell ovarian cancer compared to high-grade histological subtypes: An outcome exploratory analysis in two oncology centers

Author: Ceppi, Lorenzo, Grassi, Tommaso, Galli, Francesca, Buda, Alessandro, Aletti, Giovanni, Lissoni, Andrea Alberto, Adorni, Marco, Garbi, Annalisa, Colombo, Nicoletta, Bonazzi, Cristina, Landoni, Fabio, and Fruscio, Robert
Published: 2021
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34. The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations

Author: Narod, S, Metcalfe, K, Finch, A, Chan, A, Armel, S, Aeilts, A, Eisen, A, Karlan, B, Bordeleau, L, Tung, N, Foulkes, W, Neuhausen, S, Eng, C, Olopade, O, Zakalik, D, Couch, F, Cullinane, C, Pal, T, Sun, P, Kotsopoulos, J, Fruscio, R, 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, Fruscio,Robert, Narod, S, Metcalfe, K, Finch, A, Chan, A, Armel, S, Aeilts, A, Eisen, A, Karlan, B, Bordeleau, L, Tung, N, Foulkes, W, Neuhausen, S, Eng, C, Olopade, O, Zakalik, D, Couch, F, Cullinane, C, Pal, T, Sun, P, Kotsopoulos, J, Fruscio, R, 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, and Fruscio,Robert
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.
Published: 2024

35. Evaluation of two alternative non-alcohol-based media for the suspension of self-collected vaginal swabs for HPV testing in cervical cancer screening

Author: Giubbi, C, Martinelli, M, Di Meo, M, Njoku, R, Perdoni, F, Fruscio, R, Landoni, F, Cocuzza, C, Giubbi, Chiara, Martinelli, Marianna, Di Meo, Maria Letizia, Njoku, Ruth Chinyere, Perdoni, Federica, Fruscio, Robert, Landoni, Fabio, Cocuzza, Clementina Elvezia, Giubbi, C, Martinelli, M, Di Meo, M, Njoku, R, Perdoni, F, Fruscio, R, Landoni, F, Cocuzza, C, Giubbi, Chiara, Martinelli, Marianna, Di Meo, Maria Letizia, Njoku, Ruth Chinyere, Perdoni, Federica, Fruscio, Robert, Landoni, Fabio, and Cocuzza, Clementina Elvezia
Abstract: The introduction of Human Papillomavirus (HPV) testing in cervical cancer screening enhanced the opportunity to introduce self-collection as an innovative approach to improve coverage rates. Validation and standardization of the pre-analytical and analytical procedures are crucial for the quality assurance of HPV tests on self-collected samples. This study evaluated the analytical performance and the stability of self-collected vaginal samples resuspended in 5 mL of two non-alcohol-based media, eNat® and MSwab® compared to a professionally collected cervical sample, resuspended in 20 mL ThinPrep®, for the detection of high-risk HPV (hrHPV). The impact of the suspension volumes on analytical performance was also evaluated (2 and 5 ml). A good analytical concordance in hrHPV detection in cervical and vaginal self-collected swabs suspended in 5 ml of both non-alcohol-based media was demonstrated (eNat®: 91.2 %, k = 0.821; MSwab®: 91.4 %; k = 0.798). A similar analytical performance was found for samples resuspended in 2 mL (eNat®: 92.9 %, k = 0.811; MSwab®: 92.9 %, k = 0.811) compared to cervical samples. Good nucleic acid stability was demonstrated for vaginal samples stored at 20-25 °C and 37 °C for up to 4 weeks. Results of this preliminary study support the introduction of these media for vaginal self-sampling-based prevention programs. Nevertheless, further research is necessary to evaluate clinical accuracy in larger settings.
Published: 2024

36. Characterization of HER2-low breast cancer in young women with germline BRCA1/2 pathogenetic variants: Results of a large international retrospective cohort study

