Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals

Bakhuizen, Jette J; Velthuizen, Mary E; Stehouwer, S.; Bleiker, Eveline M. A.; Ausems, Margreet G. E. M.

doi:10.1007/s10689-018-0103-5

Cited by 11 publications

(15 citation statements)

References 20 publications

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“…Although we found BRCA1 prevalence of 8.8% and BRCA2 prevalence of 3.4% in the entire cohort, none of the TP53 germline mutation carriers were positive for BRCA1 or BRCA2 mutations. This is consistent with previous reports where TP53 mutations are seen in early-onset BC patients that are negative for BRCA1/2 pathogenic variants [ 30 , 31 , 36 ].…”

Section: Discussionsupporting

confidence: 93%

Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients

Siraj

Masoodi

et al. 2021

Hered Cancer Clin Pract

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Background The data on prevalence and clinical relevance of TP53 germline mutations in early onset Middle-Eastern breast cancer (BC) is limited. Methods We determined TP53 germline mutations in a cohort of 464 early onset BC patients from Saudi Arabia using capture sequencing based next generation sequencing. Results Germline TP53 pathogenic mutations were found in 1.5% (7/464) of early onset Saudi BC patients. A total of six pathogenic missense mutations, one stop gain mutation and two variants of uncertain significance (VUS) were detected in our cohort. No TP53 pathogenic mutations were detected among 463 healthy controls. TP53 mutations carriers were significantly more likely to have bilateral breast cancer (p = 0.0008). At median follow-up of 41 months, TP53 mutations were an unfavorable factor for overall survival in univariate analysis. All the patients carrying TP53 mutations were negative for BRCA1 and BRCA2 mutations. Majority of patients (85.7%; 6/7) carrying TP53 mutation had no family history suggestive of Li-Fraumeni Syndrome (LFS) or personal history of multiple LFS related tumors. Only one patient had a positive family history suggestive of LFS. Conclusions TP53 germline mutation screening detects a clinically meaningful risk of early onset BC from this ethnicity and should be considered in all early onset BC regardless of the family history of cancer, especially in young patients that are negative for BRCA mutations.

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Section: Discussionsupporting

confidence: 93%

Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients

Siraj

Masoodi

et al. 2021

Hered Cancer Clin Pract

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“…The fact that 2 participants stopped surveillance after mastectomy indicates that there is still a need for more information and support to handle the potential LFS cancer spectrum, and this needs to be addressed in counseling. Bakhuizen et al 33 discussed how especially those women who do not have a typical LFS family history but experience an early onset of breast cancer need appropriate counselling strategies, and this needs to be examined in larger studies. Interestingly, the observed moderate individual distress and cancer worry levels were lower than expected in light of the literature and the high lifetime cancer risk (up to 100%) for those with LFS.…”

Section: Figurementioning

confidence: 99%

Cancer surveillance and distress among adult pathogenic TP53 germline variant carriers in Germany: A multicenter feasibility and acceptance survey

Rippinger

Fischer

Haun

et al. 2020

Cancer

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BACKGROUND: Li-Fraumeni syndrome (LFS) is a high-risk cancer predisposition syndrome caused by pathogenic germline variants of TP53. Cancer surveillance has noted a significant survival advantage in individuals with LFS; however, little is known about the feasibility, acceptance, and psychosocial effects of such a program. METHODS: Pathogenic TP53 germline variant carriers completed a 7-part questionnaire evaluating sociodemographics, cancer history, surveillance participation, reasons for nonadherence, worries, and distress adapted from the Cancer Worry Scale. Counselees' common concerns and suggestions were assessed in MAXQDA Analytics Pro 12. RESULTS: Forty-nine participants (46 females and 3 males), aged 40.0 ± 12.6 years, formed the study population; 43 (88%) had a personal cancer history (including multiple cancers in 10 [20%]). Forty-three individuals participated (88%) in surveillance during the study or formerly. Willingness to undergo surveillance was influenced by satisfaction with genetic testing and counseling (P = .019 [Fisher-Yates test]) but not by sociodemographics, cancer history, or distress level. Almost one-third of the participants reported logistical difficulties in implementing surveillance because of the high frequency of medical visits, scheduling difficulties, and the travel distance to their surveillance providers. Self-reported distress and perceived emotional burden for family members and partners were moderate (median for self-reported distress, 3.3; median for perceived emotional burden, 3.0). For both, the interquartile range was moderate to very high (2.7-3.7 and 3.0-3.7, respectively). CONCLUSIONS: Individuals with LFS require efficient counseling as well as an accessible, well-organized, interdisciplinary, standardized surveillance program to increase adherence and psychological coping. Cancer 2020;126:4032-4041.

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“…Understanding these pathological differences along with the genetic history of the patient are required to offer individualised treatment regimens. 85 Germline mutations in BRCA1 and BRCA2 are responsible for 90% of hereditary breast cancer cases in the Western world and their mutation therefore represents the most important marker for the early detection of breast cancer. [86][87][88] The landscape of breast cancer in the Arab world is somewhat different.…”

Section: Brain Tumoursmentioning

confidence: 99%

Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population

et al. 2020

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The study of hereditary cancer, which accounts for~10% of cancer cases worldwide is an important subfield of oncology. Our understanding of hereditary cancers has greatly advanced with recent advances in sequencing technology, but as with any genetic trait, gene frequencies of cancer-associated mutations vary across populations, and most studies that have located hereditary cancer genes have been conducted on European or Asian populations. There is an urgent need to trace hereditary cancer genes across the Arab world. Hereditary disease is particularly prevalent among members of consanguineous populations, and consanguineous marriages are particularly common in the Arab world. There are also cultural and educational idiosyncrasies that differentiate Arab populations from other more thoroughly studied groups with respect to cancer awareness and treatment. Therefore, a review of the literature on hereditary cancers in this understudied population was undertaken. We report that BRCA mutations are not as prevalent among Arab breast cancer patients as they are among other ethnic groups, and therefore, other genes may play a more important role. A wide variety of germline inherited mutations that are associated with cancer are discussed, with particular attention to breast, ovarian, colorectal, prostate, and brain cancers. Finally, we describe the state of the profession of familial cancer genetic counselling in the Arab world, and the clinics and societies dedicated to its advances. We describe the complexities of genetic counselling that are specific to the Arab world. Understanding hereditary cancer is heavily dependent on understanding population-specific variations in cancer-associated gene frequencies.

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Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals

Cited by 11 publications

References 20 publications

Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients

Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients

Cancer surveillance and distress among adult pathogenic TP53 germline variant carriers in Germany: A multicenter feasibility and acceptance survey

Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population

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