Author: Medisch Oncologische Disciplines, Pathologie, Cancer, Schettini, Francesco, Blondeaux, Eva, Molinelli, Chiara, Bas, Raphaëlle, Kim, Hee Jeong, Di Meglio, Antonio, Bernstein Molho, Rinat, Linn, Sabine C., Pogoda, Katarzyna, Carrasco, Estela, Punie, Kevin, Agostinetto, Elisa, Lopetegui-Lia, Nerea, Phillips, Kelly Anne, Toss, Angela, Rousset-Jablonski, Christine, Acheritogaray, Marion, Ferrari, Alberta, Paluch-Shimon, Shani, Fruscio, Robert, Cui, Wanda, Wong, Stephanie M., Vernieri, Claudio, Dieci, Maria Vittoria, Matikas, Alexios, Rozenblit, Mariya, Villarreal-Garza, Cynthia, De Marchis, Laura, Puglisi, Fabio, Vasconcelos de Matos, Leonor, Mariño, Monica, Teixeira, Luis, Graffeo, Rossella, Rognone, Alessia, Chirco, Alessandra, Antone, Nicoleta, Abdou, Yara, Marhold, Maximilian, Božović-Spasojević, Ivana, Cortés Salgado, Alfonso, Carmisciano, Luca, Bruzzone, Marco, Curigliano, Giuseppe, Prat, Aleix, Lambertini, Matteo, Medisch Oncologische Disciplines, Pathologie, Cancer, Schettini, Francesco, Blondeaux, Eva, Molinelli, Chiara, Bas, Raphaëlle, Kim, Hee Jeong, Di Meglio, Antonio, Bernstein Molho, Rinat, Linn, Sabine C., Pogoda, Katarzyna, Carrasco, Estela, Punie, Kevin, Agostinetto, Elisa, Lopetegui-Lia, Nerea, Phillips, Kelly Anne, Toss, Angela, Rousset-Jablonski, Christine, Acheritogaray, Marion, Ferrari, Alberta, Paluch-Shimon, Shani, Fruscio, Robert, Cui, Wanda, Wong, Stephanie M., Vernieri, Claudio, Dieci, Maria Vittoria, Matikas, Alexios, Rozenblit, Mariya, Villarreal-Garza, Cynthia, De Marchis, Laura, Puglisi, Fabio, Vasconcelos de Matos, Leonor, Mariño, Monica, Teixeira, Luis, Graffeo, Rossella, Rognone, Alessia, Chirco, Alessandra, Antone, Nicoleta, Abdou, Yara, Marhold, Maximilian, Božović-Spasojević, Ivana, Cortés Salgado, Alfonso, Carmisciano, Luca, Bruzzone, Marco, Curigliano, Giuseppe, Prat, Aleix, and Lambertini, Matteo
Published: 2024

37. Assessment of sentinel Lymph node mapping with different volumes of Indocyanine green in early-stage ENdometrial cancer: the ALIEN study

Author: Mauro, J, Raimondo, D, Di Martino, G, Gasparri, M, Restaino, S, Neola, D, Clivio, L, Calidona, C, Fruscio, R, Vizzielli, G, Uccella, S, Papadia, A, Seracchioli, R, Buda, A, Mauro, Jessica, Raimondo, Diego, Di Martino, Giampaolo, Gasparri, Maria Luisa, Restaino, Stefano, Neola, Daniele, Clivio, Luca, Calidona, Carmelo, Fruscio, Robert, Vizzielli, Giuseppe, Uccella, Stefano, Papadia, Andrea, Seracchioli, Renato, Buda, Alessandro, Mauro, J, Raimondo, D, Di Martino, G, Gasparri, M, Restaino, S, Neola, D, Clivio, L, Calidona, C, Fruscio, R, Vizzielli, G, Uccella, S, Papadia, A, Seracchioli, R, Buda, A, Mauro, Jessica, Raimondo, Diego, Di Martino, Giampaolo, Gasparri, Maria Luisa, Restaino, Stefano, Neola, Daniele, Clivio, Luca, Calidona, Carmelo, Fruscio, Robert, Vizzielli, Giuseppe, Uccella, Stefano, Papadia, Andrea, Seracchioli, Renato, and Buda, Alessandro
Abstract: Objective To evaluate the impact of different volumes of indocyanine green (ICG) on the detection rate and bilateral mapping of sentinel lymph nodes in patients with apparent uterine-confined endometrial cancer. Methods All patients who underwent surgical staging with sentinel node mapping in six reference centers were included. Two different protocols of ICG intracervical injection were used: (1) 2 mL group: total volume of 2 mL injected superficially; (2) 4 mL group: total volume of 4 mL, 2 mL deeply and 2 mL superficially. Logistic regression was used to analyze factors that could influence dye migration and detection rates. A sensitivity analysis was carried out to determine how independent variables could affect the sentinel node detection rate. Results Of 442 eligible patients, 352 were analyzed (172 in the 2 mL group and 180 in the 4 mL group). The bilateral detection rates of the 2 mL and 4 mL groups were 84.9% and 86.1%, respectively (p=0.76). The overall detection rate was higher with a volume of 4 mL than with 2 mL (92.4% vs 97.8%, respectively; p=0.024). In the univariate analysis the rate of bilateral mapping fell from 87.5% to 73.5% when the International Federation of Gynecology and Obstetrics (FIGO) 2009 tumor stage was >IB (p=0.018). In the multivariate analysis, for both overall and bilateral detection rates a statistically significant difference emerged for the volume of ICG injected and FIGO 2009 stage >IB. Increasing body mass index was associated with worse overall detection rates on univariate analysis (p=0.0006), and significantly decreased from 97% to 91% when the body mass index exceeded 30 kg/m(2) (p=0.05). Conclusions In patients with early-stage endometrial cancer, a volume of 2 mL ICG does not seem to compromise the bilateral detection of sentinel lymph nodes. In women with obesity and FIGO 2009 stage >IB, a 4 mL injection should be preferred.
Published: 2024

38. Bilateral Oophorectomy and All-Cause Mortality in Women With BRCA1 and BRCA2 Sequence Variations

Author: Kotsopoulos, J, Gronwald, J, Huzarski, T, Møller, P, Pal, T, Mccuaig, J, Singer, C, Karlan, B, Aeilts, A, Eng, C, Eisen, A, Bordeleau, L, Foulkes, W, Tung, N, Couch, F, Fruscio, R, Neuhausen, S, Zakalik, D, Cybulski, C, Metcalfe, K, Olopade, O, Sun, P, Lubinski, J, Narod, S, Kotsopoulos, Joanne, Gronwald, Jacek, Huzarski, Tomasz, Møller, Pål, Pal, Tuya, McCuaig, Jeanna M, Singer, Christian F, Karlan, Beth Y, Aeilts, Amber, Eng, Charis, Eisen, Andrea, Bordeleau, Louise, Foulkes, William D, Tung, Nadine, Couch, Fergus J, Fruscio, Robert, Neuhausen, Susan L, Zakalik, Dana, Cybulski, Cezary, Metcalfe, Kelly, Olopade, Olufunmilayo I, Sun, Ping, Lubinski, Jan, Narod, Steven A, Kotsopoulos, J, Gronwald, J, Huzarski, T, Møller, P, Pal, T, Mccuaig, J, Singer, C, Karlan, B, Aeilts, A, Eng, C, Eisen, A, Bordeleau, L, Foulkes, W, Tung, N, Couch, F, Fruscio, R, Neuhausen, S, Zakalik, D, Cybulski, C, Metcalfe, K, Olopade, O, Sun, P, Lubinski, J, Narod, S, Kotsopoulos, Joanne, Gronwald, Jacek, Huzarski, Tomasz, Møller, Pål, Pal, Tuya, McCuaig, Jeanna M, Singer, Christian F, Karlan, Beth Y, Aeilts, Amber, Eng, Charis, Eisen, Andrea, Bordeleau, Louise, Foulkes, William D, Tung, Nadine, Couch, Fergus J, Fruscio, Robert, Neuhausen, Susan L, Zakalik, Dana, Cybulski, Cezary, Metcalfe, Kelly, Olopade, Olufunmilayo I, Sun, Ping, Lubinski, Jan, and Narod, Steven A
Abstract: IMPORTANCE Preventive bilateral salpingo-oophorectomy is offered to women at high risk of ovarian cancer who carry a pathogenic variant in BRCA1 or BRCA2; however, the association of oophorectomy with all-cause mortality has not been clearly defined. OBJECTIVE To evaluate the association between bilateral oophorectomy and all-cause mortality among women with a BRCA1 or BRCA2 sequence variation. DESIGN, SETTING, AND PARTICIPANTS In this international, longitudinal cohort study ofwomen with BRCA sequence variations, information on bilateral oophorectomy was obtained via biennial questionnaire. Participants were women with a BRCA1 or BRCA2 sequence variation, no prior history of cancer, and at least 1 follow-up questionnaire completed. Women were followed up from age 35 to 75 years for incident cancers and deaths. Cox proportional hazards regression was used to estimate the hazard ratios (HRs) and 95% CIs for all-cause mortality associated with a bilateral oophorectomy (time dependent). Data analysis was performed from January 1 to June 1, 2023. EXPOSURES Self-reported bilateral oophorectomy (with or without salpingectomy). MAIN OUTCOMES AND MEASURES All-cause mortality, breast cancer-specific mortality, and ovarian cancer-specific mortality. RESULTS There were 4332 women (mean age, 42.6 years) enrolled in the cohort, of whom 2932 (67.8%) chose to undergo a preventive oophorectomy at a mean (range) age of 45.4 (23.0-77.0) years. After a mean follow-up of 9.0 years, 851 women had developed cancer and 228 had died; 57 died of ovarian or fallopian tube cancer, 58 died of breast cancer, 16 died of peritoneal cancer, and 97 died of other causes. The age-adjusted HR for all-cause mortality associated with oophorectomy was 0.32 (95% CI, 0.24-0.42; P < .001). The age-adjusted HR was 0.28 (95% CI, 0.20-0.38; P < .001) and 0.43 (95% CI, 0.22-0.90; P = .03) for women with BRCA1 and BRCA2 sequence variations, respectively. For women with BRCA1 sequence variations, the estima
Published: 2024

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

Author: Lubinski, J, Kotsopoulos, J, Moller, P, Pal, T, Eisen, A, Peck, L, Karlan, B, Aeilts, A, Eng, C, Bordeleau, L, Foulkes, W, Tung, N, Couch, F, Fruscio, R, Ramon Y Cajal, T, Singer, C, Neuhausen, S, Zakalik, D, Cybulski, C, Gronwald, J, Huzarski, T, Stempa, K, Dungan, J, Cullinane, C, Olopade, O, Metcalfe, K, Sun, P, Narod, S, 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, Lubinski, J, Kotsopoulos, J, Moller, P, Pal, T, Eisen, A, Peck, L, Karlan, B, Aeilts, A, Eng, C, Bordeleau, L, Foulkes, W, Tung, N, Couch, F, Fruscio, R, Ramon Y Cajal, T, Singer, C, Neuhausen, S, Zakalik, D, Cybulski, C, Gronwald, J, Huzarski, T, Stempa, K, Dungan, J, Cullinane, C, Olopade, O, Metcalfe, K, Sun, P, Narod, S, 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, and Narod, Steven A
Abstract: IMPORTANCE Magnetic 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. OBJECTIVE To 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 PARTICIPANTS Women 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. EXPOSURES Entrance into an MRI surveillance program. MAIN OUTCOMES AND MEASURES Cox proportional hazards modelingwas 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. RESULTS A 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
Published: 2024

40. Outcome of patients with stage I immature teratoma after surveillance or adjuvant chemotherapy

Author: Marino, G, Grassi, T, De Ponti, E, Negri, S, Testa, F, Giuliani, D, Delle Marchette, M, Dell'Oro, C, Fumagalli, D, Donatiello, G, Besana, G, Marchetta, L, Bonazzi, C, Lissoni, A, Landoni, F, Fruscio, R, Marino, Giuseppe, Grassi, Tommaso, De Ponti, Elena, Negri, Serena, Testa, Filippo, Giuliani, Daniela, Delle Marchette, Martina, Dell'Oro, Cristina, Fumagalli, Diletta, Donatiello, Gianluca, Besana, Giulia, Marchetta, Liliana, Bonazzi, Cristina Maria, Lissoni, Andrea Alberto, Landoni, Fabio, Fruscio, Robert, Marino, G, Grassi, T, De Ponti, E, Negri, S, Testa, F, Giuliani, D, Delle Marchette, M, Dell'Oro, C, Fumagalli, D, Donatiello, G, Besana, G, Marchetta, L, Bonazzi, C, Lissoni, A, Landoni, F, Fruscio, R, Marino, Giuseppe, Grassi, Tommaso, De Ponti, Elena, Negri, Serena, Testa, Filippo, Giuliani, Daniela, Delle Marchette, Martina, Dell'Oro, Cristina, Fumagalli, Diletta, Donatiello, Gianluca, Besana, Giulia, Marchetta, Liliana, Bonazzi, Cristina Maria, Lissoni, Andrea Alberto, Landoni, Fabio, and Fruscio, Robert
Abstract: Objective Immature teratomas are rare malignant ovarian germ cell tumours, typically diagnosed in young women, where fertility-sparing surgery is the treatment of choice. The role of adjuvant chemotherapy in stage I disease remains controversial. We evaluated the impact of surveillance versus chemotherapy on the recurrence rate in stage I immature teratomas.Methods We collected a single centre retrospective series of patients with stage I immature teratomas treated with fertility-sparing surgery at San Gerardo Hospital, Monza, Italy, between 1980 and 2019. Potential risk factors for recurrence were investigated by multivariate logistic regression.Results Of the 74 patients included, 12% (9/74) received chemotherapy, while 88% (65/74) underwent surveillance. Median follow-up was 188 months. No difference in recurrence was found in stage IA/IB and IC immature teratomas [10% (6/60) vs. 28.6% (4/14) (P=0.087)], grade 1, grade 2, and grade 3 [7.1% (2/28) vs. 14.3% (4/28) vs. 22.2% (4/18) (p=0.39)], and surveillance versus chemotherapy groups [13.9% (9/65) vs. 11.1% (1/9)) (p = 1.00)]. In univariate analysis, the postoperative approach had no impact on recurrence. The 5-year disease-free survival was 87% and 90% in the surveillance and chemotherapy groups, respectively; the overall survival was 100% in both cohorts.Conclusions Our results support the feasibility of surveillance in stage I immature teratomas. Adjuvant chemotherapy may be reserved for relapses. However, the potential benefit of chemotherapy should be discussed, especially for high-risk tumours. Prospective series are warranted to confirm our findings.What is already known on this topic To date, no consensus has been reached regarding the role of adjuvant chemotherapy in stage I immature teratomas of the ovary. Some studies suggest that only surveillance is an acceptable choice. However, guidelines are not conclusive on this topic.What this study adds No difference in terms of recurrence was observed between
Published: 2024

41. CARE-radiology statement explanation and elaboration: reporting guideline for radiological case reports

Author: Wang, M, Luo, X, Xiao, X, Zhang, L, Wang, Q, Wang, S, Wang, X, Xue, H, Chen, Y, Lei, J, Štupnik, T, Scarci, M, Fiorelli, A, Laisaar, T, Fruscio, R, Elkhayat, H, Novoa, N, Davoli, F, Waseda, R, Estill, J, Norris, S, Riley, D, Tian, J, Wang, Mengshu, Luo, Xufei, Xiao, Xiaojuan, Zhang, Linlin, Wang, Qi, Wang, Shiyu, Wang, Ximing, Xue, Huadan, Zhang, Longjiang, Chen, Yaolong, Lei, Junqiang, Štupnik, Tomaž, Scarci, Marco, Fiorelli, Alfonso, Laisaar, Tanel, Fruscio, Robert, Elkhayat, Hussein, Novoa, Nuria M, Davoli, Fabio, Waseda, Ryuichi, Estill, Janne, Norris, Susan L, Riley, David S, Tian, Jinhui, Wang, M, Luo, X, Xiao, X, Zhang, L, Wang, Q, Wang, S, Wang, X, Xue, H, Chen, Y, Lei, J, Štupnik, T, Scarci, M, Fiorelli, A, Laisaar, T, Fruscio, R, Elkhayat, H, Novoa, N, Davoli, F, Waseda, R, Estill, J, Norris, S, Riley, D, Tian, J, Wang, Mengshu, Luo, Xufei, Xiao, Xiaojuan, Zhang, Linlin, Wang, Qi, Wang, Shiyu, Wang, Ximing, Xue, Huadan, Zhang, Longjiang, Chen, Yaolong, Lei, Junqiang, Štupnik, Tomaž, Scarci, Marco, Fiorelli, Alfonso, Laisaar, Tanel, Fruscio, Robert, Elkhayat, Hussein, Novoa, Nuria M, Davoli, Fabio, Waseda, Ryuichi, Estill, Janne, Norris, Susan L, Riley, David S, and Tian, Jinhui
Abstract: Despite the increasing number of radiological case reports, the majority lack a standardised methodology of writing and reporting. We therefore develop a reporting guideline for radiological case reports based on the CAse REport (CARE) statement. We established a multidisciplinary group of experts, comprising 40 radiologists, methodologists, journal editors and researchers, to develop a reporting guideline for radiological case reports according to the methodology recommended by the Enhancing the QUAlity and Transparency Of health Research network. The Delphi panel was requested to evaluate the significance of a list of elements for potential inclusion in a guideline for reporting mediation analyses. By reviewing the reporting guidelines and through discussion, we initially drafted 46 potential items. Following a Delphi survey and discussion, the final CARE-radiology checklist is comprised of 38 items in 16 domains. CARE-radiology is a comprehensive reporting guideline for radiological case reports developed using a rigorous methodology. We hope that compliance with CARE-radiology will help in the future to improve the completeness and quality of case reports in radiology.
Published: 2024

42. Primary neuroendocrine neoplasms of the vulva: A review of the MITO rare cancer group

Author: Barcellini, A, Golia D'Augè, T, Mandato, V, Cuccu, I, Musella, A, Fruscio, R, Vitale, M, Martinello, R, Mangili, G, Pignata, S, Palaia, I, Barcellini, Amelia, Golia D'Augè, Tullio, Mandato, Vincenzo Dario, Cuccu, Ilaria, Musella, Angela, Fruscio, Robert, Vitale, Maria Giuseppa, Martinello, Ruby, Mangili, Giorgia, Pignata, Sandro, Palaia, Innocenza, Barcellini, A, Golia D'Augè, T, Mandato, V, Cuccu, I, Musella, A, Fruscio, R, Vitale, M, Martinello, R, Mangili, G, Pignata, S, Palaia, I, Barcellini, Amelia, Golia D'Augè, Tullio, Mandato, Vincenzo Dario, Cuccu, Ilaria, Musella, Angela, Fruscio, Robert, Vitale, Maria Giuseppa, Martinello, Ruby, Mangili, Giorgia, Pignata, Sandro, and Palaia, Innocenza
Abstract: Gynecological neuroendocrine neoplasms are rare entities and can be divided into two groups: carcinoids and neuroendocrine carcinomas. Due to their rarity their management is not standardized. The aim of this work is to summarize and discuss the current literature evidence on this pathology. A scoping literature review was performed in multiple databases. Thirty-one studies were included: 30 case reports and one case series. Patients’ age ranged between 28 and 92 years. Surgery was the most used treatment and the surgical approach included local excision (N = 16/31; 51.6%) with (N = 5/16; 31.25%) or without (N = 11/16; 68.75%) inguinal lymphadenectomy. Adjuvant radiotherapy was delivered in 12 (38.7%) cases; instead, platinum-based therapies were frequently used when chemotherapy was chosen for adjuvant treatment. The overall survival ranged between 20 days to 4 years. However, further research is needed; currently, multimodal approach including surgery, chemotherapy and radiotherapy appeared safe and feasible for the treatment of these rare and aggressive diseases.
Published: 2024

43. Association between physical activity and menstrual cycle disorders in young athletes

Author: Passoni, P, Inzoli, A, De Ponti, E, Polizzi, S, Ceccherelli, A, Fantauzzi, M, Procaccianti, C, Cattoni, A, Villa, S, Riva, A, Righetti, S, Landoni, F, Fruscio, R, Passoni, Paolo, Inzoli, Alessandra, De Ponti, Elena, Polizzi, Serena, Ceccherelli, Anna, Fantauzzi, Martina, Procaccianti, Chiara, Cattoni, Alessandro, Villa, Silvia, Riva, Anna, Righetti, Stefano, Landoni, Fabio, Fruscio, Robert, Passoni, P, Inzoli, A, De Ponti, E, Polizzi, S, Ceccherelli, A, Fantauzzi, M, Procaccianti, C, Cattoni, A, Villa, S, Riva, A, Righetti, S, Landoni, F, Fruscio, R, Passoni, Paolo, Inzoli, Alessandra, De Ponti, Elena, Polizzi, Serena, Ceccherelli, Anna, Fantauzzi, Martina, Procaccianti, Chiara, Cattoni, Alessandro, Villa, Silvia, Riva, Anna, Righetti, Stefano, Landoni, Fabio, and Fruscio, Robert
Abstract: Our study aims at evaluating clinical predictors of menstrual cycle disorders in female athletes who compete in running disciplines. This is a prospective observational study. Women were recruited between January and May 2022. 53 patients were enrolled and completed a questionnaire about menstrual cycle, physical activity and food habits characteristics. 39,6% of women in our population had menstrual irregularities and reported a significantly higher number of kilometres run per week (67 vs 35, p:0.02). The number of kilometres run per week was associated with menstrual irregularities (for 10 km, OR 1,35; IC95% 1,05-1,73; p: 0,02) after adjusting for BMI, age, level of sport and caloric intake. The variable of “km run per week” appeared as a diagnostic indicator of irregular menstrual cycle with statistical significance (AUC ROC curve 0,71, IC95% 0,54-0,86, p-value = 0,01) and the cut off-of 65 km run per week is a good indicator of the presence of irregular menstrual cycle (sensitivity (SE) and specificity (SP) of 55% and 81,48%). Menstrual cycle disorders are very frequent in female athletes and the variable of km run per week may have a role in screening endurance athletes at high risk for them.
Published: 2024

44. Use of staging for sex cord stromal tumours

Author: Negri, Serena, Grassi, Tommaso, and Fruscio, Robert
Published: 2022
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45. Survival from breast cancer in women with a BRCA2 mutation by treatment

Author: Evans, D. Gareth, Phillips, Kelly-Anne, Milne, Roger L., Fruscio, Robert, Cybulski, Cezary, Gronwald, Jacek, Lubinski, Jan, Huzarski, Tomasz, Hyder, Zerin, Forde, Claire, Metcalfe, Kelly, Senter, Leigha, Weitzel, Jeffrey, Tung, Nadine, Zakalik, Dana, Ekholm, Maria, Sun, Ping, and Narod, Steven A.
Published: 2021
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46. Characterization of HER2‐low breast cancer in young women with germline BRCA1/2 pathogenetic variants: Results of a large international retrospective cohort study.

Author: Schettini, Francesco, Blondeaux, Eva, Molinelli, Chiara, Bas, Raphaëlle, Kim, Hee Jeong, Di Meglio, Antonio, Bernstein Molho, Rinat, Linn, Sabine C., Pogoda, Katarzyna, Carrasco, Estela, Punie, Kevin, Agostinetto, Elisa, Lopetegui‐Lia, Nerea, Phillips, Kelly‐Anne, Toss, Angela, Rousset‐Jablonski, Christine, Acheritogaray, Marion, Ferrari, Alberta, Paluch‐Shimon, Shani, and Fruscio, Robert
Subjects: HORMONE receptor positive breast cancer, BREAST cancer, EPIDERMAL growth factor receptors, GERM cells, BRCA genes, OVERALL survival
Abstract: Background: Breast cancer (BC) in women aged ≤40 years carrying germline pathogenetic variants (PVs) in BRCA1/2 genes is infrequent but often associated with aggressive features. Human epidermal growth factor receptor 2 (HER2)‐low‐expressing BC has recently emerged as a novel therapeutic target but has not been characterized in this rare patient subset. Methods: Women aged ≤40 years with newly diagnosed early‐stage HER2‐negative BC (HER2‐0 and HER2‐low) and germline BRCA1/2 PVs from 78 health care centers worldwide were retrospectively included. Chi‐square test and Student t‐test were used to describe variable distribution between HER2‐0 and HER2‐low. Associations with HER2‐low status were assessed with logistic regression. Kaplan–Meier method and Cox regression analysis were used to assess disease‐free survival (DFS) and overall survival. Statistical significance was considered for p ≤.05. Results: Of 3547 included patients, 32.3% had HER2‐low BC, representing 46.3% of hormone receptor–positive and 21.3% of triple‐negative (TN) tumors. HER2‐low vs. HER2‐0 BC were more often of grade 1/2 (p <.001), hormone receptor–positive (p <.001), and node‐positive (p =.003). BRCA2 PVs were more often associated with HER2‐low than BRCA1 PVs (p <.001). HER2‐low versus HER2‐0 showed better DFS (hazard ratio [HR], 0.86; 95% CI, 0.76–0.97) in the overall population and more favorable DFS (HR, 0.78; 95% CI, 0.64–0.95) and overall survival (HR, 0.65; 95% CI, 0.46–0.93) in the TN subgroup. Luminal A–like tumors in HER2‐low (p =.014) and TN and luminal A‐like in HER2‐0 (p =.019) showed the worst DFS. Conclusions: In young patients with HER2‐negative BC and germline BRCA1/2 PVs, HER2‐low disease was less frequent than expected and more frequently linked to BRCA2 PVs and associated with luminal‐like disease. HER2‐low status was associated with a modestly improved prognosis. Approximately 32% of human epidermal growth factor receptor 2 (HER2)‐negative breast cancer in an international multicenter cohort of 3547 women ≤40 years old with germline BRCA1/2 pathogenic variants was HER2‐low, and more frequently associated with hormone receptor–positive disease and BRCA2 variants than triple‐negative and BRCA1. HER2‐low status was associated with slightly better outcomes than HER2‐0, especially in triple‐negative tumors, without prognostic differences according to BRCA1 vs. BRCA2 variants, though within HER2‐low disease, luminal A–like tumors displayed worse disease‐free survival than luminal B–like and triple negative tumors. [ABSTRACT FROM AUTHOR]
Published: 2024
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47. BRCA1 foci test as a predictive biomarker of olaparib response in ovarian cancer patient-derived xenograft models.

Author: Guffanti, Federica, Mengoli, Ilaria, Alvisi, Maria Francesca, Dellavedova, Giulia, Giavazzi, Raffaella, Fruscio, Robert, Rulli, Eliana, and Damia, Giovanna
Subjects: BRCA genes, OLAPARIB, OVARIAN cancer, HOMOLOGOUS recombination, BIOMARKERS, PEMETREXED
Abstract: Standard therapy for high-grade ovarian carcinoma includes surgery followed by platinum-based chemotherapy and poly-ADP ribose polymerase inhibitors (PARPis). Deficiency in homologous recombination repair (HRD) characterizes almost half of high-grade ovarian carcinomas and is due to genetic and epigenetic alterations in genes involved in HR repair, mainly BRCA1/BRCA2, and predicts response to PARPi. The academic and commercial tests set up to define the HRD status of the tumor rely on DNA sequencing analysis, while functional tests such as the RAD51 foci assay are currently under study, but have not been validated yet and are available for patients. In awell-characterized ovarian carcinoma patient-derived xenograft platform whose response to cisplatin and olaparib, a PARPi, is known, we assessed the association between the BRCA1 foci score, determined in formalin-fixed paraffin-embedded tumor slices with an immunofluorescence technique, and other HRD biomarkers and explored the potential of the BRCA1 foci test to predict tumors' response to cisplatin and olaparib. The BRCA1 foci score was associated with both tumors' HRD status and RAD51 foci score. A low BRCA1 foci score predicted response to olaparib and cisplatin, while a high score was associated with resistance to therapy. As we recently published that a low RAD51 foci score predicted olaparib sensitivity in our xenobank, we combined the two scores and showed that the predictive value was better than with the single tests. This study reports for the first time the capacity of the BRCA1 foci test to identify HRD ovarian carcinomas and possibly predict response to olaparib. [ABSTRACT FROM AUTHOR]
Published: 2024
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48. Association between Physical Activity and Menstrual Cycle Disorders in Young Athletes.

Author: Passoni, Paolo, Inzoli, Alessandra, De Ponti, Elena, Polizzi, Serena, Ceccherelli, Anna, Fantauzzi, Martina, Procaccianti, Chiara, Cattoni, Alessandro, Villa, Silvia, Riva, Anna, Righetti, Stefano, Landoni, Fabio, and Fruscio, Robert
Subjects: RISK assessment, REPRODUCTIVE health, RUNNING, SCIENTIFIC observation, QUESTIONNAIRES, DESCRIPTIVE statistics, ATHLETES, LONGITUDINAL method, ODDS ratio, FOOD habits, MENSTRUATION disorders, CONFIDENCE intervals, PHYSICAL activity, SENSITIVITY & specificity (Statistics), DISEASE risk factors
Abstract: Our study aims to evaluate clinical predictors of menstrual cycle disorders in female athletes who compete in running disciplines. This is a prospective observational study. Women were recruited between January and May 2022. Fifty-three patients were enrolled and completed a questionnaire about menstrual cycle, physical activity, and food habit characteristics. Of the women in our population, 39.6% had menstrual irregularities and reported a significantly higher number of kilometers run per week (67 vs. 35, p:0.02). The number of kilometers run per week was associated with menstrual irregularities (for 10 km, OR 1.35; IC95% 1.05–1.73; p: 0.02) after adjusting for BMI, age, level of sport and caloric intake. The variable of "km run per week" appeared as a diagnostic indicator of irregular menstrual cycle with statistical significance (AUC ROC curve 0.71, IC95% 0.54–0.86, p-value=0.01) and the cut-off of 65 km run per week is a good indicator of the presence of irregular menstrual cycle (sensitivity (SE) and specificity (SP) of 55% and 81.48%). Menstrual cycle disorders are very frequent in female athletes, and the variable of km run per week may play a role in screening endurance athletes at high risk for these disorders. [ABSTRACT FROM AUTHOR]
Published: 2024
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49. Assessment of sentinel Lymph node mapping with different volumes of Indocyanine green in early-stage ENdometrial cancer: the ALIEN study.

Author: Mauro, Jessica, Raimondo, Diego, Di Martino, Giampaolo, Luisa Gasparri, Maria, Restaino, Stefano, Neola, Daniele, Clivio, Luca, Calidona, Carmelo, Fruscio, Robert, Vizzielli, Giuseppe, Uccella, Stefano, Papadia, Andrea, Seracchioli, Renato, and Buda, Alessandro
Published: 2024
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50. Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment

Author: Evans, D. Gareth, Phillips, Kelly-Anne, Milne, Roger L., Fruscio, Robert, Cybulski, Cezary, Gronwald, Jacek, Lubinski, Jan, Huzarski, Tomasz, Hyder, Zerin, Forde, Claire, Metcalfe, Kelly, Senter, Leigha, Weitzel, Jeffrey, Tung, Nadine, Zakalik, Dana, Ekholm, Maria, Sun, Ping, and Narod, Steven A.
Published: 2023
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